The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development.
Expression profile analysis demonstrated that the expression of membrane-associated transporter protein (MATP) varied similarly to the melanogenic enzymes dopachrome tautomerase (DCT) and tyrosinase related protein 1 (TYRP1) (Proc. 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. Hum. Genet. 69 (2001) 981). Consistent with MATP acting in a pigment cell autonomous manner, in situ hybridization analysis demonstrated expression of murine Matp in the presumptive retinal pigmented epithelium starting at E9.5, and in neural crest-derived melanoblasts starting at E10.5. Matp expression is reduced in embryos mutated for microphthalmia-associated transcription factor (Mitf) (Cell 74 (1993) 395; J. Biol. Chem. 268 (1993) 20687), suggesting Mitf regulates Matp expression.
Baxter
Laura L
LL
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.
Pavan
William J
WJ
D016115:Albinism, Oculocutaneous / Q000196:embryology* / Q000235:genetics* / Q000473:pathology; D000818:Animals; D000951:Antigens, Neoplasm; D004268:DNA-Binding Proteins / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D005819:Genetic Markers; D006801:Humans; D017403:In Situ Hybridization; D019746:Intramolecular Oxidoreductases / Q000235:genetics; D008544:Melanocytes / Q000378:metabolism / Q000473:pathology; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D051379:Mice; D051739:Microphthalmia-Associated Transcription Factor; D009154:Mutation; D010088:Oxidoreductases; D010857:Pigment Epithelium of Eye / Q000196:embryology / Q000378:metabolism / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D013234:Stem Cells / Q000378:metabolism / Q000473:pathology; D027981:Symporters; D014157:Transcription Factors / Q000235:genetics
D000951:Antigens, Neoplasm; D004268:DNA-Binding Proteins; D005819:Genetic Markers; C497234:MITF protein, human; C486338:Matp protein, mouse; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D051739:Microphthalmia-Associated Transcription Factor; C497235:Mitf protein, mouse; D011506:Proteins; C510061:SLC45A2 protein, human; D027981:Symporters; D014157:Transcription Factors; D010088:Oxidoreductases; C489799:TYRP1 protein, human; C079621:Tyrp1 protein, mouse; C064056:tyrosinase-related protein-1; D019746:Intramolecular Oxidoreductases; C042501:dopachrome isomerase