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.
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.
Laura L
LL
Baxter
William J
WJ
Pavan
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