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家鼠显性白斑(W)位点的多效性分析:十个新W等位基因的描述。

Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles.

作者信息

Geissler E N, McFarland E C, Russell E S

出版信息

Genetics. 1981 Feb;97(2):337-61. doi: 10.1093/genetics/97.2.337.

Abstract

Characterization of the pleiotropic effects of ten new putative W locus mutations, nine co-isogenic and one highly congenic with the C57BL/6J strain, reveals a wide variety of influences upon pigmentation, blood formation and gametogenesis. None of the putative alleles, each of which is closely linked to Ph, a gene 0.1 cM from W, gave evidence of complementation with W39, a new allele previously shown to be allelic to Wv. All W/W39 genotypes resulted in black-eyed-white anemics with reduced gametogenic activity. Homozygotes for seven of these mutations are lethal during perinatal life; anemic embryos have been identified in litters produced by intercross matings involving each of these alleles.--Phenotypes of mice of several mutant genotypes provide exceptions to the frequent observation that a double dose of dominant W alleles (e.g., W/Wv or W/W) results in defects of corresponding severity in each of the three affected tissues. One viable homozygote has little or no defect in blood formation, and another appears to have normal fertility. The phenotypes of these homozygotes support the conclusion that the three tissue defects are not dependent on each other for their appearance and probably do not result from a single physiological disturbance during the development of the embryo.--Although homozygosity for members of this series results in a wide range of phenotypes, the absence of complementation of any allele with W39, the close proximity of each mutant to Ph, and the fact that all alleles produce detectable (though sometimes marginal) defects in the same tissues affected by W and Wv, support the hypothesis that each new mutant gene is a W allele.

摘要

对十个新的假定W位点突变的多效性效应进行表征,其中九个与C57BL/6J品系共同源,一个与该品系高度同源,结果显示这些突变对色素沉着、血液形成和配子发生有广泛影响。每个假定等位基因都与Ph紧密连锁,Ph是一个距W基因0.1厘摩的基因,没有一个等位基因能与W39互补,W39是一个先前已证明与Wv等位的新等位基因。所有W/W39基因型都导致黑眼白贫血小鼠,其配子发生活性降低。其中七个突变的纯合子在围产期致死;在涉及这些等位基因的互交交配产生的窝中已鉴定出贫血胚胎。——几种突变基因型小鼠的表型为常见观察结果提供了例外,即双剂量的显性W等位基因(如W/Wv或W/W)会在三个受影响组织中导致相应严重程度的缺陷。一个存活的纯合子在血液形成方面几乎没有缺陷,另一个似乎具有正常的生育能力。这些纯合子的表型支持这样的结论:这三个组织缺陷在出现时并不相互依赖,可能不是胚胎发育过程中单一生理干扰的结果。——尽管该系列成员的纯合性会导致广泛的表型,但任何等位基因与W39都不互补、每个突变体与Ph紧密相邻,以及所有等位基因在受W和Wv影响的相同组织中都会产生可检测到的(尽管有时很轻微)缺陷,这些都支持了每个新突变基因都是W等位基因的假设。

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