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在丢失一条性染色体的急性髓系白血病M2型(AML-M2)中,未发现粒细胞-巨噬细胞集落刺激因子受体α链基因突变的证据。

No evidence for GM-CSF receptor alpha chain gene mutation in AML-M2 leukemias which have lost a sex chromosome.

作者信息

Brown M A, Harrison-Smith M, DeLuca E, Begley C G, Gough N M

机构信息

Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Victoria, Australia.

出版信息

Leukemia. 1994 Oct;8(10):1774-9.

PMID:7934175
Abstract

Sixty-five percent of acute myeloid leukemias subtype M2 (AML-M2), displaying a translocation between chromosomes 8 and 21 (t8;21) have also lost one or other copy of the sex chromosomes (XO). This finding has led to the hypothesis that a recessive oncogene may be present in the DNA common to both sex chromosomes, that is the pseudoautosomal region. The alpha chain of the receptor for the hemopoietic growth factor GM-CSF has recently been mapped to the human pseudoautosomal region and, given the role of this molecule in the control of normal hemopoiesis, it is thought to be a good candidate gene. This paper examines the structure, expression, and sequence of the GM-CSF receptor alpha chain gene (GMR alpha) in three primary AML-M2,XO samples and one AML-M2,XO cell line. Results of this work show no gross rearrangement or loss of the remaining allele of GMR alpha, detectable expression of its transcript and protein, and no changes at the nucleotide sequence level. Thus, we find no evidence to support a role for the GM-CSF receptor alpha chain molecule in the development of AML-M2,XO leukemias.

摘要

65%的急性髓系白血病M2型(AML-M2)存在8号和21号染色体之间的易位(t8;21),同时也丢失了一条性染色体(XO)。这一发现引发了一种假说,即隐性癌基因可能存在于两条性染色体共有的DNA中,也就是假常染色体区域。造血生长因子GM-CSF受体的α链最近已被定位到人类假常染色体区域,鉴于该分子在正常造血控制中的作用,它被认为是一个很好的候选基因。本文研究了3例原发性AML-M2、XO样本和1株AML-M2、XO细胞系中GM-CSF受体α链基因(GMRα)的结构、表达和序列。这项工作的结果显示,GMRα的剩余等位基因没有明显的重排或缺失,其转录本和蛋白质有可检测到的表达,并且在核苷酸序列水平没有变化。因此,我们没有发现证据支持GM-CSF受体α链分子在AML-M2、XO白血病发生中起作用。

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