H19

Summary

Gene Symbol: H19
Description: H19, imprinted maternally expressed transcript (non-protein coding)
Alias: ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, PRO2605, WT2
Species: human

Top Publications

  1. ncbi IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 16:328-34. 2008
  2. ncbi Overexpression of an ectopic H19 gene enhances the tumorigenic properties of breast cancer cells
    Séverine Lottin
    Laboratoire de Biologie du Developpement, UPRES EA 1033, SN3, USTL, 59655 Villeneuve d Ascq cedex, France
    Carcinogenesis 23:1885-95. 2002
  3. ncbi Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction
    Silvia Tabano
    Department of Medicine, Surgery and Dentistry, Unit of Medical Genetics, Universita degli Studi di Milano, Milano, Italy
    Epigenetics 5:313-24. 2010
  4. doi The H19 gene imprinting in normal pregnancy and pre-eclampsia
    L Yu
    Department of Obstetrics and Gynecology, Research Institute of Surgery, Daping Hospital, Third Military Medical University, Chongqing, PR China
    Placenta 30:443-7. 2009
  5. doi Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
    Julie Demars
    Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, 3004 VIC, Australia
    Hum Mol Genet 19:803-14. 2010
  6. doi Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 17:1427-35. 2008
  7. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
  8. pmc Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
    Rebecca L Poole
    Faculty of Medicine, University of Southampton, Southampton, UK
    Eur J Hum Genet 20:240-3. 2012
  9. ncbi Frequent IGF2/H19 domain epigenetic alterations and elevated IGF2 expression in epithelial ovarian cancer
    Susan K Murphy
    Division of Gynecologic Oncology, Duke University Medical Center, Box 91012, Durham, NC 27708, USA
    Mol Cancer Res 4:283-92. 2006
  10. pmc Comparative genomic sequencing identifies novel tissue-specific enhancers and sequence elements for methylation-sensitive factors implicated in Igf2/H19 imprinting
    K Ishihara
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Graduate University for Advanced Studies, Mishima, Shizuoka 411 8540, Japan
    Genome Res 10:664-71. 2000

Research Grants

  1. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
  2. BRCA2 missense mutations and breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
  3. Genetic epidemiology of cell division regulation in breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
  4. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
  5. Genomics and Epigenomics of Fetal Growth Regulation
    Ronald M Adkins; Fiscal Year: 2010
  6. Maternal-Fetal Conflict: The Effect of Imprinted Genes on Fetal Growth
    Ronald M Adkins; Fiscal Year: 2010
  7. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
  8. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
  9. Imprinted PEG3 domain at 19q13.4 and carcinogenesis
    Susan Murphy; Fiscal Year: 2002
  10. Analysis of Ethnic Admixture in Lung Cancer
    Jill Barnholtz Sloan; Fiscal Year: 2006

Scientific Experts

Detail Information

Publications80

  1. ncbi IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia
    Michael Zeschnigk
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 16:328-34. 2008
    ..In 30% of patients, the differentially methylated IGF2/H19 imprinting center region (ICR1) on chromosome 11p15 was found to be hypomethylated, as determined by Southern blot ..
  2. ncbi Overexpression of an ectopic H19 gene enhances the tumorigenic properties of breast cancer cells
    Séverine Lottin
    Laboratoire de Biologie du Developpement, UPRES EA 1033, SN3, USTL, 59655 Villeneuve d Ascq cedex, France
    Carcinogenesis 23:1885-95. 2002
    The maternally expressed H19 gene is transcribed as an untranslated RNA that serves as a riboregulator. We have previously reported that this transcript accumulates in epithelial cells in approximately 10% of breast cancers...
  3. ncbi Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction
    Silvia Tabano
    Department of Medicine, Surgery and Dentistry, Unit of Medical Genetics, Universita degli Studi di Milano, Milano, Italy
    Epigenetics 5:313-24. 2010
    ..IGF2 and H19, belonging to the same cluster of imprinted genes and regulated by ICR1, DMR2 and H19 promoter elements, play a ..
  4. doi The H19 gene imprinting in normal pregnancy and pre-eclampsia
    L Yu
    Department of Obstetrics and Gynecology, Research Institute of Surgery, Daping Hospital, Third Military Medical University, Chongqing, PR China
    Placenta 30:443-7. 2009
    To characterize the H19 gene imprinting in the placental tissues of normal pregnancy and pre-eclampsia.
  5. doi Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
    Julie Demars
    Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, 3004 VIC, Australia
    Hum Mol Genet 19:803-14. 2010
    The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5...
  6. doi Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Mol Genet 17:1427-35. 2008
    The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator...
  7. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
    ..that five of the six have specific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19. We discuss the implications of our finding that ART is associated with human overgrowth, similar to the large ..
  8. pmc Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
    Rebecca L Poole
    Faculty of Medicine, University of Southampton, Southampton, UK
    Eur J Hum Genet 20:240-3. 2012
    The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5...
  9. ncbi Frequent IGF2/H19 domain epigenetic alterations and elevated IGF2 expression in epithelial ovarian cancer
    Susan K Murphy
    Division of Gynecologic Oncology, Duke University Medical Center, Box 91012, Durham, NC 27708, USA
    Mol Cancer Res 4:283-92. 2006
    ..The purpose of this study was to determine whether IGF2 loss of imprinting (LOI), aberrant H19 expression, and/or epigenetic deregulation of the IGF2/H19 imprinted domain contributes to elevated IGF2 expression ..
  10. pmc Comparative genomic sequencing identifies novel tissue-specific enhancers and sequence elements for methylation-sensitive factors implicated in Igf2/H19 imprinting
    K Ishihara
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Graduate University for Advanced Studies, Mishima, Shizuoka 411 8540, Japan
    Genome Res 10:664-71. 2000
    ..methylated region (DMR) and endoderm-specific enhancers, located upstream and downstream of the mouse H19 gene, respectively, are known to be essential for the reciprocal imprinting of Igf2 and H19...
  11. ncbi Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    Angela Sparago
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Nat Genet 36:958-60. 2004
    ..5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease...
  12. ncbi Examination of IGF2 and H19 loss of imprinting in bladder cancer
    Hyang Min Byun
    Division of Hematology, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90033, USA
    Cancer Res 67:10753-8. 2007
    ..We found 2/9 (22.2%) cases that displayed LOI of IGF2 and 2/16 (12.5%) that had LOI of H19, as determined by the evaluation of mRNA for biallelic expression...
  13. doi Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies
    Sara Bruce
    Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
    J Clin Endocrinol Metab 94:579-87. 2009
    The H19 imprinting control region (ICR), located on chromosome 11p15.5, has been reported hypomethylated in 20-65% of Silver-Russell syndrome (SRS) patients.
  14. doi Hypomethylated and hypermethylated profiles of H19DMR are associated with the aberrant imprinting of IGF2 and H19 in human hepatocellular carcinoma
    Jing Wu
    Department of Biochemistry and Molecular Biology, School of Preclinical and Forensic Medicine, West China Medical Center, Chengdu 610041, Sichuan Province, China
    Genomics 91:443-50. 2008
    ..carcinoma (HCC) tissues and 7 normal adult liver tissues were screened for heterozygous polymorphisms in IGF2, H19, and the differentially methylated region of H19 (H19DMR) using PCR-RFLP and PCR sequencing...
  15. pmc The prevalence of loss of imprinting of H19 and IGF2 at birth
    Rebecca C Rancourt
    Obstetrics and Gynecology Epidemiology Center, Brigham and Women s Hospital, Harvard Medical School, 221 Longwood Ave, Boston, MA 02115, USA
    FASEB J 27:3335-43. 2013
    ..We examined the prevalence of H19 and IGF2 LOI at birth by allele-specific expression assays analysis on 114 human individuals...
  16. doi H19 inhibits RNA polymerase II-mediated transcription by disrupting the hnRNP U-actin complex
    Hai Shan Bi
    Department of Medical Genetics, Second Military Medical University, Shanghai, China
    Biochim Biophys Acta 1830:4899-906. 2013
    b>H19 was one of the earliest identified, and is the most studied, long noncoding RNAs. It is presumed that H19 is essential for regulating development and disease conditions, and it is associated with carcinogenesis for many types...
  17. pmc The imprinted H19 lncRNA antagonizes let-7 microRNAs
    Amanda N Kallen
    Department of Obstetrics, Gynecology and Reproductive Sciences, Yale Stem Cell Center, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Cell 52:101-12. 2013
    Abundantly expressed in fetal tissues and adult muscle, the developmentally regulated H19 long noncoding RNA (lncRNA) has been implicated in human genetic disorders and cancer...
  18. ncbi Circulating long non-coding RNAs in plasma of patients with gastric cancer
    Tomohiro Arita
    Division of Digestive Surgery, Department of Surgery, Kyoto Prefectural University of Medicine, 465 Kajii cho, Kamigyo ku, Kyoto 6028566, Japan
    Anticancer Res 33:3185-93. 2013
    ..We examined the levels of long non-coding RNAs (lncRNAs) in the plasma of patients with gastric cancer to assess their clinical significance for diseases diagnosing and monitoring...
  19. pmc IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance
    Rinki Murphy
    Faculty of Medical and Health Sciences, University of Auckland, Auckland, Private Bag 92019, New Zealand
    BMC Med Genet 13:42. 2012
    ....
  20. doi The imprinted H19 gene regulates human placental trophoblast cell proliferation via encoding miR-675 that targets Nodal Modulator 1 (NOMO1)
    Wen Long Gao
    State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China
    RNA Biol 9:1002-10. 2012
    ..placentas exhibited decreased mRNA expression and hypermethylation in promoter region of the paternally imprinted H19 gene compared with normal placentas...
  21. pmc Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes
    Samira Ibala-Romdhane
    Inserm U846, Institut Cellule Souche et Cerveau, 18 av Doyen Lépine, Bron, France
    Eur J Hum Genet 19:1138-43. 2011
    ..The matching sperm at the origin of the embryos exhibited normal methylated H19 patterns...
  22. doi Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception
    Hai Yan Zheng
    Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, People s Republic of China
    Hum Reprod 28:265-73. 2013
    ..Do assisted reproduction techniques (ARTs) affect DNA methylation of imprinted genes and does aberrant methylation of imprinted genes account for the incidence of human spontaneous abortion (SA)?..
  23. pmc The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    Jasmin Beygo
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Hum Mol Genet 22:544-57. 2013
    ..5, the imprinting centre 1 (IC1) controls the parent of origin-specific expression of the IGF2 and H19 genes...
  24. pmc Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction
    Benedetta Izzi
    Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
    PLoS ONE 7:e38579. 2012
    ..Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations...
  25. pmc Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine
    Katherine Marie Robbins
    Division of Animal Sciences, University of Missouri, Columbia, MO, USA
    J Biomed Sci 19:95. 2012
    ..5, namely the KvDMR1 and H19/IGF2. A similar overgrowth phenotype is observed in bovine and ovine as a result of embryo culture...
  26. pmc Quantitative allele-specific expression and DNA methylation analysis of H19, IGF2 and IGF2R in the human placenta across gestation reveals H19 imprinting plasticity
    Sam Buckberry
    The Robinson Institute, Research Centre for Reproductive Health, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, South Australia, Australia
    PLoS ONE 7:e51210. 2012
    ..In humans, H19 and IGF2 are imprinted, but imprinting of IGF2R remains controversial...
  27. doi Placentas from pregnancies conceived by IVF/ICSI have a reduced DNA methylation level at the H19 and MEST differentially methylated regions
    Ewka C M Nelissen
    Department of Obstetrics and Gynaecology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands
    Hum Reprod 28:1117-26. 2013
    ..Does IVF/ICSI have an effect on the epigenetic regulation of the human placenta?..
  28. pmc Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight
    Ruth Pidsley
    Institute of Psychiatry, King s College London, London, UK
    Epigenetics 7:155-63. 2012
    ..of IGF2 is regulated by DNA methylation at three differentially methylated regions (DMRs) spanning the IGF2/H19 domain on human 11p15.5...
  29. doi Upregulated H19 contributes to bladder cancer cell proliferation by regulating ID2 expression
    Ming Luo
    Department of Urology, Affiliated Tenth People s Hospital, Tongji University, Shanghai, China
    FEBS J 280:1709-16. 2013
    Long noncoding RNAs have been shown to have important regulatory roles in cancer biology, and long noncoding RNA 19 (H19) is essential for human tumor growth...
  30. doi Common genetic variants associated with breast cancer and mammographic density measures that predict disease
    Fabrice Odefrey
    Department of Pathology and Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, University of Melbourne, Melbourne 3053, Australia
    Cancer Res 70:1449-58. 2010
    ..05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05)...
  31. pmc Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
    Claire Louise Susan Turner
    Academic Unit of Genetic Medicine, School of Medicine, University of Southampton, Princess Anne Hospital, Southampton, UK
    Eur J Hum Genet 18:648-55. 2010
    ..status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB10, KCNQ1OT1, H19, IGF2P0, DLK1, PEG3, NESPAS)...
  32. doi Hypomethylation along with increased H19 expression in placentas from pregnancies complicated with fetal growth restriction
    O Koukoura
    Department of Obstetrics and Gynaecology, University Hospital of Heraklion, Crete Greece
    Placenta 32:51-7. 2011
    ..The H19 gene is abundantly expressed by the human placenta and is implicated in the pathogenesis of congenital growth ..
  33. doi Investigation of IGF2/ApaI and H19/RsaI polymorphisms in patients with cutaneous melanoma
    M R Soares
    Department of Gynecology and Obstetrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil
    Growth Horm IGF Res 20:295-7. 2010
    ..The aim of our study was to verify if single polymorphic sites within IGF2 and H19 genes and their consequent haplotypes influence risk and/or prognosis of familial melanoma.
  34. pmc FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women
    Jill S Barnholtz-Sloan
    Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH 44106 5065, USA
    Carcinogenesis 31:1417-23. 2010
    ..17-1.81]. Associations were observed for SNPs in FGFR2, LSP1, H19, TLR1/TLR6 and RELN for AA; FGFR2, TNRC9, H19 and MAP3K1 for Whites; FGFR2, TNRC9, Msc5A1 and chromosome 8q for ..
  35. pmc Association of birth weight with polymorphisms in the IGF2, H19, and IGF2R genes
    Ronald M Adkins
    Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee 38103, USA
    Pediatr Res 68:429-34. 2010
    ..We tested 18 single nucleotide polymorphisms (SNPs) in the IGF2, H19, and IGF2R genes for associations with birth weight variation in 342 mother-newborn pairs (birth weight 2.1-4...
  36. pmc The product of the H19 gene may function as an RNA
    C I Brannan
    Howard Hughes Medical Institute, Princeton University New Jersey 08544
    Mol Cell Biol 10:28-36. 1990
    The mouse H19 gene was identified as an abundant hepatic fetal-specific mRNA under the transcriptional control of a trans-acting locus termed raf...
  37. pmc Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technology
    Nahid Turan
    Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, Pennsylvania, United States of America
    PLoS Genet 6:e1001033. 2010
    ..and inter-individual variation in DNA methylation at the differentially methylated regions (DMRs) of the IGF2/H19 and IGF2R loci in a population of children conceived in vitro or in vivo...
  38. pmc Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome
    Raffaella Nativio
    Department of Oncology, Cancer Research UK Cambridge Research Institute, University of Cambridge, LiKaShing Centre, Cambridge, UK
    Hum Mol Genet 20:1363-74. 2011
    Hyper- and hypomethylation at the IGF2-H19 imprinting control region (ICR) result in reciprocal changes in IGF2-H19 expression and the two contrasting growth disorders, Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS)...
  39. doi Vitrification at the germinal vesicle stage does not affect the methylation profile of H19 and KCNQ1OT1 imprinting centers in human oocytes subsequently matured in vitro
    Mohamed Al-Khtib
    INSERM, Institut Cellule Souche et Cerveau, Bron, France
    Fertil Steril 95:1955-60. 2011
    ..To evaluate the integrity of genomic imprinting in oocytes vitrified at the germinal vesicle (GV) stage and in vitro matured (IVM) after thawing...
  40. doi Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia
    Maria Sandbacka
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63, FIN 00014 University of Helsinki, Helsinki, Finland
    Fertil Steril 95:2703-6. 2011
    Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian ..
  41. doi Detection of global DNA methylation and paternally imprinted H19 gene methylation in preeclamptic placentas
    Wen Long Gao
    State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China
    Hypertens Res 34:655-61. 2011
    ..In the present study, we investigated global DNA methylation as well as DNA methylation of the paternally imprinted H19 gene in preeclamptic placentas...
  42. doi Expression of the imprinted IGF2 and H19 genes in the endometrium of cases with unexplained infertility
    Umit Korucuoglu
    Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, 06500 Besevler, Ankara, Turkey
    Eur J Obstet Gynecol Reprod Biol 149:77-81. 2010
    ..imprinting plays a critical role in the development of the placenta, the aim of this study was to detect whether the expression levels of the imprinted genes IGF2 and H19 in the endometrium differ between infertile and fertile women.
  43. ncbi Frequent aberrant methylation of the imprinted IGF2/H19 locus and LINE1 hypomethylation in ovarian carcinoma
    Reinhard H Dammann
    Institute for Genetics, Justus Liebig University Giessen, Heinrich Buff Ring 58 62, D 35392, Giessen, Germany
    Int J Oncol 36:171-9. 2010
    ..analyzed the aberrant methylation of a differentially methylated region (DMR0) and a CTCF binding site of the IGF2-H19 locus and methylation of LINE1 and Satellite 2 in 22 primary ovarian carcinomas (OC) and controls by a quantitative ..
  44. ncbi [The aberrant imprinting of insulin-like growth factor II and H19 in human hepatocellular carcinoma]
    Jing Wu
    Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, China
    Sichuan Da Xue Xue Bao Yi Xue Ban 38:49-52. 2007
    To investigate the allelic expression of IGF2/H19 in human hepatocellular carcinoma and to analyze the relationship between the imprint status of IGF2 and that of H19.
  45. ncbi Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome
    Jin Yeong Han
    Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Seo Gu, Busan, 602 715 Korea
    J Hum Genet 51:641-3. 2006
    ..5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active.
  46. ncbi Genetic imprinting during impaired spermatogenesis
    Sonja Hartmann
    Department of Urology and Pediatric Urology, Institute of Veterinary Anatomy, Histology and Embryology and Institute of Pathology, University of Giessen, Giessen Germany
    Mol Hum Reprod 12:407-11. 2006
    ..in disruptive spermatogenesis is available, we analysed the imprinting state of the paternally methylated gene H19 in various germ cell populations derived from seminiferous tubules exhibiting impaired spermatogenesis...
  47. pmc Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans
    Clive J Petry
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital Level 8, Box 116, Cambridge CB2 2QQ, UK
    BMC Genet 6:22. 2005
    ..We identified ten single nucleotide polymorphisms (SNPs) in H19, and we genotyped three of these SNPs in families from the contemporary ALSPAC UK birth cohort (1,696 children, 822 ..
  48. ncbi Down-regulation of the IGF-2/H19 locus during normal and malignant hematopoiesis is independent of the imprinting pattern
    Mathewos Tessema
    Institute of Pathology, Medizinische Hochschule Hannover, D 30625 Hannover, Germany
    Int J Oncol 26:499-507. 2005
    b>H19 and IGF-2 are two growth regulatory genes located on chromosome 11p15 implicated in tumorigenesis. Both genes are imprinted and regulated reciprocally under many circumstances...
  49. ncbi Genomic imprinting in disruptive spermatogenesis
    Cristina Joana Marques
    Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal
    Lancet 363:1700-2. 2004
    ..However, methylation of the H19 gene did not change in any of 27 normozoospermic individuals (0%, 95% CI 0-13%), compared with methylation changes ..
  50. ncbi Reduced expression of H19 in bone marrow cells from chronic myeloproliferative disorders
    Oliver Bock
    Leukemia 17:815-6. 2003
  51. ncbi Relaxation of imprinting of IGFII gene in juvenile nasopharyngeal angiofibromas
    Cláudia M Coutinho-Camillo
    Disciplina de Oncologia, Departmento de Radiologia da Faculdad de Medicina da Universidade de São Paulo
    Diagn Mol Pathol 12:57-62. 2003
    IGFII and H19 genes are expressed only from one allele due to genomic imprinting, biallelic expression (loss of imprinting) being associated with the tumorigenic process of different types of tumors...
  52. pmc Multiple nucleosome positioning sites regulate the CTCF-mediated insulator function of the H19 imprinting control region
    Meena Kanduri
    Department of Development and Genetics, Evolution Biology Centre, Uppsala University, S 752 36 Uppsala, Sweden
    Mol Cell Biol 22:3339-44. 2002
    The 5' region of the H19 gene harbors a methylation-sensitive chromatin insulator within an imprinting control region (ICR)...
  53. ncbi Association of H19 promoter methylation with the expression of H19 and IGF-II genes in adrenocortical tumors
    Zhi He Gao
    Department of Pathology, University of Helsinki, FIN 00014 Helsinki, Finland
    J Clin Endocrinol Metab 87:1170-6. 2002
    Low H19 and abundant IGF-II expression may have a role in the development of adrenocortical carcinomas...
  54. pmc Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, USA
    Am J Hum Genet 70:604-11. 2002
    ..The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15...
  55. ncbi Sequence of a 42-kb mouse region containing the imprinted H19 locus: identification of a novel muscle-specific transcription unit showing biallelic expression
    K Ishihara
    Division of Disease Genes, Institute of Genetic Information, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Mamm Genome 9:775-7. 1998
  56. ncbi Relaxation of imprinted genes in human cancer
    S Rainier
    Howard Hughes Medical Institute, University of Michigan Medical School, Ann Arbor 48109
    Nature 362:747-9. 1993
    ..Two genes in this band, H19 and insulin-like growth factor-II (IGF2) undergo reciprocal imprinting in the mouse, with maternal expression of ..
  57. ncbi A fine-structure deletion map of human chromosome 11p: analysis of J1 series hybrids
    T Glaser
    Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139
    Somat Cell Mol Genet 15:477-501. 1989
    ..Our findings suggest the following gene order: TEL - (HRAS1, MER2, CTSD, TH/INS/IGF2, H19, D11S32) - (RRM1, D11S1, D11S25, D11S26) - D11S12 - (HBBC, D11S30) - D11S20 - (PTH, CALC) - (LDHA, SAA, TRPH, ..
  58. pmc The H19 non-coding RNA is essential for human tumor growth
    Imad J Matouk
    Department of Biological Chemistry, Institute of Life Sciences, Hebrew University, Jerusalem, Israel
    PLoS ONE 2:e845. 2007
    ..Recent studies reveal that non-coding RNAs are controllers of gene expression. H19 is an imprinted gene that demonstrates maternal monoallelic expression without a protein product; although its ..
  59. doi Polymorphisms in the H19 gene and the risk of bladder cancer
    Gerald W Verhaegh
    Department of Urology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur Urol 54:1118-26. 2008
    b>H19 is an imprinted gene coding for an oncofetal RNA that is down-regulated postnatally. Reactivation of the H19 gene has been observed in bladder tumors, and H19 expression has been associated with early recurrence of disease...
  60. doi Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes
    Sasa Ostojic
    Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Brace Branchetta 20, Rijeka, Croatia
    Am J Reprod Immunol 60:111-7. 2008
    ..IGF-2 stimulates trophoblast invasion, proliferation and maturation of placenta, while H19 RNA suppresses growth...
  61. pmc Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus
    Raffaella Nativio
    Department of Oncology, University of Cambridge, Cancer Research UK Cambridge Research Institute, Cambridge, United Kingdom
    PLoS Genet 5:e1000739. 2009
    ..At the imprinted IGF2-H19 locus, CTCF plays an important role in organizing allele-specific higher-order chromatin conformation and functions ..
  62. ncbi [VIGILIN involves in regulation of imprinting gene IGF2 and H19 in human hepatocellular carcinoma cell]
    Ya jun Ge
    Department of Biochemistry and Molecular Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China
    Sichuan Da Xue Xue Bao Yi Xue Ban 40:770-4. 2009
    To explore possible relationship among expression of human high density lipoprotein binding protein(VIGILIN), H19 and the insulin-like growth factor 2 (IGF2) mRNA in HepG2 cell cycle and investigate the role of VIGILIN in controlling ..
  63. doi Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome
    Shin ichi Horike
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 149:2415-23. 2009
    ..Of interest, in 3 of these 11 patients, the epigenetic alterations were limited to the H19 promoter and the distal region of its associated imprinting center, ICR1...
  64. pmc Association of breast cancer susceptibility variants with risk of pancreatic cancer
    Fergus J Couch
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Cancer Epidemiol Biomarkers Prev 18:3044-8. 2009
    ..Recently, several breast cancer susceptibility loci have been identified through genome-wide association studies. Here we evaluated possible associations between these single nucleotide polymorphisms (SNP) and pancreatic cancer risk...
  65. doi Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells
    Marjorie Pick
    Stem Cell Unit, Department of Genetics, The Hebrew University, Edmund Safra Campus Givat Ram, Jerusalem 91904, Israel
    Stem Cells 27:2686-90. 2009
    ..However, we found biallelic expression of the H19 gene in one iPS cell line and biallelic expression of the KCNQ10T1 gene in another iPS cell line...
  66. ncbi [H19 expression in placenta with pre-eclampsia]
    Dan Zhao
    Department of Obestetrics and Gynecology, Daping Hospital, The Third Military Medical University, Chongqing 400042, China
    Zhonghua Fu Chan Ke Za Zhi 44:87-90. 2009
    To explore the role of H19 imprinting in etiology of pre-eclampsia.
  67. ncbi Aberrant epigenetic modifications in the CTCF binding domain of the IGF2/H19 gene in prostate cancer compared with benign prostate hyperplasia
    Agnieszka Paradowska
    Department of Urology and Pediatric Urology, Justus Liebig University, 35385 Giessen, Germany
    Int J Oncol 35:87-96. 2009
    Expression of the imprinted genes insulin-like growth factor 2 (IGF2) and H19 depends on the methylation pattern of their common imprinting control region (ICR) located on chromosome 11p15...
  68. ncbi Homocysteine harasses the imprinting expression of IGF2 and H19 by demethylation of differentially methylated region between IGF2/H19 genes
    Lijuan Li
    Department of Pathophysiology, West China School of Preclinic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu 610041, China
    Acta Biochim Biophys Sin (Shanghai) 41:464-71. 2009
    ..Insulinlike growth factor 2 (IGF2) and H19 are two important regulating molecules of cell proliferation...
  69. doi Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
    Kazuki Yamazawa
    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, 157 8535, Japan
    J Hum Genet 53:950-5. 2008
    ..by growth failure and dysmorphic features, and is frequently caused by hypomethylation of the paternally derived H19-DMR (epimutation). We observed 5 8/12-year-old female twins discordant for SRS...
  70. pmc Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists
    Parveen Bhatti
    Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD 20892 7238, USA
    Cancer Epidemiol Biomarkers Prev 17:2007-11. 2008
    ..found that the genotype-associated breast cancer risk varied significantly by radiation dose for rs2107425 in the H19 gene (P(interaction) = 0.001)...
  71. pmc CTCFL/BORIS is a methylation-independent DNA-binding protein that preferentially binds to the paternal H19 differentially methylated region
    Phuongmai Nguyen
    Radiation Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA
    Cancer Res 68:5546-51. 2008
    ..the maternal or paternal human chromosome 11 showed that BORIS preferentially binds to the methylated paternal H19 differentially methylated region, suggesting a mechanism in which the affinity of CTCF for the unmethylated ..
  72. doi Constitutional H19 hypermethylation in a patient with isolated cardiac tumor
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:2126-9. 2008
    ..Molecular findings characteristic of BWS have been reported in individuals with no or few associated features. We report on a child with isolated cardiac tumor and a constitutional H19 hypermethylation with none of the features of BWS.
  73. doi Loss of imprinting of IGF2 and H19, loss of heterozygosity of IGF2R and CTCF, and Helicobacter pylori infection in laryngeal squamous cell carcinoma
    Ivana Grbesa
    Laboratory of Molecular Pathology, Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia
    J Mol Med (Berl) 86:1057-66. 2008
    Imprinting analyses of IGF2 and H19, loss of heterozygosity (LOH) analyses of IGF2R and CTCF and Helicobacter pylori detection, were performed on 35 human laryngeal squamous cell carcinomas (LSCC)...
  74. ncbi The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15
    M P Leibovitch
    Laboratoire de Cytogénétique et de Génétique Oncologiques, UA 1158 CNRS, Institut Gustave Roussy, Villejuif, France
    Biochem Biophys Res Commun 180:1241-50. 1991
    ..Among several positive clones the longest EcoRI-EcoRI insert (ASM1) obtained was 1875 bp long with 72% homology with rat Asm15 cDNA sequence...

Research Grants23

  1. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  2. BRCA2 missense mutations and breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  3. Genetic epidemiology of cell division regulation in breast cancer
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..
  4. A genome-wide association study for breast cancer in BRCA1 mutation carriers
    FERGUS JOSEPH COUCH; Fiscal Year: 2010
    ..The modifiers may also lead to development of improved risk assessment models that better discriminate between high and lower risk BRCA1 mutation carriers. ..
  5. Genomics and Epigenomics of Fetal Growth Regulation
    Ronald M Adkins; Fiscal Year: 2010
    ..Statistical analyses will be performed to test the three hypotheses. Note: The only change from the original abstract is a change from 1,000 to 800 mothernewborn pairs. ..
  6. Maternal-Fetal Conflict: The Effect of Imprinted Genes on Fetal Growth
    Ronald M Adkins; Fiscal Year: 2010
    ..Dietary survey instruments during pregnancy and just afterwards will be used to determine the maternal intake of nutrients vital to DNA methylation. Statistical analyses will be performed to test the three hypotheses. ..
  7. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  8. P21 INDUCTION BY BRCA2
    Fergus Couch; Fiscal Year: 2002
    ....
  9. Imprinted PEG3 domain at 19q13.4 and carcinogenesis
    Susan Murphy; Fiscal Year: 2002
    ..These studies will help clarify the role of the human PEG3 isoforms in the control of cellular growth, and may further contribute potential diagnostic and therapeutic targets for ovarian cancer. ..
  10. Analysis of Ethnic Admixture in Lung Cancer
    Jill Barnholtz Sloan; Fiscal Year: 2006
    ..These projects will give me experience in developing methodology in statistical genetics and genetic epidemiology, while also helping me to better understand etiology of disease. ..
  11. Characterization of the Chromosome 17q23 Amplicon
    Fergus Couch; Fiscal Year: 2006
    ..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
  12. BRCA2 missense mutations and breast cancer
    Fergus Couch; Fiscal Year: 2007
    ..study the cancer relevance of many missense mutations will have been determined and provided to the carriers who will then be able to benefit from improved cancer risk assessment, cancer prevention and perhaps even therapeutic strategies ..
  13. Genetic epidemiology of cell division regulation in breast cancer
    Fergus Couch; Fiscal Year: 2009
    ..The results will provide information for improved risk assessment and could provide targets for breast cancer prevention and therapeutic agents. ..