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急性髓细胞白血病中N-ras基因通过第一个外显子的体细胞突变而激活。

Activation of an N-ras gene in acute myeloblastic leukemia through somatic mutation in the first exon.

作者信息

Gambke C, Hall A, Moroni C

出版信息

Proc Natl Acad Sci U S A. 1985 Feb;82(3):879-82. doi: 10.1073/pnas.82.3.879.

Abstract

A transforming N-ras gene has been cloned from acute myeloblastic leukemia bone marrow cells, in parallel with the N-ras gene derived from fibroblasts of the same patient. N-ras derived from fibroblasts lacked focus-forming activity in NIH/3T3 cells, indicating that gene activation in the leukemia cells must have occurred by a somatic event. Construction of chimeric molecules between the transforming and the normal N-ras genes and subsequent biological and sequence analysis of these constructs revealed that the transforming gene was altered by a point mutation changing amino acid 12 of the N-ras protein from glycine to aspartic acid.

摘要

已从急性髓性白血病骨髓细胞中克隆出一个具有转化能力的N-ras基因,同时还克隆了来自同一名患者成纤维细胞的N-ras基因。源自成纤维细胞的N-ras基因在NIH/3T3细胞中缺乏集落形成活性,这表明白血病细胞中的基因激活必定是由体细胞事件引起的。构建转化型和正常N-ras基因之间的嵌合分子,并对这些构建体进行后续的生物学和序列分析,结果显示转化基因发生了点突变,使N-ras蛋白的第12位氨基酸由甘氨酸变为天冬氨酸。

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