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大片段同源性迫使与之紧密连锁的点突变呈现基因转换模式。

Large Heterologies Impose Their Gene Conversion Pattern onto Closely Linked Point Mutations.

机构信息

Laboratoire IMG, Bâtiment 400, Université Paris-Sud, 91405 Orsay Cedex, France.

出版信息

Genetics. 1987 May;116(1):45-53. doi: 10.1093/genetics/116.1.45.

Abstract

We have studied the meiotic non-Mendelian segregation (NMS) pattern of seven large heterologous combinations located in the b2 ascospore gene of Ascobolus. The NMS patterns of these aberration heterozygotes widely differ from each other and from those of point mutations located in the same genetic region. They give lower gene conversion frequencies than point mutations, no postmeiotic segregations (PMS), and either parity or disparity that favors the wild type allele. Two related deletions, G234 and G40, were studied for their effects on the conversion behavior of closely linked point mutations. We found that, when heterozygous, the deletions impose their own NMS pattern onto close mutations. These effects occur on both sides of the heterologies. The effects upon PMS and disparity of linked point mutations gradually disappear as point mutations become more distant. The effects on NMS frequencies and on aberrant 4:4 are polar. They persist for all mutations located downstream from the high conversion end of the gene. This last effect can reflect a blockage of symmetric hDNA formation by large heterologies, whereas the epistasis of the NMS pattern of large heterologies over that of closely linked point mutations suggests that large heterologies and point mutations undergo conversion by means of distinct pathways.

摘要

我们研究了位于 Ascobolus b2 孢子基因中的七个大型异源组合的减数分裂非 Mendelian 分离(NMS)模式。这些异常杂合体的 NMS 模式彼此之间以及与位于同一遗传区域的点突变有很大不同。它们的基因转换频率低于点突变,没有减数分裂后分离(PMS),并且偏向野生型等位基因的奇偶性或不均等性。我们研究了两个相关的缺失,G234 和 G40,以了解它们对紧密连锁点突变转换行为的影响。我们发现,当杂合子时,缺失将其自身的 NMS 模式强加于临近的突变。这些影响发生在异源的两侧。随着点突变变得更远,连锁点突变的 PMS 和不均等性的影响逐渐消失。对 NMS 频率和异常 4:4 的影响是极性的。它们在基因高转换端下游的所有突变中都存在。最后一个影响可能反映了大异源体对线状 hDNA 形成的阻断,而大异源体的 NMS 模式对紧密连锁点突变的上位性表明,大异源体和点突变通过不同的途径进行转换。

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