ORGANIZATION AND SEQUENCE OF THE HUMAN P-GENE AND IDENTIFICATION OF A NEW FAMILY OF TRANSPORT PROTEINS

被引：159

作者：

LEE, ST

NICHOLLS, RD

JONG, MTC

FUKAI, K

SPRITZ, RA

机构：

[1] UNIV WISCONSIN, SCH MED, DEPT MED GENET, GENET LAB 317, MADISON, WI 53706 USA

[2] UNIV WISCONSIN, SCH MED, DEPT PEDIAT, GENET LAB, MADISON, WI 53706 USA

[3] CASE WESTERN RESERVE UNIV, SCH MED, DEPT GENET, CLEVELAND, OH 44106 USA

[4] CASE WESTERN RESERVE UNIV, SCH MED, CTR HUMAN GENET, CLEVELAND, OH 44106 USA

[5] UNIV CLEVELAND HOSP, CLEVELAND, OH 44106 USA

来源：

GENOMICS | 1995年 / 26卷 / 02期

关键词：

D O I：

10.1016/0888-7543(95)80220-G

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15ql1-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation. (C) 1996 Academic Press, Inc.

引用

页码：354 / 363

页数：10

共 39 条

[1] BASIC LOCAL ALIGNMENT SEARCH TOOL [J].