人类γ-突触核蛋白基因的鉴定、定位及特性分析

Identification, localization and characterization of the human gamma-synuclein gene.

作者信息

Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum R L, Polymeropoulos M H

机构信息

Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Hum Genet. 1998 Jul;103(1):106-12. doi: 10.1007/s004390050792.

DOI:10.1007/s004390050792

PMID:9737786

Abstract

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 encode 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.

摘要

我们已经鉴定并表征了人突触核蛋白基因家族的一个新成员——γ-突触核蛋白（SNCG）。该基因由五个外显子组成，编码一种127个氨基酸的蛋白质，它与α-突触核蛋白高度同源，α-突触核蛋白在一些帕金森病家族中发生了突变，并且它也与β-突触核蛋白高度同源。γ-突触核蛋白基因定位于染色体10q23，主要在脑中表达，尤其是在黑质中。我们已经确定了它的基因组序列，并建立了每个外显子的序列分析条件。γ-突触核蛋白基因，也被称为BCSG1，最近被发现在乳腺浸润性癌晚期过度表达。我们对EST数据库的调查表明，它在卵巢肿瘤中可能也会过度表达。