Identification, localization and characterization of the human γ-synuclein gene

被引：161

作者：

Lavedan, C

Leroy, E

Dehejia, A

Buchholtz, S

Dutra, A

Nussbaum, RL

Polymeropoulos, MH

机构：

[1] Natl Human Genome Res Inst, Lab Genet Dis Res, NIH, Bethesda, MD 20892 USA

[2] Johns Hopkins Bayview Med Ctr, Baltimore, MD 21224 USA

[3] Natl Human Genome Res Inst, Lab Gene Transfer, NIH, Bethesda, MD 20892 USA

来源：

HUMAN GENETICS | 1998年 / 103卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1007/s004390050792

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified and characterized a new member of the human synuclein gene family, gamma-synuclein (SNCG). This gene is composed of five exons, which en code a 127 amino acid protein that is highly homologous to alpha-synuclein, which is mutated in some Parkinson's disease families, and to beta-synuclein. The gamma-synuclein gene is localized to chromosome 10q23 and is principally expressed In the brain, particularly in the substantia nigra. We have determined its genomic sequence: and established conditions for sequence analysis of each of the exons. The gamma-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced infiltrating carcinoma of the breast, Our survey of the EST database Indicated that it might also be overexpressed in an ovarian tumor.

引用

页码：106 / 112

页数：7

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