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  • 發布時間:2022-07-25 11:02 原文鏈接: ATRX基因突變與藥物因子介紹

    該基因編碼的蛋白含有一個atpase/螺旋酶結構域,因此屬于染色質重塑蛋白的swi/snf家族。這種蛋白被發現經歷了細胞周期依賴性磷酸化,它調節其核基質和染色質的結合,并表明它參與有絲分裂的間期基因調節和染色體分離。該基因突變與X連鎖精神發育遲滯(XLMR)綜合征有關,通常伴有α-地中海貧血(ATRX)綜合征。這些突變導致DNA甲基化模式的不同變化,這可能提供染色質重塑、DNA甲基化和發育過程中基因表達之間的聯系。已經報道了編碼不同亞型的多個選擇性剪接轉錄變體。
    The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.

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