Dct

Summary

Gene Symbol: Dct
Description: dopachrome tautomerase
Alias: TRP-2, TRP2, Tyrp-2, Tyrp2, slaty, slt, L-dopachrome Delta-isomerase, L-dopachrome tautomerase, SLATY locus protein, tyrosinase-related protein 2, tyrosinase-related protein-2
Species: mouse

Top Publications

  1. ncbi Functional properties of cloned melanogenic proteins
    V J Hearing
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
    Pigment Cell Res 5:264-70. 1992
  2. ncbi Comparative analysis of melanins and melanosomes produced by various coat color mutants
    G Prota
    Department of Organic and Biological Chemistry, University of Naples, Italy
    Pigment Cell Res 8:153-63. 1995
  3. ncbi The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites
    P Soriano
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Development 124:2691-700. 1997
  4. ncbi TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells
    B R Wong
    The Rockefeller University, New York, New York 10021, USA
    J Biol Chem 272:25190-4. 1997
  5. ncbi The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye
    S J Orlow
    The Ronald O Perelman Department of Dermatology and the Department of Cell Biology, NYU School of Medicine, 560 First Avenue, New York, NY, 10016, USA
    Exp Eye Res 68:147-54. 1999
  6. ncbi Transdifferentiation of the ventral retinal pigmented epithelium to neural retina in the growth arrest specific gene 1 mutant
    C S Lee
    Department of Embryology, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, Maryland 21210, USA
    Dev Biol 236:17-29. 2001
  7. doi Deafness in mice lacking the T-box transcription factor Tbx18 in otic fibrocytes
    Mark Oliver Trowe
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Development 135:1725-34. 2008
  8. ncbi Expression of Cre recombinase in pigment cells
    Laurence Guyonneau
    ISREC Swiss Institute for Experimental Cancer Research, Chemin des Boveresses 155, CH 1066 Epalinges, Switzerland
    Pigment Cell Res 15:305-9. 2002
  9. pmc Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
    Alexander C Theos
    Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust, Cambridge CB2 2XY, United Kingdom
    Mol Biol Cell 16:5356-72. 2005
  10. ncbi Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase
    S B Potterf
    Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Dev Biol 237:245-57. 2001

Scientific Experts

  • T Kunisada
  • T Hirobe
  • Satomi Torikai-Nishikawa
  • Christopher J Vavricka
  • Emi K Nishimura
  • Abdelhak Belmadani
  • Tom Van de Putte
  • MICHAEL GARY ANDERSON
  • Stacie K Loftus
  • Daniel Choo
  • Gabriela Negroiu
  • Bernhard Wehrle-Haller
  • G Barsh
  • PHILIPPE M SORIANO
  • Raymond Romand
  • Mark Oliver Trowe
  • William J Pavan
  • Shin ichi Nishikawa
  • Laurence Guyonneau
  • Zhongxian Jiao
  • Chiung Ying Chang
  • Annalisa Buniello
  • Friedrich Beermann
  • Pooja Agarwal
  • Laura L Baxter
  • Satomi Nishikawa-Torikai
  • Marie Manceau
  • Rolf W Stottmann
  • Shintaro Tanimura
  • Hannes Maier
  • Michaela Schweizer
  • Masatake Osawa
  • Andreas Kispert
  • Carmen Birchmeier
  • Kristina Buac
  • Igor Adameyko
  • Mark D Levin
  • Katja S Grossmann
  • S J Orlow
  • C Claus Stolt
  • Mariko Moriyama
  • Flavia Carneiro Brito
  • Cecele J Denman
  • T Kobayashi
  • Kazumasa Wakamatsu
  • W J Pavan
  • Yasuhiro Takashima
  • V J Hearing
  • I J Jackson
  • Ramin Mollaaghababa Hakami
  • Thomas J Hornyak
  • Alexander C Theos
  • Stina H Mui
  • Hae Young Lee
  • Jessica L Lanning
  • Ryuichi Yamada
  • Quianna Burton
  • Arlo J Miller
  • M L Lamoreux
  • E M Southard-Smith
  • L Kos
  • Lan Ying Wu
  • Cherie Rao
  • H Arnheiter
  • Michele Merves
  • H S Sun
  • Anita Rossier
  • Gertrude E Costin
  • Rachel E Hardisty-Hughes
  • A Nakayama
  • Geraldine Guasch
  • Elaine Fuchs
  • Olivier Elemento
  • Johanna C Pass
  • Karen P Steel
  • Richard M Gronostajski
  • H Amalia Pasolli
  • Eva Bober
  • Richard J Smith
  • Eugenia G Giannopoulou
  • C S Lee
  • E Camp
  • Y Hui
  • S B Potterf
  • S Britsch
  • K Opdecamp
  • Yoshio Tanaka
  • Jianxin Hu
  • Hiromitsu Nakauchi
  • Nguyen Thanh Binh

Detail Information

Publications92

  1. ncbi Functional properties of cloned melanogenic proteins
    V J Hearing
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
    Pigment Cell Res 5:264-70. 1992
    ..They map to the albino, brown, and slaty loci in mice, and encode proteins with similar structures and features, but with distinct catalytic capacities...
  2. ncbi Comparative analysis of melanins and melanosomes produced by various coat color mutants
    G Prota
    Department of Organic and Biological Chemistry, University of Naples, Italy
    Pigment Cell Res 8:153-63. 1995
    ..A good correlation was found for expression of (and enzyme activities associated with) TRP1 and TRP2 with eumelanin synthesis and eumelanosome production.
  3. ncbi The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites
    P Soriano
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Development 124:2691-700. 1997
    ..These results indicate that PDGFs may exert their functions during early embryogenesis by affecting cell survival and patterning...
  4. ncbi TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells
    B R Wong
    The Rockefeller University, New York, New York 10021, USA
    J Biol Chem 272:25190-4. 1997
    ..These results suggest a role for this TNF-related ligand in the regulation of the T cell-dependent immune response...
  5. ncbi The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye
    S J Orlow
    The Ronald O Perelman Department of Dermatology and the Department of Cell Biology, NYU School of Medicine, 560 First Avenue, New York, NY, 10016, USA
    Exp Eye Res 68:147-54. 1999
    ..Our results demonstrate that mutations at the p locus affect the size, number, shape and contents of melanosomes, implicating the p gene product in the normal biogenesis of this organelle...
  6. ncbi Transdifferentiation of the ventral retinal pigmented epithelium to neural retina in the growth arrest specific gene 1 mutant
    C S Lee
    Department of Embryology, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, Maryland 21210, USA
    Dev Biol 236:17-29. 2001
    ..This defect is specific to the ventral region of the RPE. Using molecular markers for RPE (Mi and Tyrp2) and NR (Math5), we demonstrate that there is a gradual loss of Mi and Tyrp2 expression and an appearance of Math5 ..
  7. doi Deafness in mice lacking the T-box transcription factor Tbx18 in otic fibrocytes
    Mark Oliver Trowe
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Development 135:1725-34. 2008
    ....
  8. ncbi Expression of Cre recombinase in pigment cells
    Laurence Guyonneau
    ISREC Swiss Institute for Experimental Cancer Research, Chemin des Boveresses 155, CH 1066 Epalinges, Switzerland
    Pigment Cell Res 15:305-9. 2002
    ..A construct was generated where Cre recombinase is controlled by the promoter of the mouse dopachrome tautomerase (Dct) gene. The construct was functionally tested in vitro and introduced into mice...
  9. pmc Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
    Alexander C Theos
    Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust, Cambridge CB2 2XY, United Kingdom
    Mol Biol Cell 16:5356-72. 2005
    ....
  10. ncbi Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase
    S B Potterf
    Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Dev Biol 237:245-57. 2001
    ..for the Sox10(Dom) mutation entirely lack neural crest-derived cells expressing the lineage marker KIT, MITF, or DCT. Moreover, neural crest cell cultures derived from homozygous embryos do not give rise to pigmented cells...
  11. ncbi Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles
    P S Budd
    Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Genomics 29:35-43. 1995
    ..regions of the mouse tyrosinase-related protein-2 (dopachrome tautomerase) gene (Tyrp2/Dct), which is mutated in slaty mice...
  12. pmc Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes
    W J Pavan
    Department of Molecular Biology, Princeton University, NJ 08544 1014
    Proc Natl Acad Sci U S A 91:7159-63. 1994
    ..The non-uniform distribution of melanoblasts in wild-type mice suggests that piebald acts stochastically to affect melanocyte development...
  13. ncbi Otx1 and Otx2 activities are required for the normal development of the mouse inner ear
    H Morsli
    National Institute on Deafness and Other Communication Disorders, Rockville, MD 20850, USA
    Development 126:2335-43. 1999
    ..These results suggest that both Otx genes play important and differing roles in the morphogenesis of the mouse inner ear and the development of its sensory organs...
  14. ncbi Tyrosinase-related protein 2 promoter targets transgene expression to ocular and neural crest-derived tissues
    S Zhao
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas, 77030, USA
    Dev Biol 216:154-63. 1999
    ..we generated transgenic mice carrying the lacZ reporter gene linked to the tyrosinase-related protein 2 (TRP2) promoter...
  15. ncbi TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor
    K P Steel
    MRC Institute of Hearing Research, University Park, Nottingham, UK
    Development 115:1111-9. 1992
    ....
  16. pmc The transcription factor Sox10 is a key regulator of peripheral glial development
    S Britsch
    Max Delbruck Center for Molecular Medicine, D 13122 Berlin, Germany
    Genes Dev 15:66-78. 2001
    ..Haploinsufficiency of Sox10 can thus cause pigmentation and megacolon defects, which are also observed in Sox10(Dom)/+ mice and in patients with Waardenburg-Hirschsprung disease caused by heterozygous SOX10 mutations...
  17. ncbi Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    E M Southard-Smith
    Mouse Embryology Section, Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Nat Genet 18:60-4. 1998
    ..Our studies suggest that Sox10 is essential for proper peripheral nervous system development. We propose SOX10 as a candidate disease gene for individuals with HSCR whose disease does not have an identified genetic origin...
  18. pmc The tyrosine phosphatase Shp2 (PTPN11) directs Neuregulin-1/ErbB signaling throughout Schwann cell development
    Katja S Grossmann
    Neuroscience Department, Department of Cancer Research, Department of Cardiovascular Research, Max Delbrück Centrum for Molecular Medicine, Robert Rossle Strasse 10, Berlin, Germany
    Proc Natl Acad Sci U S A 106:16704-9. 2009
    ..Together, our genetic and biochemical analyses demonstrate that Shp2 is an essential component in the transduction of Nrg1/ErbB signals...
  19. ncbi Altered melanocyte differentiation and retinal pigmented epithelium transdifferentiation induced by Mash1 expression in pigment cell precursors
    Jessica L Lanning
    Department of Dermatology, Henry Ford Health System, Detroit, Michigan, USA
    J Invest Dermatol 125:805-17. 2005
    ..factor Mash1 was expressed early in pigment cell development in transgenic mice from the dopachrome tautomerase (Dct) promoter. Dct:Mash1 transgenic founders exhibit variable microphthalmia and patchy coat color hypopigmentation...
  20. pmc A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase
    K Tsukamoto
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
    EMBO J 11:519-26. 1992
    ..We now report that TRP-2 (tyrosinase related protein-2), which maps to and is mutated at the slaty locus in mice, encodes a protein with DOPAchrome tautomerase activity.
  21. pmc Expression of aquaporin 1 and 5 in the developing mouse inner ear and audiovestibular assessment of an Aqp5 null mutant
    Michele Merves
    Department of Pediatric Otolaryngology, Center for Hearing and Deafness Research, Cincinnati, OH 45229, USA
    J Assoc Res Otolaryngol 4:264-75. 2003
    ..These results suggest redundant or alternative mechanisms that likely regulate water homeostasis in the developing and mature inner ear...
  22. ncbi Tyrosinase-related protein-2 and -1 are trafficked on distinct routes in B16 melanoma cells
    Gabriela Negroiu
    Institute of Biochemistry of the Romanian Academy, Splaiul Independentei 296, 060031 Bucharest 17, Romania
    Biochem Biophys Res Commun 328:914-21. 2005
    ..These data show that highly structural homologous glycoproteins use distinct trafficking pathways in the same cell...
  23. pmc Melanocytes and pigmentation are affected in dopachrome tautomerase knockout mice
    Laurence Guyonneau
    Molecular Oncology, Swiss Institute for Experimental Cancer Research, National Center of Competence in Research, 1066 Epalinges, Switzerland
    Mol Cell Biol 24:3396-403. 2004
    ..In comparison to the knockout, the slaty mutation (Dct(slt)/Dct(slt)) has less melanin and affects growth of primary melanocytes severely...
  24. ncbi Multiple requirements for Hes 1 during early eye formation
    Hae Young Lee
    Department of Pediatrics, Northwestern University Medical School at Children s Memorial Institute for Education and Research, Chicago, IL 60614, USA
    Dev Biol 284:464-78. 2005
    ..Together, these studies demonstrate that Hes1, like Pax6, simultaneously regulates multiple developmental processes during optic development...
  25. ncbi Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse
    J Cable
    MRC Institute of Hearing Research, University Park, Nottingham, UK
    Mech Dev 50:139-50. 1995
    ..These results suggest that mutations of the c-kit receptor tyrosine kinase encoded at the W locus do not alter early migration or differentiation of melanoblasts but severely affect melanoblasts survival...
  26. ncbi Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicle
    Lan Ying Wu
    Center for Craniofacial Molecular Biology, Division of Craniofacial Sciences and Therapeutics, School of Dentistry, Los Angeles, California 90033, USA
    Invest Ophthalmol Vis Sci 44:2404-12. 2003
    ..In the Msx1;Msx2, double mutant mouse, eye development arrests early in embryogenesis. To investigate possible functions of Msx2 in early ocular development, we created transgenic animals that overexpress Msx2...
  27. ncbi The murine cysteinyl leukotriene 2 (CysLT2) receptor. cDNA and genomic cloning, alternative splicing, and in vitro characterization
    Y Hui
    Center for Experimental Therapeutics, Department of Pharmacology, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Biol Chem 276:47489-95. 2001
    ..The identification of mCysLT(2)R will be useful for establishing CysLT(2)R-deficient mice and determining novel leukotriene functions...
  28. ncbi Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development
    Laura L Baxter
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Gene Expr Patterns 3:703-7. 2003
    ..Pmel17 expression in dorsal regions precedes dopachrome tautomerase (Dct) ISH expression, suggesting Pmel17 identifies melanoblasts at an earlier developmental stage...
  29. doi Functional characterization of melanocyte stem cells in hair follicles
    Satomi Nishikawa-Torikai
    Laboratory for Stem Cell Biology, RIKEN Center for Developmental Biology, Kobe, Japan
    J Invest Dermatol 131:2358-67. 2011
    ..Using Dct(tm1(Cre)Bee)/CAG-CAT-GFP mice, we show that, in the presence of stem cell factor and basic fibroblast growth factor ..
  30. ncbi Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin
    M L Lamoreux
    Department of Veterinary Pathobiology, Texas A and M University, College Station, USA
    Pigment Cell Res 14:23-31. 2001
    ..e., the albino (C) locus that encodes tyrosinase, the slaty (Slt) locus that encodes tyrosinase-related protein 2 (TRP2 also known as dopachrome tautomerase, DCT), the brown (..
  31. pmc Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness
    Annalisa Buniello
    Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom
    PLoS ONE 8:e56274. 2013
    ..We use Trp2 as a marker of melanoblasts migrating from the neural crest at E12...
  32. pmc NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche
    Chiung Ying Chang
    Howard Hughes Medical Institute, Laboratory of Mammalian Cell Biology and Development, The Rockefeller University, New York, New York 10065, USA
    Nature 495:98-102. 2013
    ..Our findings reveal how melanocyte and hair follicle stem cell behaviours maintain reliance upon cooperative factors within the niche, and how this can be uncoupled in injury, stress and disease states...
  33. ncbi Neuroepithelial cells supply an initial transient wave of MSC differentiation
    Yasuhiro Takashima
    Laboratory for Stem Cell Biology, RIKEN Center for Developmental Biology, 2 2 3 Minatojima minamimachi, Chuo Ku, Kobe, 650 0047, Japan
    Cell 129:1377-88. 2007
    ..MSC recruitment from this pathway, however, is transient and is replaced by MSCs from unknown sources. We conclude that MSC can be defined as a definite in vivo entity recruited from multiple developmental origins...
  34. ncbi Regulation of mammalian melanogenesis. I: Partial purification and characterization of a dopachrome converting factor: dopachrome tautomerase
    P Aroca
    Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Universidad de Murcia, Spain
    Biochim Biophys Acta 1035:266-75. 1990
    ..Since the reaction catalyzed by the enzyme is a tautomeric shift on dopachrome, we would propose dopachrome tautomerase (EC 5.3.2.3) as the most precise and informative name...
  35. ncbi Changes of melanosome morphology associated with the differentiation of epidermal melanocytes in slaty mice
    Tomohisa Hirobe
    Radiation Effect Mechanism Research Group, National Institute of Radiological Sciences, Anagawa, Inage Ku, Chiba, Japan
    Anat Rec (Hoboken) 290:981-93. 2007
    The slaty (Dct(slt)) mutation is known to reduce the activity of dopachrome tautomerase, which converts dopachrome to 5,6-dihydroxyindole-2-carboxylic acid in the pathway of eumelanin synthesis and to inhibit melanosome maturation in ..
  36. ncbi Hepatocyte growth factor/scatter factor-MET signaling in neural crest-derived melanocyte development
    L Kos
    Laboratory for Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Pigment Cell Res 12:13-21. 1999
    ..c. These results demonstrate that HGF/SF-MET signaling influences, but is not required for, the initial development of neural crest-derived melanocytes in vivo and in vitro...
  37. doi The developmental role of Agouti in color pattern evolution
    Marie Manceau
    Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA
    Science 331:1062-5. 2011
    ..Thus, natural selection favors late-acting, tissue-specific changes in embryonic Agouti expression to produce large changes in adult color pattern...
  38. ncbi Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma
    Arlo J Miller
    Dana Farber Cancer Institute and Children s Hospital, Department of Pediatric Hematology Oncology, Boston, Massachusetts, USA
    Cancer Res 64:509-16. 2004
    ..These studies identify MITF as a major transcriptional regulator of TRPM1 and suggest that its prognostic value may be linked to MITF-mediated regulation of cellular differentiation...
  39. pmc Bone morphogenetic protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons
    Rolf W Stottmann
    Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA
    Dev Dyn 240:755-65. 2011
    ..Our results also demonstrate a requirement for BMP signaling in patterning of dorsal neural tube cell fate and in neural crest cell formation, and imply a critical period shortly before neural tube closure...
  40. pmc The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10
    Pooja Agarwal
    Cardiovascular Research Institute, University of California, San Francisco, CA 94158 2517, USA
    Development 138:2555-65. 2011
    ....
  41. doi Impaired stria vascularis integrity upon loss of E-cadherin in basal cells
    Mark Oliver Trowe
    Institut fur Molekularbiologie, OE5250, Medizinische Hochschule Hannover, Carl Neuberg Str 1, D 30625 Hannover, Germany
    Dev Biol 359:95-107. 2011
    ....
  42. ncbi A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation
    Cherie Rao
    Genetics Division, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02476, USA
    Development 130:4665-72. 2003
    ..elegans. Our results suggest that the role of ADAMTS proteases in the regulation of cell migration has been conserved in mammalian development...
  43. ncbi Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome
    Tom Van de Putte
    Laboratory of Molecular Biology Celgen, KULeuven, Herestraat 49, B 3000 Leuven, Belgium
    Hum Mol Genet 16:1423-36. 2007
    ....
  44. doi Hair follicle stem cells provide a functional niche for melanocyte stem cells
    Shintaro Tanimura
    Department of Stem Cell Medicine, Cancer Research Institute, Kanazawa University, Kanazawa, Ishikawa, Japan
    Cell Stem Cell 8:177-87. 2011
    ....
  45. pmc Key roles for transforming growth factor beta in melanocyte stem cell maintenance
    Emi K Nishimura
    Department of Stem Cell Biology, Medical Research Institute, Tokyo Medical and Dental University, 2 3 10 Kandasurugadai, Chiyoda ku, Tokyo 101 0062, Japan
    Cell Stem Cell 6:130-40. 2010
    ..These data demonstrate that the TGF-beta signaling pathway is one of the key niche factors that regulate melanocyte stem cell immaturity and quiescence...
  46. ncbi High levels of melanin-related metabolites in plasma from pink-eyed dilution mice
    Kazumasa Wakamatsu
    Pigment Cell Res 20:222-4. 2007
  47. ncbi Dopachrome tautomerase (Dct) regulates neural progenitor cell proliferation
    Zhongxian Jiao
    Department of Neurology, Henry Ford Health Sciences Center, 2799 West Grand Boulevard, Detroit, MI 48202, USA
    Dev Biol 296:396-408. 2006
    DOPAchrome tautomerase (Dct) functions downstream of tyrosinase in the biosynthetic pathway of eumelanin by catalyzing the conversion of dopachrome to 5,5-dihydroxyindole-2-carboxylic acid (DHICA) in pigment cells...
  48. ncbi Molecular mechanisms underlying inner ear patterning defects in kreisler mutants
    Daniel Choo
    Department of Otolaryngology Head and Neck Surgery, Center for Hearing and Deafness Research, University of Cincinnati College of Medicine, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, OH 45229 3039, USA
    Dev Biol 289:308-17. 2006
    ..The data also identify Gbx2, Dlx5, Wnt2b and Otx2 as key otic genes ultimately affected by perturbation of the kr/mafB-hindbrain pathway...
  49. doi Timeline and distribution of melanocyte precursors in the mouse heart
    Flavia Carneiro Brito
    Department of Biological Sciences, Florida International University, Miami, Florida 33199, USA
    Pigment Cell Melanoma Res 21:464-70. 2008
    ..In this study, we tracked cardiac melanoblasts using in situ hybridization with a dopachrome tautomerase (Dct) probe and Dct-LacZ transgenic mice...
  50. pmc The transcription factor Sox5 modulates Sox10 function during melanocyte development
    C Claus Stolt
    Institut fur Biochemie, Emil Fischer Zentrum, Universitat Erlangen, Fahrstrasse 17, D 91054 Erlangen, Germany
    Nucleic Acids Res 36:5427-40. 2008
    ..Both binding site competition and recruitment of corepressors thus help Sox5 to modulate the activity of Sox10 in the melanocyte lineage...
  51. ncbi The slaty mutation affects the morphology and maturation of melanosomes in the mouse melanocytes
    Tomohisa Hirobe
    Radiation Effect Mechanism Research Group, National Institute of Radiological Sciences, Chiba, Japan
    Pigment Cell Res 19:454-9. 2006
    The slaty (Dct(slt)) mutation is known to reduce the activity of dopachrome tautomerase in melanocytes and to reduce the melanin content in skin, hairs and eyes...
  52. pmc Vax genes ventralize the embryonic eye
    Stina H Mui
    Molecular Neurobiology Laboratory, The Salk Institute La Jolla, California 92037, USA
    Genes Dev 19:1249-59. 2005
    ....
  53. pmc NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation
    Kristina Buac
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:773-84. 2009
    ..We propose that targeting ERBB3 activation and downstream genes identified in this study may provide novel therapeutic interventions for malignant melanoma...
  54. ncbi Cloning and analysis of gene regulation of a novel LPS-inducible cDNA
    C G Lee
    Department of Biochemistry, Baylor College of Medicine, Houston, Texas 77030, USA
    Immunogenetics 41:263-70. 1995
    ..By interspecific back-cross analysis, Irg1 was mapped to mouse chromosome 14 linked to Tyrp2 and Rap2a. The IRG1 message appears 1...
  55. doi Schwann cell precursors from nerve innervation are a cellular origin of melanocytes in skin
    Igor Adameyko
    Unit of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, 17177 Stockholm, Sweden
    Cell 139:366-79. 2009
    ..These results reveal SCPs as a cellular origin of melanocytes, and have broad implications on the molecular mechanisms regulating skin pigmentation during development, in health and pigmentation disorders...
  56. ncbi Requirement for Mab21l2 during development of murine retina and ventral body wall
    Ryuichi Yamada
    Graduate School of Biological Sciences, Nara Institute of Science and Technology, Ikoma, Nara, 630 0101, Japan
    Dev Biol 274:295-307. 2004
    ..Our results reveal that Mab21l2 plays crucial roles in retina and in ventral body wall formation...
  57. ncbi The role of Pax2 in mouse inner ear development
    Quianna Burton
    National Institute on Deafness and Other Communication Disorders, Bethesda, MD 20892, USA
    Dev Biol 272:161-75. 2004
    ....
  58. 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
    ..dark vesicles that contain tyrosinase and two other melanogenic enzymes, Tyrp1 (tyrosinase-related protein 1) and Dct (DOPAchrome tautomerase); this secretory process is not seen in wild-type melanocytes...
  59. pmc Mutation of melanosome protein RAB38 in chocolate mice
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 99:4471-6. 2002
    ..This study demonstrates the utility of expression profile analysis to identify mammalian disease genes...
  60. ncbi The genetics of pigmentation: from fancy genes to complex traits
    G S Barsh
    Department of Pediatrics, Howard Hughes Medical Institute, Stanford University School of Medicine, CA 94305 5428, USA
    Trends Genet 12:299-305. 1996
    ..Recent developments show that homologous genes in humans are responsible not only for rare diseases, such as albinism and piebaldism, but also for common phenotypic variations, such as red hair and fair skin...
  61. ncbi Tyrosinase-related protein-2 (DCT; TYRP2) maps to bovine chromosome 12
    G A Hawkins
    DNA Research and Testing Laboratory, ABS Global, Inc, DeForest, Wisconsin 53532, USA
    Mamm Genome 7:474-5. 1996
  62. ncbi Identification of genes differentially expressed in B16 murine melanoma sublines with different metastatic potentials
    T Ishiguro
    Laboratory of Biomedical Research, University of Tokyo, Japan
    Cancer Res 56:875-9. 1996
    ..TI-241 may regulate the expression of various genes as a transcription factor in the complex process of metastasis...
  63. ncbi Tyrosinase and related proteins in mammalian pigmentation
    V del Marmol
    LOCE, Institut J Bordet, Universite Libre de Bruxelles, Belgium
    FEBS Lett 381:165-8. 1996
    ..We will discuss recent findings on genomic organization, and on the proteins and their presumed function, which is important for eumelanin synthesis in mouse and man...
  64. pmc Fine structure mapping and deletion analysis of the murine piebald locus
    D L Metallinos
    Howard Hughes Medical Institute, Department of Molecular Biology, Princeton University, New Jersey 08544
    Genetics 136:217-23. 1994
    ..Two anchor loci of chromosome 14, slaty and hypogonadal, in addition to simple sequence length repeat markers, were used to localize s to a 2-cM interval ..
  65. ncbi Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14
    R A Sturm
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
    Genomics 21:293-6. 1994
  66. ncbi Functional analysis of the slaty gene product (TRP2) as dopachrome tautomerase and the effect of a point mutation on its catalytic function
    G Kroumpouzos
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
    Biochem Biophys Res Commun 202:1060-8. 1994
    ..Recently, a gene encoding a homologue of the melanogenic enzyme tyrosinase (termed tyrosinase related protein 2 or TRP2) was cloned and was subsequently mapped to the slaty locus on chromosome 14...
  67. ncbi High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex
    S J Orlow
    Ronald O Perelman Department of Dermatology, New York University School of Medicine, New York
    J Invest Dermatol 103:196-201. 1994
    ....
  68. ncbi Dopachrome tautomerase is a zinc-containing enzyme
    F Solano
    Dept of Biochemistry and Molecular Biology, School of Medicine, University of Murcia, Spain
    Biochem Biophys Res Commun 204:1243-50. 1994
    ..This enzyme, also named TRP2, belongs to the family of the tyrosinase related proteins...
  69. ncbi The role of Pax-6 in eye and nasal development
    J C Grindley
    Developmental Genetics Section, Western General Hospital, Edinburgh, UK
    Development 121:1433-42. 1995
    ....
  70. ncbi Soluble and cell-bound forms of steel factor activity play distinct roles in melanocyte precursor dispersal and survival on the lateral neural crest migration pathway
    B Wehrle-Haller
    Institute of Neuroscience, University of Oregon, Eugene 97403
    Development 121:731-42. 1995
    ..In contrast, membrane-bound Steel factor appears to promote melanocyte precursor survival in the dermis...
  71. pmc Changes in expression of putative antigens encoded by pigment genes in mouse melanomas at different stages of malignant progression
    S J Orlow
    Ronald O Perelman Department of Dermatology, New York University School of Medicine, New York 10016, USA
    Proc Natl Acad Sci U S A 92:10152-6. 1995
    ..within and among tumors in levels of mRNAs and proteins encoded by the wild-type alleles at the albino, brown, slaty, and silver loci...
  72. pmc A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse
    I J Jackson
    Medical Research Council Clinical, Western General Hospital, Edinburgh, United Kingdom
    Proc Natl Acad Sci U S A 85:4392-6. 1988
    ..All b mutations in laboratory strains are associated with the same diagnostic Taq I fragment, suggesting that all derive from the same original mutation. I discuss possible function(s) of the tyrosinase-related protein...
  73. ncbi Spatial and temporal patterns of c-kit-expressing cells in WlacZ/+ and WlacZ/WlacZ mouse embryos
    F Bernex
    URA INRA de Génétique Moleculaire, Ecole Nationale Veterinaire d Alfort, Maisons Alfort, France
    Development 122:3023-33. 1996
    ..Nevertheless, we assume that the Kit/SCF pathway could be involved in the growth of transformed endothelial, epithelial and endocrine cells...
  74. ncbi MGF (KIT ligand) is a chemokinetic factor for melanoblast migration into hair follicles
    S A Jordan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, United Kingdom
    Dev Biol 225:424-36. 2000
    ..We have utilised an organ culture for embryonic skin taken from Dct-lacZ transgenic mice...
  75. pmc Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye
    R Ashery-Padan
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Goettingen D 37077, Germany
    Genes Dev 14:2701-11. 2000
    ....
  76. ncbi Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently
    A Nakayama
    Laboratory of Developmental Neurogenetics, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Mech Dev 70:155-66. 1998
    ..In wild type embryos, Mitf expression in neuropithelium and neural crest precedes that of the melanoblast marker Dct, is then co-expressed with Dct, and gradually fades away except in cells in hair follicles...
  77. ncbi Analysis of melanocyte precursors in Nf1 mutants reveals that MGF/KIT signaling promotes directed cell migration independent of its function in cell survival
    B Wehrle-Haller
    Institute of Neuroscience, University of Oregon, Eugene, Oregon 97403 1254, USA
    Dev Biol 232:471-83. 2001
    ..We further suggest that the MGF mediates MP migration through a signaling pathway that does not involve RAS...
  78. ncbi Tyrosinase gene expression in zebrafish embryos
    E Camp
    Department of Molecular Biosciences Genetics, University of Adelaide, 5005 Adelaide, Australia
    Dev Genes Evol 211:150-3. 2001
    ..A wave of gene activation and cell migration is then observed moving towards the posterior of the animal. DOPA staining for tyrosinase activity shows the presence of active enzyme in embryos at least 3 h before visible pigmentation...
  79. ncbi Specific expression of the retinoic acid-synthesizing enzyme RALDH2 during mouse inner ear development
    R Romand
    Laboratoire de Neurobiologie, Universite Blaise Pascal, 63177 Cedex, Aubiere, France
    Mech Dev 106:185-9. 2001
    ..Raldh2 mesenchymal expression did not correlate with migrating neural crest-derived melanoblasts. These restricted expression domains may correspond to specific sites of RA synthesis during inner ear morphogenesis...
  80. ncbi Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor
    K Opdecamp
    Laboratory of Developmental Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Development 124:2377-86. 1997
    ..In the trunk region of wild-type embryos, Mitf-expressing cells that coexpressed the melanoblast marker Dct and the tyrosine kinase receptor Kit were found in the dorsolateral neural crest migration pathway...
  81. ncbi Comparative linkage mapping of human chromosome 13 and bovine chromosome 12
    H S Sun
    Department of Animal Sciences, University of Wisconsin, Madison 53706, USA
    Genomics 39:47-54. 1997
    ..One intrachromosomal rearrangement was detected in this linkage group relative to human, and this rearrangement was confirmed by fluorescence in situ hybridization results...
  82. ncbi Altered cell-surface targeting of stem cell factor causes loss of melanocyte precursors in Steel17H mutant mice
    B Wehrle-Haller
    Department of Pathology, Centre Medical Universitaire, 1, rue Michel Servet, Geneva 4, 1211, Switzerland
    Dev Biol 210:71-86. 1999
    ....
  83. pmc A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus
    I J Jackson
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    EMBO J 11:527-35. 1992
    ..The gene encoding TRP-2 maps to mouse chromosome 14, in the region of the coat colour mutation slaty. We show that the TRP-2 of slaty mice has a single amino acid difference from wild-type TRP-2; a substitution of ..
  84. pmc Melanocyte-like cells in the heart and pulmonary veins contribute to atrial arrhythmia triggers
    Mark D Levin
    Penn Cardiovascular Institute and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Clin Invest 119:3420-36. 2009
    ..The melanin synthesis enzyme dopachrome tautomerase (DCT) is involved in intracellular calcium and reactive species regulation in melanocytes...
  85. ncbi Tyrosinase stabilization by Tyrp1 (the brown locus protein)
    T Kobayashi
    Laboratory of Cell Biology, NCI, National Institutes of Health, Bethesda Maryland 20892, USA
    J Biol Chem 273:31801-5. 1998
    ..Tyrp1 (or TRP1) and 3,4-dihydroxyphenylalanine-chrome tautomerase (Dct or TRP2) encoded at the Tyrp1/brown and Dct/slaty loci, respectively...
  86. ncbi Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family
    B S Kwon
    Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, Indiana 46202
    J Invest Dermatol 100:134S-140S. 1993
    ..the tyrosinase gene family, which is comprised of tyrosinase (c locus), gp75 (b locus) and DOPAchrome tautomerase (slt locus)...
  87. doi Multiple roles of Notch signaling in the regulation of epidermal development
    Mariko Moriyama
    Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, MGH East, Building 149, 13th Street, Charlestown, MA 02129, USA
    Dev Cell 14:594-604. 2008
    ..Overall, we conclude that Notch signaling orchestrates the balance between differentiation and immature programs in suprabasal cells during epidermal development...
  88. ncbi Excess tyrosine restores the morphology and maturation of melanosomes affected by the murine slaty mutation
    Tomohisa Hirobe
    Radiation Effect Mechanism Research Group, National Institute of Radiological Sciences, Chiba, Japan
    Zoolog Sci 24:338-45. 2007
    The slaty (Dct(slt)) mutation is known to reduce the activity of dopachrome tautomerase in melanocytes and to reduce the melanin content in the skin, hairs, and eyes...
  89. ncbi Syntenic assignment of dopamine tautomerase (DCT) to bovine chromosome 12
    H S Sun
    Department of Animal Sciences, University of Wisconsin, Madison, California 53706, USA
    Anim Genet 27:421-2. 1996
    ....
  90. ncbi Modulation of melanogenic protein expression during the switch from eu- to pheomelanogenesis
    T Kobayashi
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Sci 108:2301-9. 1995
    ..g. TRP1 encoded at the brown locus and TRP2 encoded at the slaty locus) regulate eumelanogenesis catalytically at steps distal to tyrosinase (as 5,6-dihydroxyindole-2-carboxylic ..
  91. pmc HSP70i accelerates depigmentation in a mouse model of autoimmune vitiligo
    Cecele J Denman
    Department of Pathology Oncology Institute, Loyola University Chicago, Chicago, Illinois 60153, USA
    J Invest Dermatol 128:2041-8. 2008
    ..Cytotoxicity toward targets loaded with a K(b)-restricted tyrosinase-related protein 2-derived peptide correlated with depigmentation. The data presented strongly support a role for HSP70i in progressive depigmentation in vivo...
  92. pmc Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage
    Ramin Mollaaghababa Hakami
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Mech Dev 123:124-34. 2006
    ..Given that SOX10 directly activates Ednrb in the enteric nervous system, our results suggest that SOX10 may differentially activate target genes based on the particular cellular context...

Research Grants32

  1. Genetics of Dark Skin in Mice
    Gregory Barsh; Fiscal Year: 2006
    ....
  2. SIGNAL TRANSDUCTION AND MOUSE DEVELOPMENT
    Philippe Soriano; Fiscal Year: 2007
    ..These studies should help us understand growth factor regulatory mechanisms, and provide information on the specificity and interplay of growth factor signaling pathways in physiological processes. ..
  3. A preclinical trial of intratympanic antivirals for CMV-related hearing loss
    Daniel Choo; Fiscal Year: 2007
    ..Given the tremendous potential patient population of infants with congenital CMV infection and SNHL, it is compelling to pursue these studies and develop new therapies that are safe and effective. ..
  4. MEDICAL SCIENTIST TRAINING PROGRAM
    Gregory Barsh; Fiscal Year: 2007
    ..We propose to continue this trend of innovation and interdisciplinary training, in which training grant resources are leveraged, and 9 - 10 individuals are admitted per year for a program length of 7- 8 years. ..
  5. Attractin and Mahoganoid in Spongy Neurodegeneration
    Gregory Barsh; Fiscal Year: 2007
    ..Investigating the biochemical, cellular, and genetic relationships between Atrn, Mahoganoid, and PrP is likely to provide general insight into the pathogenesis of spongy degeneration. ..
  6. A preclinical trial of intratympanic antivirals for CMV-related hearing loss
    Daniel I Choo; Fiscal Year: 2010
    ..Given the tremendous potential patient population of infants with congenital CMV infection and SNHL, it is compelling to pursue these studies and develop new therapies that are safe and effective. ..
  7. Genetic dissection of pigment dispersing iris disease
    MICHAEL GARY ANDERSON; Fiscal Year: 2010
    ..Our objective in this proposal is to test the genetic pathways contributing to phenotypes of this mouse strain and test the significance of these genes among human pseudoexfoliation patients. ..
  8. A preclinical trial of intratympanic antivirals for CMV-related hearing loss
    Daniel Choo; Fiscal Year: 2009
    ..Given the tremendous potential patient population of infants with congenital CMV infection and SNHL, it is compelling to pursue these studies and develop new therapies that are safe and effective. ..
  9. REGULATION OF ENERGY BALANCE BY MELANOCORTIN ANTAGONISTS
    Gregory Barsh; Fiscal Year: 2003
    ..abstract_text> ..
  10. Molecular Development of the Endolymphatic Duct and Sac
    Daniel Choo; Fiscal Year: 2005
    ..Significantly, this proposal includes challenging but achievable goals that will provide important knowledge to the field of inner ear development. ..
  11. Genetic dissection of pigment dispersing iris disease
    MICHAEL GARY ANDERSON; Fiscal Year: 2010
    ..Our objective in this proposal is to test the genetic pathways contributing to phenotypes of this mouse strain and test the significance of these genes among human pseudoexfoliation patients. ..