Rahman R, Lindsley D L
Genetics. 1981 Sep;99(1):49-64. doi: 10.1093/genetics/99.1.49.
The genetic limits of sixty-four deficiencies in the vicinity of the euchromatic-heterochromatic junction of the X chromosome were mapped with respect to a number of proximal recessive lethal mutations. They were also tested for male fertility in combination with three Y chromosomes carrying different amounts of proximal X-chromosome-derived material (BSYy+, y+Ymal126 and y+Ymal+). All deficiencies that did not include the locus of bb and a few that did were male-fertile in all male-viable Df(1)/Dp(1;Y) combinations. Nineteen bb deficiencies fell into six different classes by virtue of their male-fertility phenotypes when combined with the duplicated Y chromosomes. The six categories of deficiencies are consistent with a formalism that invokes three factors or regions at the base of the X, one distal and two proximal to bb, which bind a substance critical for precocious inactivation of the X chromosome in the primary spermatocyte. Free duplications carrying these regions or factors compete for the substance in such a way that, in the presence of such duplications, proximally deficient X chromosomes are unable to command sufficient substance for proper control of X-chromosome gene activity preparatory to spermatogenesis. We conclude that there is no single factor at the base of the X that is required for the fertility of males whose genotype is otherwise normal.
针对X染色体常染色质-异染色质交界处附近的64种缺失,相对于一些近端隐性致死突变绘制了其遗传界限。还将它们与三条携带不同数量近端X染色体衍生物质的Y染色体(BSYy +、y + Ymal126和y + Ymal +)组合,测试了雄性育性。在所有雄性可存活的Df(1)/Dp(1;Y)组合中,所有不包含bb位点的缺失以及少数包含bb位点的缺失都是雄性可育的。19种bb缺失根据其与重复Y染色体组合时的雄性育性表型分为六个不同类别。这六类缺失与一种形式主义一致,该形式主义在X染色体基部调用三个因子或区域,一个在bb远端,两个在bb近端,它们结合一种对初级精母细胞中X染色体早熟失活至关重要的物质。携带这些区域或因子的游离重复片段以这样一种方式竞争该物质,即在存在此类重复片段的情况下,近端缺失的X染色体无法获得足够的物质来适当控制精子发生前X染色体基因的活性。我们得出结论,对于基因型正常的雄性的育性而言,X染色体基部不存在单一的必需因子。