Connor F, Smith A, Wooster R, Stratton M, Dixon A, Campbell E, Tait T M, Freeman T, Ashworth A
CRC Centre for Cell and Molecular Biology, Chester Beatty Laboratories, Institute of Cancer Research, London, UK.
Hum Mol Genet. 1997 Feb;6(2):291-300. doi: 10.1093/hmg/6.2.291.
A proportion of human breast cancers result from an inherited predisposition to the disease. Mutations in the BRCA2 gene confer a high risk of breast cancer and are responsible for almost half of these cases. The recent cloning of the human BRCA2 gene has revealed that it encodes a large protein having little significant homology to known proteins. Here we describe the mouse Brca2 gene. The gene maps to mouse chromosome 5, consistent with its location on human chromosome 13q12. We have sequenced cDNA for the entire 3329 amino acid Brca2 protein and this has revealed that, like Brca1, Brca2 is relatively poorly conserved between humans and mice. Brca2 is transcribed in a diverse range of mouse tissues, and the pattern of expression is strikingly similar to that of Brca1. Taken together, our data highlight some intriguing similarities between two genes involved in inherited breast cancer susceptibility.
一部分人类乳腺癌是由遗传易感性导致的。BRCA2基因的突变会带来患乳腺癌的高风险,几乎一半的此类病例都与之有关。人类BRCA2基因的近期克隆表明,它编码一种与已知蛋白质几乎没有显著同源性的大型蛋白质。在此我们描述小鼠的Brca2基因。该基因定位于小鼠的5号染色体,与其在人类13号染色体q12上的位置一致。我们已对整个3329个氨基酸的Brca2蛋白的cDNA进行了测序,结果显示,与Brca1一样,Brca2在人类和小鼠之间的保守性相对较差。Brca2在多种小鼠组织中都有转录,其表达模式与Brca1惊人地相似。综合来看,我们的数据凸显了两个与遗传性乳腺癌易感性相关的基因之间一些有趣的相似之处。