THE SEQUENCE OF THE HUMAN PHOSDUCIN GENE (PDC) AND ITS 5'-FLANKING REGION

被引：14

作者：

ABE, T ^{[1
]}

KIKUCHI, T ^{[1
]}

SHINOHARA, T ^{[1
]}

机构：

[1] NEI, RETINAL CELL & MOLEC BIOL LAB, BETHESDA, MD 20892 USA

来源：

GENOMICS | 1994年 / 19卷 / 02期

关键词：

D O I：

10.1006/geno.1994.1072

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：

Phosducin, a principal protein of the retinal photoreceptor cells, modulates the phototransduction cascade by interacting with transducin. Recently, it has been reported that phosducin is a protein virtually identical to the G-protein inhibitor protein (GIP) in brain. Here, we have sequenced the complete human gene (PDC) and 2215 bp of its 5'-flanking region. The gene is 18 kb in length and has four exons and three introns. The splicing sites for donor and acceptor are in good agreement with the GT/AG rule. Comparative studies of human and mouse phosducin revealed highly homologous sequences. Both the human phosducin gene and a mutant gene locus for Usher syndrome type II have been assigned to chromosome 1q25-q32. The association of this gene with a human disease locus suggests that phosducin may be a potential candidate gene for this disorder. (C) 1994 Academic Press, Inc.

引用

页码：369 / 372

页数：4

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