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导致秀丽隐杆线虫胚胎致死的显性母体效应突变

Dominant maternal-effect mutations causing embryonic lethality in Caenorhabditis elegans.

作者信息

Mains P E, Sulston I A, Wood W B

机构信息

Department of Molecular, Cellular and Development Biology, University of Colorado, Boulder 80309.

出版信息

Genetics. 1990 Jun;125(2):351-69. doi: 10.1093/genetics/125.2.351.

Abstract

We undertook screens for dominant, temperature-sensitive, maternal-effect embryonic-lethal mutations of Caenorhabditis elegans as a way to identify certain classes of genes with early embryonic functions, in particular those that are members of multigene families and those that are required in two copies for normal development. The screens have identified eight mutations, representing six loci. Mutations at three of the loci result in only maternal effects on embryonic viability. Mutations at the remaining three loci cause additional nonmaternal (zygotic) effects, including recessive lethality or sterility and dominant male mating defects. Mutations at five of the loci cause visible pregastrulation defects. Three mutations appear to be allelic with a recessive mutation of let-354. Gene dosage experiments indicate that one mutation may be a loss-of-function allele at a haploin sufficient locus. The other mutations appear to result in gain-of-function "poison" gene products. Most of these become less deleterious as the relative dosage of the corresponding wild-type allele is increased; we show that relative self-progeny viabilities for the relevant hermaphrodite genotypes are generally M/+/+ greater than M/+ greater than M/M/+ greater than M/Df greater than M/M, where M represents the dominant mutant allele.

摘要

我们对线虫进行了显性、温度敏感、母体效应胚胎致死突变筛选,以此来鉴定具有早期胚胎功能的某些基因类别,特别是那些属于多基因家族的基因以及正常发育需要两份拷贝的基因。这些筛选鉴定出了八个突变,代表六个基因座。其中三个基因座的突变仅对胚胎活力产生母体效应。其余三个基因座的突变会导致额外的非母体(合子)效应,包括隐性致死或不育以及显性雄性交配缺陷。五个基因座的突变会导致明显的原肠胚形成前缺陷。三个突变似乎与let - 354的隐性突变等位。基因剂量实验表明,一个突变可能是单倍体不足基因座上的功能缺失等位基因。其他突变似乎导致功能获得性“毒性”基因产物。随着相应野生型等位基因相对剂量的增加,这些突变中的大多数危害变小;我们表明,相关雌雄同体基因型的相对自交后代活力通常为M/+/+大于M/+大于M/M/+大于M/Df大于M/M,其中M代表显性突变等位基因。

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