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无雄突变对黑腹果蝇X染色体和常染色体基因表达的影响。

Effects of the maleless mutation on X and autosomal gene expression in Drosophila melanogaster.

作者信息

Hiebert J C, Birchler J A

机构信息

Biological Laboratories, Harvard University, Cambridge, Massachusetts 02138.

出版信息

Genetics. 1994 Mar;136(3):913-26. doi: 10.1093/genetics/136.3.913.

Abstract

The mutational effect of the maleless (mle) gene in Drosophila has been reexamined. Earlier work had suggested that mle along with other male-lethal genes was responsible for hypertranscription of the X chromosome in males to bring about dosage compensation. Prompted by studies on dosage sensitive regulatory genes, we tested for effects of mlets on the phenotypes of 16 X or autosomal mutations in adult escapers of lethality. In third instar larvae, prior to the major lethal phase of mle, we examined activities of 6 X or autosomally encoded enzymes, steady state mRNA levels of 15 X-linked or autosomal genes and transcripts from two large genomic segments derived from either the X or from chromosome 2 and present in yeast artificial chromosomes. In contrast to the previously hypothesized role, we detected pronounced effects of mle on the expression of both X-linked and autosomal loci such that a large proportion of the tested genes were increased in expression, while only two X-linked loci were reduced. The most prevalent consequence was an increase of autosomal gene expression, which can explain previously observed reduced X:autosome transcription ratios. These observations suggest that if mle plays a role in the discrimination of the X and the autosomes, it may do so by modification of the effects of dosage sensitive regulatory genes.

摘要

对果蝇中无雄性基因(mle)的突变效应进行了重新研究。早期研究表明,mle与其他雄性致死基因一起负责雄性中X染色体的过度转录,以实现剂量补偿。受剂量敏感调控基因研究的启发,我们测试了mle突变对16个X染色体或常染色体突变在成年存活个体中的表型影响。在三龄幼虫中,在mle的主要致死阶段之前,我们检测了6种X染色体或常染色体编码酶的活性、15个X连锁或常染色体基因的稳态mRNA水平,以及来自X染色体或2号染色体的两个大基因组片段在酵母人工染色体中的转录本。与之前假设的作用相反,我们检测到mle对X连锁和常染色体基因座的表达均有显著影响,使得大部分测试基因的表达增加,而只有两个X连锁基因座的表达降低。最普遍的结果是常染色体基因表达增加,这可以解释之前观察到的X:常染色体转录比率降低的现象。这些观察结果表明,如果mle在区分X染色体和常染色体中起作用,它可能是通过改变剂量敏感调控基因的效应来实现的。

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