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RUNX1T1基因编码的功能和结构描述

2022.8.22
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zhaoqisun

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该基因编码髓样易位基因家族的一个成员,该家族与dna结合的转录因子相互作用,并招募一系列的共加压因子以促进转录抑制。t(8;21)(q22;q22)易位是急性髓系白血病最常见的核型异常之一。该易位产生一个嵌合基因,由runt相关转录因子1基因的5'区与该基因的3'区融合而成。该嵌合蛋白被认为与核共加压素/组蛋白脱乙酰酶复合物有关,以阻止造血分化。选择性剪接导致多个转录变体。

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. 

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