SLC45A2

Summary

Gene Symbol: SLC45A2
Description: solute carrier family 45 member 2
Alias: 1A1, AIM1, MATP, OCA4, SHEP5, membrane-associated transporter protein, melanoma antigen AIM1, protein AIM-1, underwhite
Species: human

Top Publications

  1. ncbi Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
    S Fukamachi
    Department of Integrated Biosciences, Graduate School of Frontier Sciences, University of Tokyo, Kashiwa no ha 5 1 5, Kashiwa shi, Chiba ken 277 0882, Japan
    Nat Genet 28:381-5. 2001
  2. ncbi Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
    Kazuhiro Nakayama
    Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan
    J Hum Genet 47:92-4. 2002
  3. pmc Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Hum Genet 74:466-71. 2004
  4. ncbi Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis
    I Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Ann Hum Genet 70:802-11. 2006
  5. pmc Molecular and clinical characterization of albinism in a large cohort of Italian patients
    Annagiusi Gargiulo
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Invest Ophthalmol Vis Sci 52:1281-9. 2011
  6. ncbi MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids
    Isao Yuasa
    Division of Legal Medicine Faculty of Medicine, Tottori University, 683 8503 Yonago, Japan
    Int J Legal Med 118:364-6. 2004
  7. ncbi A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
    T Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Show ku, Nagoya 466 8550, Japan
    Br J Dermatol 152:174-5. 2005
  8. ncbi Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
    Justin Graf
    Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Brisbane, Queensland, Australia
    Hum Mutat 25:278-84. 2005
  9. ncbi Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
    Justin Graf
    Institute of Health and Biomedical Innovation, Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Kelvin Grove, Queensland, Australia
    Hum Mutat 28:710-7. 2007
  10. pmc A genomewide association study of skin pigmentation in a South Asian population
    Renee P Stokowski
    Perlegen Sciences, Mountain View, CA 94043, USA
    Am J Hum Genet 81:1119-32. 2007

Research Grants

  1. Interplay between metabolism and FXR activation in scoparone signaling
    Bingfang Yan; Fiscal Year: 2013
  2. Susceptibility to methylmercury toxicity: A role for cytochrome p450 enzymes
    Matthew D Rand; Fiscal Year: 2013
  3. JOHANNES NICOLAAS VAN DEN ANKER; Fiscal Year: 2014
  4. CYP1A1 GENOTYPE & INDUCIBIL PHENOTYPE-HUM LUNG CA RISK
    Jennifer Hu; Fiscal Year: 1992
  5. Aaron M Rowland; Fiscal Year: 2014
  6. Robert H Tukey; Fiscal Year: 2015
  7. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2006
  8. Regulated Properties of the Human UGT1A1 Gene.
    Robert Tukey; Fiscal Year: 2006
  9. Glutathione S-Transferase Functions in Chemoprevention
    Alan Townsend; Fiscal Year: 2009
  10. Genome-Wide Analysis of RXR-alpha Binding In Mouse Liver Chromatin with ChIP-SEQ
    SAUL JOSEPH KARPEN; Fiscal Year: 2010

Detail Information

Publications245 found, 100 shown here

  1. ncbi Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
    S Fukamachi
    Department of Integrated Biosciences, Graduate School of Frontier Sciences, University of Tokyo, Kashiwa no ha 5 1 5, Kashiwa shi, Chiba ken 277 0882, Japan
    Nat Genet 28:381-5. 2001
    ..Here, we report the first successful positional cloning of a medaka gene (AIM1): one that encodes a transporter that mediates melanin synthesis...
  2. ncbi Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
    Kazuhiro Nakayama
    Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan
    J Hum Genet 47:92-4. 2002
    ..The gene for the AIM-1 protein (AIM1) was recently found to be responsible for the body color of medaka fish...
  3. pmc Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
    Katsuhiko Inagaki
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Hum Genet 74:466-71. 2004
    ..Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4)...
  4. ncbi Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis
    I Yuasa
    Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683 8503, Japan
    Ann Hum Genet 70:802-11. 2006
    ..The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations...
  5. pmc Molecular and clinical characterization of albinism in a large cohort of Italian patients
    Annagiusi Gargiulo
    Telethon Institute of Genetics and Medicine TIGEM, Naples, Italy
    Invest Ophthalmol Vis Sci 52:1281-9. 2011
    ....
  6. ncbi MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids
    Isao Yuasa
    Division of Legal Medicine Faculty of Medicine, Tottori University, 683 8503 Yonago, Japan
    Int J Legal Med 118:364-6. 2004
    ..In this study, five polymorphisms of the membrane-associated transporter protein (MATP) gene were investigated in German and Japanese populations...
  7. ncbi A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
    T Suzuki
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Show ku, Nagoya 466 8550, Japan
    Br J Dermatol 152:174-5. 2005
  8. ncbi Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
    Justin Graf
    Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Brisbane, Queensland, Australia
    Hum Mutat 25:278-84. 2005
    ..A recently identified form of OCA results from mutations in the Membrane Associated Transporter Protein (MATP) gene. The role of MATP in human pigmentation is not clear...
  9. ncbi Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
    Justin Graf
    Institute of Health and Biomedical Innovation, Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Kelvin Grove, Queensland, Australia
    Hum Mutat 28:710-7. 2007
    Human pigmentation is a complex physical trait in which the membrane-associated transporter protein (MATP) plays an important role as it is involved in intracellular processing and trafficking of melanosomal proteins...
  10. pmc A genomewide association study of skin pigmentation in a South Asian population
    Renee P Stokowski
    Perlegen Sciences, Mountain View, CA 94043, USA
    Am J Hum Genet 81:1119-32. 2007
    ..Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of ..
  11. pmc A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    Jiali Han
    Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 4:e1000074. 2008
    ..52). One variant in the MATP gene was associated with hair color...
  12. doi SLC45A2: a novel malignant melanoma-associated gene
    L P Fernandez
    Human Genetics Group, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Hum Mutat 29:1161-7. 2008
    ..We found that the variant allele of c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 (membrane associated transporter previously known as MATP) was associated with protection from MM (OR, 0...
  13. doi Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population
    Mickael Guedj
    Laboratoire Statistique et Genome, UMR CNRS 8071, INRA 1152, Universite d Evry Val d Essonne, Evry, France
    Hum Mutat 29:1154-60. 2008
    In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition...
  14. doi Association of the SLC45A2 gene with physiological human hair colour variation
    Wojciech Branicki
    Section of Forensic Genetics, Institute of Forensic Research, Westerplatte 9, 31 033 Krakow, Poland
    J Hum Genet 53:966-71. 2008
    ..Several genes have already been associated with natural differences in human pigmentation. The SLC45A2 gene encoding a transporter protein involved in melanin synthesis is considered to be one of the most important ..
  15. pmc Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
    Hongmei Nan
    Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
    Int J Cancer 125:909-17. 2009
    ..We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer ..
  16. pmc Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    David L Duffy
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    J Invest Dermatol 130:520-8. 2010
    ..protein 1), MC1R, OCA2, IRF4 (interferon regulatory factor 4), SLC24A4 (solute carrier family 24, member 4), and SLC45A2 (solute carrier family 45, member 2)) for association with CMM risk in a large Australian population-based case-..
  17. doi A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism
    Aihua Wei
    Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Department of Dermatology, Xuan Wu Hospital, Capital Medical University, Beijing, China
    J Invest Dermatol 130:716-24. 2010
    ..We screened 127 unrelated and unselected Chinese OCA patients for mutations in the TYR, OCA2, TYRP1, SLC45A2, and HPS1 genes. We found that the spectrum of mutational genes and alleles of OCA is population specific...
  18. doi A decreasing gradient of 374F allele frequencies in the skin pigmentation gene SLC45A2, from the north of West Europe to North Africa
    Gérard Lucotte
    Institute of Molecular Anthropology, 44 rue Monge, Paris, France
    Biochem Genet 48:26-33. 2010
    The 374F mutation in the SLC45A2 gene, encoding the membrane-associated transporter protein (MATP) that plays an important role in melanin synthesis, has been suggested to be associated with skin color in Caucasians...
  19. doi MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis
    Maider Ibarrola-Villava
    Department of Haematology and Medical Oncology, Fundación Investigación Hospital Clínico INCLIVA, Valencia, Spain
    Eur J Cancer 48:2183-91. 2012
    ..in a meta-analysis conducted in three South European populations: five red hair colour (RHC) MC1R alleles, one SLC45A2 variant (p.Phe374Leu) and one thermosensitive TYR variant (p.Arg402Gln)...
  20. doi Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa
    Gérard Lucotte
    Institute of Molecular Anthropology, 44 Monge Street, 75005, Paris, France
    Biochem Genet 51:655-65. 2013
    The L374F polymorphism of the SLC45A2 gene, encoding the membrane-associated transporter protein that plays an important role in melanin synthesis, has been suggested to be associated with skin color in human populations...
  21. pmc Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4
    J M Newton
    Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ 85724, USA
    Am J Hum Genet 69:981-8. 2001
    ..We have identified the mouse underwhite gene (uw) and its human orthologue, which underlies a new form of human OCA, termed "OCA4...
  22. ncbi Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
    Uta Rundshagen
    Institut für Humangenetik der Universität Lübeck, Lubeck, Germany
    Hum Mutat 23:106-10. 2004
    ..OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene...
  23. ncbi Liver tumor promoting effects of fenbendazole in rats
    T Shoda
    Division of Pathology, National Institute of Health Sciences, Tokyo, Japan
    Toxicol Pathol 27:553-62. 1999
    ..Positive immunostaining for anti-CYP 1A1/2 or CYP 2B1/2 was observed diffusely in the livers of animals in the DEN+1,800 and DEN+3,600 ppm groups...
  24. ncbi Induction by xenobiotics of phase I and phase II enzyme activities in the human keratinocyte cell line NCTC 2544
    A Gelardi
    Department of Experimental Medicine, General Pathology Division, University of Genoa, Via L.B. Alberti, 16132, Genova, Italy
    Toxicol In Vitro 15:701-11. 2001
    ..dose-dependently inhibited by alpha-naphothflavone, which was given to the cells during the incubation with CYP 1A1 inducers...
  25. ncbi The effect of hydrostatic pressure on intervertebral disc metabolism
    W C Hutton
    Department of Orthopaedics, Emory University School of Medicine, Atlanta, Georgia, USA
    Spine (Phila Pa 1976) 24:1507-15. 1999
    ..3) The mRNA levels of collagen (Col 1A1 and Col 2A1) and aggrecan increased at 1 MPa in both the nucleus and anulus cells...
  26. ncbi Liver tumor-promoting effect of beta-naphthoflavone, a strong CYP 1A1/2 inducer, and the relationship between CYP 1A1/2 induction and Cx32 decrease in its hepatocarcinogenesis in the rat
    T Shoda
    Division of Pathology, National Institute of Health Sciences, Tokyo, Japan
    Toxicol Pathol 28:540-7. 2000
    Interrelationships among induction of cytochrome P-450 (CYP) 1A1/2, decrease in connexin 32 (Cx32), and liver tumor-promoting activity by beta-naphthoflavone (BNF) in the promotion stage were examined in a 2-stage liver carcinogenesis ..
  27. ncbi A study on the association of cytochrome-P450 1A1 polymorphism and breast cancer risk in north Indian women
    Virendra Singh
    Industrial Toxicology Research Centre, Mahatma Gandhi Marg, Post Box 80, Lucknow, 226 001, UP, India
    Breast Cancer Res Treat 101:73-81. 2007
    Cytochrome P-450 1A1 (CYP1A1) is involved in the 2-hydroxylation of estrogens and mammary carcinogens into 2-hydroxy catechol metabolites...
  28. pmc Contribution of human cytochrome p-450 isoforms to the metabolism of the simplest phenothiazine neuroleptic promazine
    Jacek Wojcikowski
    Department of Pharmacokinetics and Drug Metabolism, Institute of Pharmacology, Polish Academy of Sciences, Smetna 12, 31 343 Krakow, Poland
    Br J Pharmacol 138:1465-74. 2003
    ..promazine biotransformation by cDNA-expressed human CYPs (Supersomes 1A1, 1A2, 2A6, 2B6, 2C9, 2C19, 2E1, 3A4); (C)...
  29. ncbi Transplantation of fetal liver tissue suspension into the spleens of adult syngenic rats: effects of various mitogens and cytotoxins on cytochrome P450 (P450) isoforms expression and on P450 mediated monooxygenase functions
    A Lupp
    Institute of Pharmacology and Toxicology, Friedrich Schiller University Jena, Germany
    Exp Toxicol Pathol 51:375-88. 1999
    ..The expression of three cytochrome P450 (P450) isoforms, 1A1, 2B1 and 3A2, within spleens and livers was assessed by immunohistochemistry and P450 mediated monooxygenase ..
  30. ncbi Activation of microsomal glutathione S-transferase and inhibition of cytochrome P450 1A1 activity as a model system for detecting protein alkylation by thiourea-containing compounds in rat liver microsomes
    R C Onderwater
    Division of Molecular Toxicology, Leiden Amsterdam Center for Drug Research LACDR, Vrije Universiteit, De Boelelaan 1083, 1081 HV Amsterdam, The Netherlands
    Chem Res Toxicol 12:396-402. 1999
    ..In this study, the utility of activation of microsomal glutathione S-transferase (mGST) and inactivation of P450 1A1 as markers of the alkylating potential of metabolites of thiourea-containing compounds was investigated...
  31. ncbi N,N-diethyl-2-[4-(phenylmethyl)phenoxy] ethanamine (DPPE) a chemopotentiating and cytoprotective agent in clinical trials: interaction with histamine at cytochrome P450 3A4 and other isozymes that metabolize antineoplastic drugs
    L J Brandes
    Department of Medicine, University of Manitoba, Winnipeg, Canada
    Cancer Chemother Pharmacol 45:298-304. 2000
    ..Therefore, we assessed whether (a) DPPE and HA interact at CYP3A4 and other P450 human isozymes, and (b) DPPE inhibits the catalytic activity of CYP3A4...
  32. ncbi Human enzymes involved in the metabolic activation of carcinogenic aristolochic acids: evidence for reductive activation by cytochromes P450 1A1 and 1A2
    M Stiborova
    Department of Biochemistry, Faculty of Science, Charles University, Albertov 2030, 128 40 Prague 2, The Czech Republic
    Chem Res Toxicol 14:1128-37. 2001
    ..The inducer of P450 1A1/2, beta-naphthoflavone, significantly stimulated the levels of AA-DNA adducts formed by rat microsomes, but ..
  33. ncbi Evidence for a new human CYP1A1 regulation pathway involving PPAR-alpha and 2 PPRE sites
    E Seree
    FRE Centre National de la Recherche Scientifique, Faculte de Pharmacie, Marseille, France
    Gastroenterology 127:1436-45. 2004
    Cytochrome P450 1A1 catalyzes the degradation of endobiotics (estradiol, fatty acids, and so on) and the bioactivation of numerous environmental procarcinogens, such as arylamines and polycyclic aromatic hydrocarbons, that are found in ..
  34. ncbi Rapid determination of rat hepatocyte mRNA induction potential using oligonucleotide probes for CYP1A1, 1A2, 3A and 4A1
    D D Surry
    Department of Drug Metabolism and Pharmacokinetics, Merck Research Laboratories, Harlow, UK
    Xenobiotica 30:441-56. 2000
    ..to quantify mRNA levels in small numbers of rat hepatocytes has been developed for cytochrome P450 (CYP) isoforms 1A1, 1A2, 3A and 4A1...
  35. ncbi Purinoceptor-mediated contractility of the perfused uterine vasculature of the guinea-pig: influence of oestradiol and pregnancy
    John M Haynes
    Department of Pharmaceutical Biology and Pharmacology, Victorian College of Pharmacy, Monash University, Parkville, Victoria, Australia
    Clin Exp Pharmacol Physiol 30:329-35. 2003
    1. The effects of ATP, the stable ATP analogues alpha,beta-methylene ATP (alpha,beta-mATP), 2-methylthioATP (2meSATP) and adenosine tetraphosphate (ATP4), the pyrimidine nucleotide uridine 5'-triphosphate (UTP) and the alpha1-adrenoceptor ..
  36. ncbi Cytochrome P450 expression-induction profile and chemically mediated alterations of the WIF-B9 cell line
    Christine Biagini
    Pfizer Global R and D, Safety Sciences Europe, ZI Pocé sur Cisse, Amboise, France
    Biol Cell 98:23-32. 2006
    ..The morphological alterations provoked by chemical entities were also characterized...
  37. ncbi Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
    Gertrude E Costin
    Pigment Cell Biology Section, Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Sci 116:3203-12. 2003
    ..The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the membrane-associated transporter protein (MATP)...
  38. doi Calculated free bilirubin levels and neurotoxicity
    M J Daood
    Division of Newborn Medicine, Department of Pediatrics, Magee Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    J Perinatol 29:S14-9. 2009
    ..due to a deficiency of the bilirubin conjugating enzyme uridine-diphosphate-glucuronosyl transferase 1A1 were studied along with non-jaundiced littermate heterozygous J/j controls...
  39. ncbi Type I procollagen synthesis is regulated by steroids and related hormones in human osteosarcoma cells
    A Mahonen
    Department of Biochemistry and Biotechnology, University of Kuopio, Finland
    J Cell Biochem 68:151-63. 1998
    ..Expression of the COL 1A1 gene is regulated by transcriptional and post-transcriptional mechanisms...
  40. ncbi Comparative effects of fibrates on drug metabolizing enzymes in human hepatocytes
    Thomayant Prueksaritanont
    Department of Drug Metabolism, Merck Research Laboratories, West Point, Pennsylvania 19486, USA
    Pharm Res 22:71-8. 2005
    ..The induction potential of different fibric acid derivatives on human drug metabolizing enzymes was evaluated to help assess the role of enzyme induction on pharmacokinetic drug interactions...
  41. ncbi Localization and induction of cytochrome P450 1A1 and aryl hydrocarbon hydroxylase activity in rat nasal mucosa
    J M Voigt
    Department of Pharmacology, University of Iowa, Iowa City
    J Histochem Cytochem 41:877-85. 1993
    Cytochrome P450 1A1 was localized immunohistochemically and benzo[a]pyrene hydroxylase activity was identified in situ by means of fluorescence histochemistry in the nasal mucosa of untreated, 3-methylcholanthrene-treated or Aroclor 1254-..
  42. ncbi Constitutive and inducible levels of CYP1A1 and CYP1A2 in rat cerebral cortex and cerebellum
    Michael M Iba
    Department of Pharmacology and Toxicology, Ernest Mario School of Pharmacy and the Environmental and Occupational Health Sciences Institute, Rutgers University, 170 Frelinghuysen Road, NJ 08854, Piscataway, USA
    Arch Toxicol 77:547-54. 2003
    We examined the constitutive and inducible levels of microsomal cytochromes P450 1A1 and 1A2 (CYP1A) in rat cerebral cortex and cerebellum at the level of proteins by western blot analysis, and by catalytic activities via ethoxyresorufin ..
  43. ncbi Neonatal jaundice and bilirubin UDP-glucuronosyl transferase 1A1 gene polymorphism in Turkish patients
    Melih O Babaoglu
    Department of Pharmacology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Basic Clin Pharmacol Toxicol 98:377-80. 2006
    ..Variations in B-UGT gene (UGT-1A1) have been related to disorders characterised by hyperbilirubinaemia...
  44. ncbi Characteristic properties of a retinoic acid synthetic cytochrome P-450 purified from liver microsomes of 3-methylcholanthrene-induced rats
    S Tomita
    Department of Biochemistry, Kagawa Medical School, Japan
    Biochim Biophys Acta 1290:273-81. 1996
    ..The amino-acid sequence of the N-terminal region of the P-450 was identical to that of rat P-450 1A1 (CYP 1A1)...
  45. ncbi Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
    Caroline Rooryck
    Service de Genetique Medicale, Centre Hospitalier Universitaire, Bordeaux, France
    Pigment Cell Res 19:239-42. 2006
    ..identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, TYRP1), and OCA4 (membrane-associated transporter protein, MATP)...
  46. ncbi The underwhite (uw) locus acts autonomously and reduces the production of melanin
    A L Lehman
    Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 115:601-6. 2000
    ..Mutations at the mouse underwhite locus confer one of the most severe hypopigmentation phenotypes, similar to mutations at the pink-eyed dilution ..
  47. ncbi Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism
    Michael Kaplan
    Department of Neonatology, Clinical Genetics Service, Shaare Zedek Medical Center, Faculty of Medicine of the Hebrew University, Jerusalem, Israel
    Hepatology 35:905-11. 2002
    ..Both parameters were related to UDP-glucuronosyltransferase 1A1 (UGT) promoter polymorphism, associated with Gilbert's syndrome, in term male newborns...
  48. ncbi Metabolic activation of heterocyclic amines and other procarcinogens in Salmonella typhimurium umu tester strains expressing human cytochrome P4501A1, 1A2, 1B1, 2C9, 2D6, 2E1, and 3A4 and human NADPH-P450 reductase and bacterial O-acetyltransferase
    Y Oda
    Osaka Prefectural Institute of Public Health, Higashinari ku, 537 0025, Osaka, Japan
    Mutat Res 492:81-90. 2001
    ..typhimurium) OY1002/1A1, OY1002/1A2, OY1002/1B1, OY1002/2C9, OY1002/2D6, OY1002/2E1 and OY1002/3A4, which express respective human P450 ..
  49. ncbi Changes in the expression of cytochrome P450 isozymes and related carcinogen metabolizing enzyme activities in Schistosoma mansoni-infected mice
    S A Sheweita
    Department of Bioscience and Technology, Institute of Graduate Studies and Research, Alexandria University, Egypt
    J Helminthol 76:71-8. 2002
    ..i.) and compared with appropriately matched controls. The expression of each of the CYP isozymes (1A1, 2B1/2, 2C6, and 4A) was either unaffected or transiently increased up to 30 days post-infection...
  50. ncbi Tissue-specific induction of cytochromes P450 1A1 and 1B1 by polycyclic aromatic hydrocarbons and polychlorinated biphenyls in engineered C57BL/6J mice of arylhydrocarbon receptor gene
    Tsutomu Shimada
    Osaka Prefectural Institute of Public Health, 3 69 Nakamichi 1 chome, Higashinari ku, Osaka 537 0025, Japan
    Toxicol Appl Pharmacol 187:1-10. 2003
    Tissue-specific induction of mRNA of cytochrome P450 (P450 or CYP) 1A1 and 1B1 by polycyclic aromatic hydrocarbons (PAHs) and polychlorinated biphenyls (PCBs) was investigated in wild and arylhydrocarbon receptor (AhR)-deficient C57BL/6J ..
  51. ncbi Metabolic activation of polycyclic aromatic hydrocarbons and other procarcinogens by cytochromes P450 1A1 and P450 1B1 allelic variants and other human cytochromes P450 in Salmonella typhimurium NM2009
    T Shimada
    Osaka Prefectural Institute of Public Health, 3 69 Nakamichi 1 chome, Higashinari ku, Osaka 537 0025, Japan
    Drug Metab Dispos 29:1176-82. 2001
    ....
  52. ncbi Arylhydrocarbon receptor-dependent induction of liver and lung cytochromes P450 1A1, 1A2, and 1B1 by polycyclic aromatic hydrocarbons and polychlorinated biphenyls in genetically engineered C57BL/6J mice
    Tsutomu Shimada
    Osaka Prefectural Institute of Public Health, 3 69 Nakamichi 1 chome, Higashinari ku, Osaka 537 0025, Japan
    Carcinogenesis 23:1199-207. 2002
    ..probably reflecting the inability of these mice to express significant levels of cytochrome P450 (P450 or CYP) 1A1 that activates B[a]P to reactive metabolites (Y. Shimizu, Y. Nakatsuru, M. Ichinose, Y. Takahashi, H. Kume, J...
  53. ncbi Specificity and regioselectivity of the conjugation of estradiol, estrone, and their catecholestrogen and methoxyestrogen metabolites by human uridine diphospho-glucuronosyltransferases expressed in endometrium
    Johanie Lepine
    Department of Molecular Endocrinology and Oncology, G1V 4G2 Quebec, Canada
    J Clin Endocrinol Metab 89:5222-32. 2004
    ..Six UGTs, namely 1A1, 1A3, 1A8, 1A9, 1A10, and 2B7, were found to glucuronidate estradiol (E(2)) and estrone (E(1)), their hydroxyls (OH)..
  54. ncbi Activation of heterocyclic aromatic amines by rat and human liver microsomes and by purified rat and human cytochrome P450 1A2
    R J Turesky
    Nestle Research Center, Nestec Ltd, Vers chez les Blanc, 1000 Lausanne 26, Switzerland
    Chem Res Toxicol 11:925-36. 1998
    ..PhIP) are activated to genotoxins by rat and human liver cytochrome P450 (P450) 1A1- and 1A2-mediated N-oxidation...
  55. ncbi Inducibility of AhR-regulated CYP genes by beta-naphthoflavone in the liver, lung, kidney and heart of the pig
    Vera Chirulli
    Istituto di Fisiologia Clinica, CNR, Via Moruzzi 1, 56100 Pisa, Italy
    Toxicology 240:25-37. 2007
    The presence and inducibility of CYP enzymes belonging to the family 1 (CYP 1A1, 1A2 and 1B1) and AhR have been studied in liver, lung, kidney and heart of control and beta-naphthoflavone (beta NF)-treated pigs...
  56. pmc Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter
    Shoji Fukamachi
    Department of Integrated Biosciences, University of Tokyo, Chiba, Japan
    Genetics 178:761-9. 2008
    ..mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene-phenotype relationship...
  57. ncbi 7-Ethoxycoumarin O-deethylation catalyzed by cytochromes P450 1A2 and 2E1 in human liver microsomes
    H Yamazaki
    Osaka Prefectural Institute of Public Health, Japan
    Biochem Pharmacol 51:313-9. 1996
    ..in liver microsomes of mammals, and extensive studies have shown that in rats and mice the major catalysts are P450 1A1, 1A2, and 2B enzymes...
  58. ncbi Identification of multiple constitutive and inducible hepatic cytochrome P450 enzymes in market weight swine
    M J Myers
    Division of Animal Research, Office of Research, Center for Veterinary Medicine, Food and Drug Administration, Laurel, Maryland 20708, USA
    Drug Metab Dispos 29:908-15. 2001
    ..cocktail containing beta-naphthoflavone, phenobarbital, and dexamethasone induced immunoreactive homologs of 1A1, 1A2, 2B1, 2B2, 3A1, and 3A2...
  59. ncbi The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development
    Laura L Baxter
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49, Convent Drive, Building 49, Room 4A82, Bethesda, MD 20892 4472, USA
    Mech Dev 116:209-12. 2002
    ..Natl Acad. Sci. USA (2002) in press). Mutations in MATP result in pigmentation alterations in mice (underwhite, uw), in medaka (b-locus), and in man (Oculocutaneous Albinism Type 4, OCA4) (Nat. Genet. 28 (2001) 381; Am. J...
  60. ncbi 3-aminobenzanthrone, a human metabolite of the environmental pollutant 3-nitrobenzanthrone, forms DNA adducts after metabolic activation by human and rat liver microsomes: evidence for activation by cytochrome P450 1A1 and P450 1A2
    Volker M Arlt
    Section of Molecular Carcinogenesis, Institute of Cancer Research, Brookes Lawley Building, Cotswold Road, Sutton, Surrey SM2 5NG, United Kingdom
    Chem Res Toxicol 17:1092-101. 2004
    ..On the basis of this analysis, most of the hepatic microsomal activation of 3-ABA was attributable to P450 1A1 and 1A2 enzyme activity...
  61. ncbi A competitive inhibition enzyme immunoassay for detection and quantification of organophosphorus compounds
    P Schmidt
    , , , , Bundesrepublik Deutschland
    Z Naturforsch C 43:167-72. 1988
    ..method for detection and quantification of methyl phosphonic acid, p-aminophenyl 1,2,2-trimethyl-propyl diester (MATP) as a model substance for organophosphorus compounds is described...
  62. pmc Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail
    Ulrika Gunnarsson
    Department of Medical Biochemistry and Microbiology, Uppsala University, SE 75124 Uppsala, Sweden
    Genetics 175:867-77. 2007
    ..The solute carrier family 45, member 2, protein (SLC45A2), previously denoted membrane-associated transporter protein (MATP), has an important role in vesicle sorting in ..
  63. ncbi Association of GABA(B)R1 receptor gene polymorphism with obstructive sleep apnea syndrome
    Yildirim A Bayazit
    Department of Otolaryngology, Faculty of Medicine, Gazi University, Ankara, Turkey
    ORL J Otorhinolaryngol Relat Spec 69:190-7. 2007
    ..The nucleotide exchanges cause a substitution of alanine to valine in exon 1a1 (Ala20Val), a substitution of glycine to serine in exon 7 (Gly489Ser) and a silent C to G nucleotide exchange ..
  64. ncbi The proximate carcinogen trans-3,4-dihydroxy-3,4-dihydro-dibenz[c,h]acridine is oxidized stereoselectively and regioselectively by cytochrome 1A1, epoxide hydrolase and hepatic microsomes from 3-methylcholanthrene-treated rats
    J D Adams
    University of Southern California, School of Pharmacy, Los Angeles 90089 9121, USA
    Chem Biol Interact 122:117-35. 1999
    ..The dihydrodiol is metabolized at a rate of 2.4 nmol/nmol of cytochrome P450 1A1/min with microsomes from 3-methylcholanthrene-treated rats, a rate more than 10-fold higher than that observed with ..
  65. ncbi Inhalation of toluene diisocyanate affects cytochrome P450 2B1 expression in rat lung
    F Pons
    INSERM U425, Neuroimmunopharmacologie Pulmonaire, Faculte de Pharmacie, Illkirch, France
    Arch Toxicol 74:397-403. 2000
    ..We investigated the effect of inhaled TDI on expression of CYP 1A1, 2B1, 2E1, and 3A1 and of alpha-, mu-, and pi-GST in rat lung. Animals were exposed to targeted concentrations of 0...
  66. ncbi Cytochrome P450 1B1 determines susceptibility to dibenzo[a,l]pyrene-induced tumor formation
    Jeroen T M Buters
    Institut für Toxikologie und Umwelthygiene, Technische Universitat Munchen, Lazarettstrasse 62, 80636 München, Germany
    Chem Res Toxicol 15:1127-35. 2002
    ..To elucidate different capabilities of murine P450 1A1 and 1B1 for metabolic activation of DB[a,l]P, V79 cell cultures stably expressing P450s 1A1 or 1B1 from mice were ..
  67. pmc Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis
    Yang Yang Huang
    Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan, China
    World J Gastroenterol 11:5710-3. 2005
    To test the hypothesis that the variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of ..
  68. ncbi [Steroid and xenobiotic receptor (SXR), multidrug resistance gene (MDR1) and GSTs, SULTs and CYP polymorphism expression in invasive bladder cancer, analysis of their expression and correlation with other prognostic factors]
    J Rioja Zuazu
    Departamento de Urologia, Clinica Universitaria, Universidad de Navarra, Pamplona
    Actas Urol Esp 31:1107-16. 2007
    ..involved in Policyclic Aromatic hidrocarbures (PAH) metabolism and degradation are polymorphic in humans, including glutation S-transferases (GSTs), N-acetiltransferases (NATs), sulfotransferases (SULTs)1A1 and cytochrome p450 (CYP)1B1.
  69. doi Irinotecan and uridine diphosphate glucuronosyltransferase 1A1 pharmacogenetics: to test or not to test, that is the question
    John F Deeken
    Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, District of Columbia 20007, USA
    Cancer 113:1502-10. 2008
    ..indicates a relationship between a polymorphism in the gene encoding uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) and irinotecan inactivation, in that degradation of SN-38, the active metabolite of irinotecan, correlates ..
  70. doi Influence of N-terminal domain histidine and proline residues on the substrate selectivities of human UDP-glucuronosyltransferase 1A1, 1A6, 1A9, 2B7, and 2B10
    Oranun Kerdpin
    Department of Clinical Pharmacology, Flinders University School of Medicine, Flinders Medical Centre, Bedford Park, SA 5042, Australia
    Drug Metab Dispos 37:1948-55. 2009
    An N-terminal domain histidine [corresponding to position 39 of UDP-glucuronosyltransferase (UGT) 1A1] is conserved in all UGT1A and UGT2B subfamily proteins except UGT1A4 (Pro-40) and UGT2B10 (Leu-34)...
  71. pmc Genetic polymorphisms in the TATA box and upstream phenobarbital-responsive enhancer module of the UGT1A1 promoter have combined effects on UDP-glucuronosyltransferase 1A1 transcription mediated by constitutive androstane receptor, pregnane X receptor, or
    Ye Li
    Department of Pharmacology, Toxicology, and Therapeutics, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160, USA
    Drug Metab Dispos 37:1978-86. 2009
    Transcription of UDP-glucuronosyltransferase (UGT) 1A1 is regulated by the transcription factors, constitutive androstane receptor (CAR), pregnane X receptor (PXR), glucocorticoid receptor (GR), hepatocyte nuclear factor (HNF) 1 alpha, ..
  72. pmc Histone deacetylase inhibitors valproate and trichostatin A are toxic to neuroblastoma cells and modulate cytochrome P450 1A1, 1B1 and 3A4 expression in these cells
    Jana Hřebačková
    Department of Pediatric Hematology and Oncology, 2 Medical School, Charles University and University Hospital Motol, Prague 5, Czech Republic
    Interdiscip Toxicol 2:205-10. 2009
    ..Another target of this work was to evaluate the effects of both drugs on expression of cytochrome P450 (CYP) 1A1, 1B1 and 3A4 enzymes, which are known to be expressed in neuroblastoma cells...
  73. ncbi Megakaryocytes modulate osteoblast synthesis of type-l collagen, osteoprotegerin, and RANKL
    S Bord
    Cambridge University School of Clinical Medicine, Addenbrooke s Hospital, Box 157, Cambridge CB2 2QQ, UK
    Bone 36:812-9. 2005
    ..Similar cultures were used for RNA extraction with mRNA for Col 1A1, OPG, and RANKL in osteoblasts measured quantitatively by RT-PCR...
  74. ncbi Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and association with breast cancer among African Americans
    C Guillemette
    Department of Biology and Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139, USA
    Cancer Res 60:950-6. 2000
    We examined the role of constitutional genetic variation at the UDP-glucuronosyltransferase (UGT) 1A1 locus in breast cancer susceptibility. The UGT1A1 enzyme is a major UGT involved in estradiol glucuronidation...
  75. ncbi Failure of Ah receptor to mediate induction of cytochromes P450 in the CYP1 family in the human hepatoma line SK-Hep-1
    E A Roberts
    Metabolism Programme, The Hospital for Sick Children Research Institute, University of Toronto, Ontario, Canada
    Arch Biochem Biophys 384:190-8. 2000
    The Ah receptor mediates the induction of cytochrome P450 1A1 (CYP1A1) and toxicities of 2,3,7,8tetrachlorodibanzo-p-dioxin (TCDD). It has been detected in tissues of many species and in murine and human hepatoma lines...
  76. ncbi Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 (UGT1A1) and risk of breast cancer
    Olufemi J Adegoke
    Department of Surgery, School of Medicine, Meharry Medical College, Vanderbilt University, Nashville, TN 37208, USA
    Breast Cancer Res Treat 85:239-45. 2004
    Uridine diphospho-glucuronosyltransferase 1A1 (UGT1A1) is involved in catalyzing estrogen, the hormone that plays a central role in the etiology of breast cancer...
  77. ncbi Suppressive effects of caraway (Carum carvi) extracts on 2, 3, 7, 8-tetrachloro-dibenzo-p-dioxin-dependent gene expression of cytochrome P450 1A1 in the rat H4IIE cells
    B Naderi-Kalali
    Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modarres University, P O BOX 14115 111, Tehran, Iran
    Toxicol In Vitro 19:373-7. 2005
    Cytochrome P450 1A1 (CYP1A1) is among the cytochrome P450 classes known to convert xenobiotics and endogenous compounds to toxic and/or carcinogenic metabolites...
  78. ncbi Inhibition of human cytochrome P450 1A1-, 1A2-, and 1B1-mediated activation of procarcinogens to genotoxic metabolites by polycyclic aromatic hydrocarbons
    Tsutomu Shimada
    Department of Biochemistry and Center in Molecular Toxicology, Vanderbilt University School of Medicine, 606 Light Hall, 2215 Garland Avenue, Nashville, Tennessee 37232 0146, USA
    Chem Res Toxicol 19:288-94. 2006
    ..PAHs require metabolic activation by cytochrome P450 (P450) enzymes, primarily 1A1, 1A2, and 1B1...
  79. ncbi Sulindac regulates the aryl hydrocarbon receptor-mediated expression of Phase 1 metabolic enzymes in vivo and in vitro
    Henry P Ciolino
    Cellular Defense and Carcinogenesis Section, Laboratory of Metabolism, Center for Cancer Research, National Cancer Institute at Frederick, National Institutes of Health Frederick, MD, USA
    Carcinogenesis 27:1586-92. 2006
    ..the enzymes that mediate the initial detoxification steps of many environmental carcinogens, the cytochromes P450 1A1, 1A2 and 1B1...
  80. pmc Cost effectiveness of pharmacogenetic testing for uridine diphosphate glucuronosyltransferase 1A1 before irinotecan administration for metastatic colorectal cancer
    Heather Taffet Gold
    Department of Public Health, Weill Cornell Medical College, New York, NY, USA
    Cancer 115:3858-67. 2009
    ..was to examine the cost effectiveness of using a pharmacogenetic test for uridine diphosphate glycosyltransferase 1A1*28 (UGT1A1*28) variant homozygosity before administering irinotecan to patients with metastatic colorectal cancer.
  81. ncbi Determinants of protein modification versus heme alkylation: inactivation of cytochrome P450 1A1 by 1-ethynylpyrene and phenylacetylene
    W K Chan
    Department of Pharmaceutical Chemistry, School of Pharmacy, University of California, San Francisco 94143 0446
    Chem Res Toxicol 6:38-45. 1993
    ..the factors that determine whether heme or protein alkylation occurs, we have investigated the cytochrome P450 1A1-catalyzed oxidation of 1-ethynylpyrene (1-EP) and phenylacetylene (PA)...
  82. ncbi Antimutagenicity of flavones and flavonols to heterocyclic amines by specific and strong inhibition of the cytochrome P450 1A family
    K Kanazawa
    Department of Biofunctional Chemistry, Faculty of Agriculture, Kobe University, Japan
    Biosci Biotechnol Biochem 62:970-7. 1998
    ..value, when determined with a Saccharomyces cerevisiae AH22 cell simultaneously expressing both rat cytochrome P450 1A1 and yeast reductase...
  83. ncbi Induction of cytochrome P-450 1A1 by omeprazole in human HepG2 cells is protein tyrosine kinase-dependent and is not inhibited by alpha-naphthoflavone
    H Kikuchi
    Research Institute of Development, Aging and Cancer, Tohoku University, Sendai, 980 8575, Japan
    Arch Biochem Biophys 358:351-8. 1998
    ..Thus, omeprazole appears to induce CYP1A1 by initiating a protein tyrosine kinase-mediated signal transduction pathway, a different pathway from that inhibited by TCDD...
  84. ncbi Structural and mechanistic aspects of transcriptional induction of cytochrome P450 1A1 by benzimidazole derivatives in rat hepatoma H4IIE cells
    M Backlund
    Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
    Eur J Biochem 261:66-71. 1999
    ..3- and 23-fold induction by omeprazole and TCDD, respectively. Thus, these data indicate that the benzimidazoles utilize the aryl hydrocarbon receptor-arnt-XRE-mediated signal-transduction pathway for induction of the CYP1A1 gene...
  85. ncbi Inducibility of hepatic CYP1A enzymes by 3-methylcholanthrene and isosafrole differs in male rats fed diets containing casein, soy protein isolate or whey from conception to adulthood
    M J Ronis
    Arkansas Children s Nutrition Center, Arkansas Children s Hospital Research Institute and Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    J Nutr 131:1180-8. 2001
    Hepatic cytochrome P450 (CYP)1A1 and 1A2 enzymes were studied in male Sprague-Dawley rats derived from 5-7 litters fed diets in which the protein source was casein, soy protein isolate or whey...
  86. ncbi Metabolism of equilenin in MCF-7 and MDA-MB-231 human breast cancer cells
    D C Spink
    Wadsworth Center, New York State Department of Health, Albany, New York 12201 0509, USA
    Chem Res Toxicol 14:572-81. 2001
    ..MCF-7 cells respond to treatment with Ah-receptor agonists with induction of cytochromes P450 1A1 and 1B1, whereas in MDA-MB-231 cells P450 1B1 is predominantly induced...
  87. ncbi Influence of genetic variants in UGT1A1 and UGT1A9 on the in vivo glucuronidation of SN-38
    Luca Paoluzzi
    Clinical Pharmacology Research Core, National Cancer Institute, Building 10, Room 5A01, MSC 1910, 9000 Rockville Pike, Bethesda, MD 20892, USA
    J Clin Pharmacol 44:854-60. 2004
    The uridine diphosphate glucuronosyltransferase (UGT) 1A1 and 1A9 isoforms are involved in the phase II biotransformation of the irinotecan metabolite, SN-38...
  88. ncbi Identification of a pharmacogenetic effect by linkage disequilibrium mapping
    C F Xu
    Discovery and Pipeline Genetics, GlaxoSmithKline Medicines Research Centre, Stevenage, Hertfordshire, UK
    Pharmacogenomics J 4:374-8. 2004
    ..7 megabase region flanking the uridine diphosphate glucuronosyltranserferase 1A1 gene...
  89. ncbi Expression of cytochrome P450 1A1 and its contribution to oxidation of a potential human carcinogen 1-phenylazo-2-naphthol (Sudan I) in human livers
    Marie Stiborova
    Department of Biochemistry, Faculty of Science, Charles University, Albertov 2030, 128 40 Prague 2, Czech Republic
    Cancer Lett 220:145-54. 2005
    Cytochrome P450 1A1 (CYP1A1) is one of the most important enzymes implicated in the metabolic activation of carcinogens. To date, there is still conflicting evidence for the expression of enzymatically functional CYP1A1 in human liver...
  90. ncbi Low levels of CC16 in nasal fluid of children with birch pollen-induced rhinitis
    S Johansson
    Department of Pediatrics, Goteborg University, Queen Silvia Children s Hospital, Goteborg, Sweden
    Allergy 60:638-42. 2005
    Clara cell protein 16 (CC16; secretoglobin 1A1) is an anti-inflammatory protein mainly expressed in the epithelial cells in the airways.
  91. ncbi High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
    Shiro Ito
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Invest Dermatol 125:715-20. 2005
    ..OCA patients who lacked mutations in the four genes known to cause OCA (TYR/OCA1, P/OCA2, TYRP1/OCA3, and MATP/OCA4), and the identification of eight different HPS1 mutations in ten of these patients, four of which were novel (..
  92. ncbi Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
    Heather L Norton
    Department of Anthropology, The Pennsylvania State University, PA, USA
    Mol Biol Evol 24:710-22. 2007
    ..Additionally, we demonstrated a role for MATP in determining normal skin pigmentation variation using admixture mapping methods...
  93. ncbi [A prevalent genetic variety of UDP-glycuronosyl transferase predicts high risk of irinotecan toxicity]
    Matias Valsecchi
    Laboratorio de Biología y Patología Molecular Universidad de Buenos Aires, Argentina
    Medicina (B Aires) 67:57-60. 2007
    ..of the number of thymine-adenine (TA) dinucleotics in the promoter region of the UDP-glucuronosyl-transferase 1A1 enzime (TA indel) proved to be capable of predicting severe neutropenia in patients exposed to intermediate or high ..
  94. ncbi UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia
    J B Singer
    Clinical Pharmacogenetics, Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA
    Leukemia 21:2311-5. 2007
    ..Uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) glucuronidates bilirubin in humans, and a polymorphism in the promoter of the gene that encodes it has ..
  95. ncbi Modulation of TCDD-mediated induction of cytochrome P450 1A1 by mercury, lead, and copper in human HepG2 cell line
    Hesham M Korashy
    Faculty of Pharmacy and Pharmaceutical Sciences, 3126 Dentistry Pharmacy Centre, University of Alberta, Edmonton, AB, Canada T6G 2N8
    Toxicol In Vitro 22:154-8. 2008
    ..heavy metals, mercury (Hg(2+)), lead (Pb(2+)), and copper (Cu(2+)), on the induction of cytochrome P450 1A1 (CYP1A1) by 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), the most potent PAH...
  96. ncbi Induction of zone-like liver function gradients in HepG2 cells by varying culture medium height
    James P Camp
    Department of Chemical and Biomolecular Engineering, University of Houston, Houston, Texas 77204 4004, USA
    Biotechnol Prog 23:1485-91. 2007
    ..in a 12-well plate format, we show that the height of culture medium has a significant effect on cytochrome P450 1A1 detoxification activity, glucose metabolism, and cell morphology of HepG2 hepatocellular carcinoma cultures...
  97. doi Roles of cytosolic phospholipase A2 and Src kinase in the early action of 2,3,7,8-tetrachlorodibenzo-p-dioxin through a nongenomic pathway in MCF10A cells
    Bin Dong
    Department of Environmental Toxicology, University of California, Davis, One Shields Avenue, Davis, CA 95616, USA
    Mol Pharmacol 74:255-63. 2008
    ..This action of TCDD is quite different from the classic action of TCDD to induce cytochrome P450 1A1 (CYP1A1) because blocking this newly identified pathway did not affect the induction of CYP1A1...
  98. pmc Mitochondrial targeting of cytochrome P450 proteins containing NH2-terminal chimeric signals involves an unusual TOM20/TOM22 bypass mechanism
    Hindupur K Anandatheerthavarada
    Department of Animal Biology and Mari Lowe Center for Comparative Oncology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 284:17352-63. 2009
    ..CYP+33/1A1 and CYP2B1 did not require peripheral TOM70, TOM20, or TOM22 for translocation through the channel-forming TOM40 ..
  99. doi Selective inhibition of methoxyflavonoids on human CYP1B1 activity
    Hitomi Takemura
    Institute for Environmental Sciences, University of Shizuoka, 52 1 Yada, Suruga, Shizuoka 422 8526, Japan
    Bioorg Med Chem 18:6310-5. 2010
    ..and isorhamnetin fit well into the active site of CYP1B1, but do not fit into the active site of CYP1A2 and 1A1 because of steric collisions between the methoxy substituent of these methoxyflavonoids and Ser-122 in CYP1A1 and ..
  100. doi Maternal allergy acts synergistically with cigarette smoke exposure during pregnancy to induce hepatic fibrosis in adult male offspring
    Jorge Allina
    Department of Environmental Medicine, New York University School of Medicine, Tuxedo, NY, USA
    J Immunotoxicol 8:258-64. 2011
    ..2% collagen content vs. <4% for all other treatment groups). These mice also had 1.8-fold greater collagen 1A1 mRNA levels...
  101. doi Stem-like cells with luminal progenitor phenotype survive castration in human prostate cancer
    Markus Germann
    Department of Urology, University of Bern, Bern, Switzerland
    Stem Cells 30:1076-86. 2012
    ..SC-like BM18 cells, displaying the SC markers aldehyde dehydrogenase 1A1 or NANOG, coexpress the luminal markers NKX3-1, CK18, and a low level of AR (AR(low)) but not basal or NE markers...

Research Grants68

  1. Interplay between metabolism and FXR activation in scoparone signaling
    Bingfang Yan; Fiscal Year: 2013
    ..protective compound and has been shown to induce mouse uridine diphosphate-5[unreadable]-glucuronosyltransferase-1A1 (UGT1A1), a bilirubin detoxification enzyme...
  2. Susceptibility to methylmercury toxicity: A role for cytochrome p450 enzymes
    Matthew D Rand; Fiscal Year: 2013
    ..In Aim1 we will determine the relative activity of each of the CYP3A isozymes in conferring MeHg tolerance during ..
  3. JOHANNES NICOLAAS VAN DEN ANKER; Fiscal Year: 2014
    ..defined by both gestational, and postnatal age) to UDP-glucuronosyltransferase 1A6 (UGT1A6) and sulfotransferase 1A1 (SULT1A1) activity. 2...
  4. CYP1A1 GENOTYPE & INDUCIBIL PHENOTYPE-HUM LUNG CA RISK
    Jennifer Hu; Fiscal Year: 1992
    DESCRIPTION: (Adapted from applicant's description) Cytochrome P450 lAl (CYP 1A1), is involved in the bioactivation of a number of procarcinogenes, including aromatic amines and other hydrocarbons, important human lung carcinogens...
  5. Aaron M Rowland; Fiscal Year: 2014
    ..We will address our hypothesis, and determine the impact of CYP2S1 expression (Aim1) and function (Aim2), on lung carcinogenesis using a combination of cell-based and biochemical approaches...
  6. Robert H Tukey; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Human UDP-glucuronosyltransferase 1A1, which is part of 9-UGT1A proteins encoded by the UGT1 locus, plays a key role in many aspects of normal pathophysiology...
  7. INHERITED DISORDERS OF HEPATIC BILIRUBIN GLUCORONIDATION
    Namita Roy Chowdhury; Fiscal Year: 2006
    ..excretion of bilirubin requires glucuronidation mediated by uridinediphosphoglucuronate glucuronosyltransferase-1A1 (UGT1A1), the catalytic site of which is located inside the hepatocyte endoplasmic reticulum (ER) lumen...
  8. Regulated Properties of the Human UGT1A1 Gene.
    Robert Tukey; Fiscal Year: 2006
    DESCRIPTION (provided by applicant): Human UDP-glucuronosyltransferase 1A1 is involved in the metabolism of endogenous agents such as bilirubin in addition to many clinically used therapeutics...
  9. Glutathione S-Transferase Functions in Chemoprevention
    Alan Townsend; Fiscal Year: 2009
    ..V79 cell lines that stably express human GSTP1, GSTM1, or GSTA1, alone and also in combination with human P450-1A1 or-1B1, with addition of -1A2...
  10. Genome-Wide Analysis of RXR-alpha Binding In Mouse Liver Chromatin with ChIP-SEQ
    SAUL JOSEPH KARPEN; Fiscal Year: 2010
    ..of RXR( binding in vivo and after IL-1[unreadable] induced inflammation: We hypothesize that the findings of Aim1 will need to be validated in detail for select genes and regions in order to confirm the global findings...
  11. Development of New Molecular Probes for Diagnostic Imaging of Atherosclerosis
    KAREN CATHERIN BRILEY SAEBO; Fiscal Year: 2010
    ..b>Aim1 will focus on the synthesis, characterization, and MR efficacy of MDA2 labeled Mn(II) micelles and lipid coated ..
  12. Alcohol-Induced Fatty Liver and Injury in Humanized CYP2E1 Knockin Mice.
    Arthur I Cederbaum; Fiscal Year: 2011
    ..g. 1 to 6 weeks. Controls will be pair-fed with dextrose. AIM1 is designed to evaluate mechanisms by which elevated expression of CYP2E1 causes hepatotoxicity in the ethanol-fed ..
  13. SUSAN ANTONE MARONEY; Fiscal Year: 2014
    ..In Aim1 we will sequence the exons and 5'promoter region of the TFPI gene in all individuals to identify any ..
  14. Building a Better AMD Mouse
    Caroline J Zeiss; Fiscal Year: 2010
    ..The long term goal of this study is to combine the models developed in Aim1 and 2 to provide a comprehensive mouse model of progressive (i.e dry to wet) AMD in humans...
  15. A novel diagnostic biomarker for hepatocellular carcinoma and cholangiocarcinoma
    Xuanyong Lu; Fiscal Year: 2012
    ..Approach: In phase I, Aim1: We will develop a prototype test system for quantifying LC-SPIK by constructing a specific monoclonal antibody ..
  16. Regulation of SULT1A1 in Human Breast
    SUSAN A KADLUBAR; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Sulfotransferase isoform 1A1 (SULT1A1) is a Phase II xenobiotic metabolizing enzyme that catalyzes the sulfation of a host of structurally diverse endo- and xenobiotics, including tamoxifen (TAM) and ..
  17. Molecular pathogenesis of autosomal dominant polycystic liver disease (ADPLD)
    SORIN VASILE FEDELES; Fiscal Year: 2010
    ..current proposal we wil assess the genetic interaction between Prkcsh/Sec63 and Pkd1/Pkd2/Pkhd1 using mouse models (Aim1) and isolate and characterize murine Prkcsh-/- and Sec63-/- epithelial cell line models and investigate associated ..
  18. Blocking toll-like receptor 4 signaling as therapy in hepatic fibrosis
    BERND G SCHNABL; Fiscal Year: 2013
    ..We want to further define the signaling pathways and mechanisms by which TLR4 mediates its effects in HSCs (aim1)...
  19. CLEIDOCRANIAL DYSPLASIA DENTAL PHENOTYPE AND GENOTYPE CORRELATIONS
    David K Crossman; Fiscal Year: 2012
    ..Specific Aim1 is to correlate the dental phenotype of identified CCD families with their genotype and Specific Aim 2 is to ..
  20. Inflammation Genes and Lung Cancer Risk
    Margaret R Spitz; Fiscal Year: 2013
    ..1000 cases and 1000 controls, using a GoldenGate assay, we will evaluate the top 1500 SNPs identified from Aim1 as meeting the P<0...
  21. SB Transposons for Gene Therapy
    Perry B Hackett; Fiscal Year: 2013
    ..the duration of expression of IDUA following delivery of SB transposon vectors in the presence of immune responses (Aim1). The second is to develop an effective delivery of SB transposons into dog liver (Aims 2 and 3)...
  22. Kyunghee Choi; Fiscal Year: 2016
    ..b>Aim1 will determine the window of time that ER71 functions in hematopoietic induction...
  23. Dana B Hancock; Fiscal Year: 2015
    ..In Aim1, we will obtain genome-wide SNP genotype data from 14 study samples and harmonize their FTND phenotype data...
  24. Michael M Chen; Fiscal Year: 2016
    ..To test this hypothesis, we will use our well-established mouse model of alcohol exposure and burn injury to (Aim1) determine the effects of episodic binge ethanol on the post burn hepatic response...
  25. W Ray Kim; Fiscal Year: 2015
    ..In AIM1, we will evaluate renal histology as a predictor of post-LTx renal function...
  26. Biomarkers of spontaneous acute hepatitis C virus resolution
    Suganya Selvarajah; Fiscal Year: 2013
    ..In Specific Aim1, we will determine IP-10, TNF-??, IL-10, sIL-2Ra and TGF-?? expression kinetics in sera during acute HCV infection ..
  27. ALLAN EDWARD RETTIE; Fiscal Year: 2016
    ..With these tools in hand, we propose, in Aim1, to evaluate the roles of CYP4F2 and CYP4F11 in vitamin K catabolism...
  28. Genome-Wide Association Study of Food Allergy
    Xiaobin Wang; Fiscal Year: 2010
    ..We propose a two-stage GWA study. Specifically, Aim1 (Stage 1 GWA study): We will genotype a total of 500 FA affected trios (mother, father, and FA affected child, a ..
  29. Markus Grompe; Fiscal Year: 2015
    ..In this application, we propose to systematically explore the function of key genes unique to adult LPC (Aim1), to use genomic approaches to understand the oval cell activation process in greater depth (Aim2) and to test the ..
  30. Malaria: Immunity and Diversity in Low Transmission
    OraLee H Branch; Fiscal Year: 2010
    ..vivax and malaria drug consumption (AIM1). To test our SIDMI hypothesis, we will determine how the resistance is related to successive P. falciparum and P...
  31. Hypoxia-inducible factors in alcoholic liver disease
    Gyongyi Szabo; Fiscal Year: 2010
    ..These hypotheses will be tested in the following Specific Aims: AIM1 To evaluate and compare the role of HIF1a and HIF2a in the pathogenesis of alcoholic steatosis by investigating a) ..
  32. Genetics and Haloperidol Response
    Robert J Hitzemann; Fiscal Year: 2012
    ..The SNP data obtained in aim1 will be used to map these QTLs to a high resolution (1-2 megabase pairs [Mbp]), to confirm the QTL haplotype ..
  33. Translational Machinery in Stress Signaling and Tumor Suppression
    THOMAS J contact BEGLEY; Fiscal Year: 2010
    ..We propose the following specific aims: SPECIFIC AIM1. To determine the extent and mechanism by which TRM9 is down-regulated in tumors...
  34. IMMUNOGENETICS OF COLLAGEN INDUCED ARTHRITIS IN MICE
    Chella David; Fiscal Year: 2009
    ..In aim1, we will define the mechanism of predisposition by using mice expressing RA susceptible and resistant HLA class II ..
  35. Maria Diakonova; Fiscal Year: 2014
    ..b>Aim1 will determine the role of JAK2-phosphorylated PAK1 in regulating PRL-dependent actin cytoskeleton rearrangement, ..
  36. Small Molecule targeting of NADPH oxidase in neutrophils
    Marie Dominique Filippi; Fiscal Year: 2010
    ..in: A) in vitro protein-protein interaction studies, B) mouse neutrophil studies and C) human neutrophil studies (Aim1);test toxicity and pharmacokinetics in vivo and determine the efficacy of NSC23766 and phox-I in acute lung ..
  37. Tumor Microenvironment Interactions in Brain Tumors
    Eric C Holland; Fiscal Year: 2010
    ..b>Aim1). Our source of malignant cells is pleura! fluids of breast cancer patients undergoing treatment at MSKCC...
  38. Nuclear-Cytoplasmic Shuttling of Foxc2 via 14-3-3 Determines Proximal Tubule Cell
    DIANA LYNNE GOLDEN; Fiscal Year: 2012
    ..Specific aim1 determines how Foxc2 nuclear export promotes tubular cell repair by 14-3-3 and [unreadable]-actinin association...
  39. Role of Stat3 in Breast Cancer Tumorigenesis
    Jacqueline F Bromberg; Fiscal Year: 2010
    ..e., "wounds that never heal" and thereby promote de novo tumorogenesis(Aim1)...
  40. Lih Yun Hsu; Fiscal Year: 2016
    ..The specific aims testing this hypothesis are as follows: (AIM1) understand the properties and kinetics of the accumulation of autoreactive T cells into the inflamed joints, (AIM2)..
  41. Multiplexed DNA Origami-Based Biomarker Detection Assay for Early Dx of Arthritis
    John E Mueller; Fiscal Year: 2013
    ..Three aims are proposed: AIM1: Design and construct a DNA origami library for AR biomarker selections...
  42. Characterization of the thioredoxins system in the diabetic retina
    Folami Lamoke; Fiscal Year: 2013
    ..b>Aim1)) Test the hypothesis that HG/diabetes promotes PKC-dependent serine phosphorylation (SerP) of TXNIP and this ..
  43. NFATc3 in chronic hypoxic pulmonary hypertension
    Laura V Gonzalez Bosc; Fiscal Year: 2012
    ..We will use the same animal models proposed in aim1 and determine mRNA and protein Kv isoforms;NFATc3 binding to KV 1.5 and 2...
  44. The Role of Cks Proteins in Mammalian Meiosis
    Charles H Spruck; Fiscal Year: 2010
    ..Our hypothesis is that Cks2 performs analogous regulatory functions in mammalian Ml. Specific Aims: Aim1. Determine the role of Cks2 in regulating MPF and APC/C activity in Ml. Aim2...
  45. Joseph Avruch; Fiscal Year: 2016
    ..In AIM1, we propose to elucidate in detail the mechanism by which Rheb-GTP activates mTOR complex 1...
  46. Helene M Langevin; Fiscal Year: 2015
    ..12 pigs per group) all with PCT microinjury plus movement restriction for a duration determined by the results of Aim1, followed by 4 weeks without movement restriction during which pigs will be randomized to 1) passive stretching of ..
  47. Kishor K Bhakat; Fiscal Year: 2015
    ..This hypothesis will be tested in three specific aims. Aim1 will ask how APE1's acetylation affects its interaction with other proteins or DNA to modulate repair of ..
  48. Preoptic histamine signaling in thermoregulation and energy expenditure
    IUSTIN VIRGIL TABAREAN; Fiscal Year: 2012
    ..in slices and study the modulation of their activity by histamine and the ion conductances involved (Specific aim1)...
  49. Advanced Center for Latino and MH Systems Research
    Margarita Alegria; Fiscal Year: 2009
    ..survey to assess the potential sensitivity and specificity of the clinical determinations identified in Aim1 in detecting the underlying diagnosis...
  50. Resham Bhattacharya; Fiscal Year: 2016
    ..To address our hypothesis, we propose the following aims: Aim1: To determine the mechanism by which loss of Bmi-1 enhances drug-sensitivity...
  51. Bo Qiu; Fiscal Year: 2015
    ..Thus, my first hypothesis (AIM1) is that HIF-2[unreadable]-dependent mitophagy is required to maintain redox homeostasis and support tumor cell ..
  52. Cerebrospinal fluid proteome mediated signaling in the developing CNS
    Maria Lehtinen; Fiscal Year: 2011
    ..The experiments in Aim1 will use heterochronic explants and cultured stem cells to test the ability of CSF to support the survival, growth, ..
  53. Pilar Blancafort; Fiscal Year: 2015
    ..In Aim1 we propose the construction of 6ZF proteins linked to the Dnmt3a and inactive mutants, to assess whether these ..
  54. Maria Lehtinen; Fiscal Year: 2014
    ..The experiments in Aim1 will use heterochronic explants and cultured stem cells to test the ability of CSF to support the survival, growth, ..
  55. Alexey V Zaitsev; Fiscal Year: 2015
    ..Second, the selectivity filter, not the S6 bundle crossing, may function as the activation gate. In Aim1 we will use site-directed mutagenesis, heterologous expression in Xenopus oocytes and voltage clamp techniques to ..
  56. Shingo Kajimura; Fiscal Year: 2016
    ..To test this hypothesis, we will pursue the following specific aims: In Aim1, we will determine the genetic requirement of EHMT1 in the fate specification and maintenance of brown adipose ..
  57. Charles J Smith; Fiscal Year: 2014
    ..Three specific aims will address this central hypothesis. In specific aim1 we will elucidate the mechanisms that regulate the POST response, determine how it is controlled by stress stimuli, ..
  58. Masuko Ushio-Fukai; Fiscal Year: 2016
    ..b>Aim1 will focus on establishing a role of Atox1 in regulating NADPH oxidase and ROS-dependent inflammatory and ..
  59. Paul F Pilch; Fiscal Year: 2015
    ..We will test this hypothesis in Aim1 where mechanistic properties of Arx related to protein assembly and secretion will be investigated in co-..
  60. Chia Yang Liu; Fiscal Year: 2015
    ..KR/TC/R26fN1-ICD triple transgenic mouse as a novel animal model to study the pathogenesis of congenital BPES (Aim1)...
  61. Elliott D Kieff; Fiscal Year: 2016
    ..and 3) Determine the role of EBNALP in enhancer and promoter interactions. In AIM1, Novel genomic approaches will be used to identify enhancer and promoter DNA sites that are brought in proximity by ..
  62. Role of B cells in pathogenesis of Collagen-induced Arthritis in Humanized Mice
    Veena Taneja; Fiscal Year: 2012
    ..In aim1, we will define the requirement of B cells as antigen presenting cells in pathogenesis of CIA...
  63. Cytochrome P450-reductase interactions in P450 1A subfamily
    GRAZYNA SZKLARZ; Fiscal Year: 2007
    ..The members of the P450 1A subfamily, P450 1A1 and 1A2, are both considered important in carcinogenesis...
  64. A TRANSCRIPTIONAL PROGRAM REGULATING MYELOPOIESIS
    Alan Friedman; Fiscal Year: 2004
    ..PU.1 mRNA was rapidly induced by C/EBPa-ER, even in the presence of cycloheximide. Thus, the central hypothesis of aim1 is that C/EBPa activates the PU.1 gene in normal hematopoietic cells. Cis elements in the PU...
  65. TMS in the Management of Postoperative Pain
    Jeffrey J Borckardt; Fiscal Year: 2010
    ..Using rigorous double-masked methods and building on preliminary pilot work, we propose (Aim1) to test whether repetitive transcranial magnetic stimulation over the left prefrontal cortex significantly reduces ..
  66. The function of proteins associated with albinism
    MURRAY BRILLIANT; Fiscal Year: 2005
    ..The two proteins to be studied are encoded by the mouse genes pink-eyed dilution (p) and underwhite (uw) and are defined by several useful mutant alleles...
  67. Missing Mutations in Oculocutaneous and Ocular Albinism
    Richard Spritz; Fiscal Year: 2006
    ..OCA) involves the eyes, skin and hair, and is associated with mutations in four genes: TYR, OCA2, TYRP1, and MATP. Ocular albinism (OA) involves principally the eyes, and is associated with mutations in three genes: TYR, OCA2, ..