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  • 發布時間:2022-08-08 14:23 原文鏈接: 與結直腸癌相關的BARD1基因編碼功能描述

    這個基因編碼一種與BRCA1的N端區域相互作用的蛋白質。除了在體內和體外結合BRCA1的能力外,它還與BRCA1最保守的2個區域具有同源性:N端環基序和C端BRCT域。環基序是一個富含半胱氨酸的序列,存在于多種調節細胞生長的蛋白質中,包括腫瘤抑制基因和顯性原癌基因的產物。該蛋白還含有3個串聯錨蛋白重復序列。bard1/brca1相互作用被brca1中的致瘤氨基酸取代破壞,這意味著在這些蛋白質之間形成穩定的復合物可能是brca1腫瘤抑制的一個重要方面。這種蛋白可能是乳腺癌或卵巢癌致癌突變的靶點。該基因有多種編碼不同亞型的選擇性剪接轉錄變體。
    This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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