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人类急性白血病中的t(4;11)染色体易位将与果蝇三体胸节相关的ALL-1基因与AF-4基因融合。

The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene.

作者信息

Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce C M, Canaani E

机构信息

Jefferson Cancer Institute, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

出版信息

Cell. 1992 Nov 13;71(4):701-8. doi: 10.1016/0092-8674(92)90603-a.

Abstract

The ALL-1 gene located at human chromosome 11 band q23 is rearranged in acute leukemias with interstitial deletions or reciprocal translocations between this region and chromosomes 1, 4, 6, 9, 10, or 19. The gene spans approximately 100 kb of DNA and contains at least 21 exons. It encodes a protein of more than 3910 amino acids containing three regions with homology to sequences within the Drosophila trithorax gene, including cysteine-rich regions that can be folded into six zinc finger-like domains. The breakpoint cluster region within ALL-1 spans 8 kb and encompasses several small exons, most of which begin in the same phase of the open reading frame. The t(4;11) chromosome translocation results in two reciprocal fusion products coding for chimeric proteins derived from ALL-1 and from a gene on chromosome 4. This suggests that each 11q23 abnormality gives rise to a specific oncogenic fusion protein.

摘要

位于人类染色体11q23带的ALL-1基因在急性白血病中会发生重排,伴有该区域与染色体1、4、6、9、10或19之间的间质缺失或相互易位。该基因跨越约100 kb的DNA,包含至少21个外显子。它编码一种超过3910个氨基酸的蛋白质,该蛋白质包含三个与果蝇三体胸苷基因内序列具有同源性的区域,包括可折叠成六个锌指样结构域的富含半胱氨酸的区域。ALL-1内的断裂点簇区域跨越8 kb,包含几个小外显子,其中大部分起始于开放阅读框的同一相位。t(4;11)染色体易位产生两种相互的融合产物,编码源自ALL-1和4号染色体上一个基因的嵌合蛋白。这表明每个11q23异常都会产生一种特定的致癌融合蛋白。

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