BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer

被引：42

作者：

Tammaro, Claudia ^{[1
]}

Raponi, Michela ^{[1
]}

Wilson, David I. ^{[1
]}

Baralle, Diana ^{[1
]}

机构：

[1] Univ Southampton, Southampton Gen Hosp, Inst Dev Sci Bldg, Human Dev & Hlth Acad Unit,Fac Med, Southampton SO16 6YD, Hants, England

来源：

BIOCHEMICAL SOCIETY TRANSACTIONS | 2012年 / 40卷

关键词：

alternative splicing; breast cancer early-onset 1 (BRCA1); cancer; BREAST-CANCER; MICE LACKING; CELLS; OVEREXPRESSION; MUTATIONS; GENE; BRCA1-DELTA-11; HYPERPLASIA; VARIANTS; PROTEINS;

D O I：

10.1042/BST20120140

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

BRCA1 (breast cancer early-onset 1) alternative splicing levels are regulated in a cell-cycle- and cell-type-specific manner, with splice variants being present in different proportions in tumour cell lines as well as in normal mammary epithelial cells. The importance of this difference in the pathogenesis of breast cancer has yet to be determined. Developing an understanding of the impact of BRCA1 isoform ratio changes on cell phenotype will be of value in breast cancer and may offer therapeutic options. In the present paper, we describe the splicing isoforms of BRCA1 exon 11, their possible role in cancer biology and the importance of maintaining a balanced ratio.

引用

页码：768 / 772

页数：5

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