The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development

Mech Dev. 2002 Aug;116(1-2):209-12. doi: 10.1016/s0925-4773(02)00130-2.

Abstract

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.

MeSH terms

  • Albinism, Oculocutaneous / embryology*
  • Albinism, Oculocutaneous / genetics*
  • Albinism, Oculocutaneous / pathology
  • Animals
  • Antigens, Neoplasm
  • DNA-Binding Proteins / genetics
  • Gene Expression Regulation, Developmental
  • Genetic Markers
  • Humans
  • In Situ Hybridization
  • Intramolecular Oxidoreductases / genetics
  • Melanocytes / metabolism
  • Melanocytes / pathology
  • Membrane Glycoproteins*
  • Membrane Proteins*
  • Membrane Transport Proteins
  • Mice
  • Microphthalmia-Associated Transcription Factor
  • Mutation
  • Oxidoreductases*
  • Pigment Epithelium of Eye / embryology
  • Pigment Epithelium of Eye / metabolism
  • Pigment Epithelium of Eye / pathology
  • Proteins / genetics*
  • Stem Cells / metabolism
  • Stem Cells / pathology
  • Symporters
  • Transcription Factors / genetics

Substances

  • Antigens, Neoplasm
  • DNA-Binding Proteins
  • Genetic Markers
  • MITF protein, human
  • Matp protein, mouse
  • Membrane Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Microphthalmia-Associated Transcription Factor
  • Mitf protein, mouse
  • Proteins
  • SLC45A2 protein, human
  • Symporters
  • Transcription Factors
  • Oxidoreductases
  • TYRP1 protein, human
  • Tyrp1 protein, mouse
  • tyrosinase-related protein-1
  • Intramolecular Oxidoreductases
  • dopachrome isomerase