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首页> 外文期刊>Molecular biology reports >Identification of novel SNPs in SYK gene of breast cancer patients: computational analysis of SNPs in the 5'UTR
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Identification of novel SNPs in SYK gene of breast cancer patients: computational analysis of SNPs in the 5'UTR

机译：乳腺癌患者SYK基因中新SNP的鉴定：5'UTR中SNP的计算分析

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摘要

Spleen tyrosine kinase (SYK) is a non receptor type tyrosine kinase and a known candidate tumor suppressor gene in breast carcinoma. Loss of Syk is associated with breast cancer invasion and increased cell mortality. The main goal of our study was to detect germ-line polymorphisms in SYK gene in breast cancer affected females of Pakistani origin, in order to understand the genetic basis of complex human breast cancer. Seven novel SYK gene SNPs were identified in breast cancer patients. Among these, three were identified in intronic region, one at the 5'splice donor site (5'SD) and three in 5'untranslated region (5'UTR) of SYK gene. Mutations at the 5'SD and at 5'UTR can be crucial and could be responsible for generation of mutated Syk protein. In silico analysis of the 5'UTR variations revealed that one of the mutations was responsible for generation of a more stable structure of 5'UTR. Such a change in pre-mRNA could potentially down regulate SYK expression. These findings add to the growing literature implicating dysfunctional SYK gene as a contributor to human breast cancer, and suggest that therapies targeting its molecular pathways could provide effective means of treating/preventing breast cancer.
机译：脾酪氨酸激酶（SYK）是一种非受体型酪氨酸激酶，是乳腺癌中已知的候选抑癌基因。 Syk的丢失与乳腺癌的侵袭和细胞死亡率的增加有关。我们研究的主要目的是在巴基斯坦籍受乳腺癌影响的女性中检测SYK基因的种系多态性，以了解复杂的人类乳腺癌的遗传基础。在乳腺癌患者中鉴定出七个新颖的SYK基因SNP。其中，在内含子区域鉴定出三个，在SYK基因的5'剪接供体位点（5'SD）和三个在5'非翻译区（5'UTR）鉴定。 5'SD和5'UTR处的突变可能至关重要，并且可能负责产生突变的Syk蛋白。对5'UTR变异的计算机分析表明，突变之一负责产生更稳定的5'UTR结构。前mRNA的这种变化可能会下调SYK表达。这些发现增加了涉及功能异常的SYK基因导致人类乳腺癌的文献，并表明靶向其分子途径的疗法可以提供治疗/预防乳腺癌的有效手段。

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