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

被引：25

作者：

Baxter, LL ^{[1
]}

Pavan, WJ ^{[1
]}

机构：

[1] NHGRI, Mouse Embryol Sect, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

来源：

MECHANISMS OF DEVELOPMENT | 2002年 / 116卷 / 1-2期

关键词：

AIM-1; Matp; melanocyte; neural crest; melanoblast; melanoma; Mitf; oculocutaneous albinism; retinal pigmented epithelium; underwhite; pigment cell; tyrosinase; dopachrome tautomerase; melanogenic enzyme; hypopigmentation;

D O I：

10.1016/S0925-4773(02)00130-2

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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. Nail 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) 98 1). 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. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：209 / 212

页数：4

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