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X和Y染色体的配对、X连锁基因的非失活以及雄性因子。

Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor.

作者信息

Polani P E

出版信息

Hum Genet. 1982;60(3):207-11. doi: 10.1007/BF00303003.

Abstract

In this paper observations are summarized and speculations discussed, and it is suggested that some loci on the distal short arm of the X chromosome (Xp) are not randomly inactivated in the female, because they are within the proximal part of the pairing segment between Xp and Yp. This peculiarity of gene expression may be a remnant of the evolutionary history of the sex chromosomes, the pairing segment of which may involve at least 27% of Xp and 95% of Yp. Crossing over seems to occur mostly in the terminal third of the X/Y pairing segment. However, crossing-over inhibition control may lapse, or may be somewhat variable, within the pairing segment, so that some loci on the X and Y (e.g. Xg. H-Y, STS, and perhaps others) might cross over with a variable frequency which is proportional to their distances from the telomeres of the short arms. It is postulated that the DNA of the pairing segment is composed in a way which may also permit unequal crossing over to occur between the X and the Y, thereby giving rise to exceptions to X-or Y-linked inheritance. The peculiarities of behaviour and the position of other loci on the sex chromosomes are also discussed briefly.

摘要

本文总结了观察结果并讨论了推测内容,认为X染色体短臂远端(Xp)上的一些基因座在女性中并非随机失活,因为它们位于Xp与Yp配对区段的近端部分。这种基因表达的特殊性可能是性染色体进化历史的残余,其配对区段可能至少涉及Xp的27%和Yp的95%。交叉互换似乎主要发生在X/Y配对区段的末端三分之一处。然而,在配对区段内,交叉互换抑制控制可能失效,或者可能存在一定程度的变化,因此X和Y上的一些基因座(如Xg、H-Y、STS,或许还有其他基因座)可能会以可变频率发生交叉互换,该频率与其到短臂端粒的距离成正比。据推测,配对区段的DNA组成方式也可能允许X和Y之间发生不等交换,从而导致X连锁或Y连锁遗传出现例外情况。文中还简要讨论了性染色体上其他基因座的行为特点和位置。

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