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秀丽隐杆线虫第二连锁群上的母体效应致死突变。

Maternal-effect lethal mutations on linkage group II of Caenorhabditis elegans.

作者信息

Kemphues K J, Kusch M, Wolf N

机构信息

Section of Genetics and Development, Cornell University, Ithaca, New York 14853.

出版信息

Genetics. 1988 Dec;120(4):977-86. doi: 10.1093/genetics/120.4.977.

Abstract

We have analyzed a set of linkage group (LG) II maternal-effect lethal mutations in Caenorhabditis elegans isolated by a new screening procedure. Screens of 12,455 F1 progeny from mutagenized adults resulted in the recovery of 54 maternal-effect lethal mutations identifying 29 genes. Of the 54 mutations, 39 are strict maternal-effect mutations defining 17 genes. These 17 genes fall into two classes distinguished by frequency of mutation to strict maternal-effect lethality. The smaller class, comprised of four genes, mutated to strict maternal-effect lethality at a frequency close to 5 X 10(-4), a rate typical of essential genes in C. elegans. Two of these genes are expressed during oogenesis and required exclusively for embryogenesis (pure maternal genes), one appears to be required specifically for meiosis, and the fourth has a more complex pattern of expression. The other 13 genes were represented by only one or two strict maternal alleles each. Two of these are identical genes previously identified by nonmaternal embryonic lethal mutations. We interpret our results to mean that although many C. elegans genes can mutate to strict maternal-effect lethality, most genes mutate to that phenotype rarely. Pure maternal genes, however, are among a smaller class of genes that mutate to maternal-effect lethality at typical rates. If our interpretation is correct, we are near saturation for pure maternal genes in the region of LG II balanced by mnC1. We conclude that the number of pure maternal genes in C. elegans is small, being probably not much higher than 12.

摘要

我们分析了一组通过新筛选程序分离得到的秀丽隐杆线虫连锁群(LG)II母系效应致死突变。对诱变成虫产生的12,455个F1后代进行筛选,共获得54个母系效应致死突变,鉴定出29个基因。在这54个突变中,39个是严格的母系效应突变,定义了17个基因。这17个基因分为两类,以突变为严格母系效应致死的频率区分。较小的一类由4个基因组成,突变为严格母系效应致死的频率接近5×10^(-4),这是秀丽隐杆线虫中必需基因的典型突变率。其中两个基因在卵子发生过程中表达,仅对胚胎发育是必需的(纯母系基因),一个似乎对减数分裂有特定需求,第四个基因的表达模式更为复杂。另外13个基因每个仅由一两个严格的母系等位基因代表。其中两个是先前通过非母系胚胎致死突变鉴定出的相同基因。我们将结果解释为,尽管许多秀丽隐杆线虫基因可突变为严格的母系效应致死,但大多数基因很少突变为该表型。然而,纯母系基因属于以典型速率突变为母系效应致死的较小组基因。如果我们的解释正确,在由mnC1平衡的LG II区域中,我们已接近纯母系基因的饱和状态。我们得出结论,秀丽隐杆线虫中纯母系基因的数量很少,可能不超过12个。

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