Burgoyne P S
Hum Genet. 1982;61(2):85-90. doi: 10.1007/BF00274192.
The "X-Y crossover model" described in this paper postulates the (1) the pairing observed between the X and the Y chromosome at zygotene is a consequence of genetic homology, (2) there is a single obligatory crossover between the X and Y pacing segments, and (3) the segment of the X which pairs with the Y is protected from subsequent inactivation. Genes distal to the proposed crossover ("pseudoautosomal genes") will appear to be autosomally inherited because they will be transmitted to both male and female offspring. Some criteria for identifying pseudoautosomal genes are outlined. The existence of a single obligatory crossover between the X and Y of the mouse is strongly supported by a recent demonstration that the sex-reversing mutation Sxr, which is passed equally to XX and XY offspring by male carriers, is transmitted on the sex chromosomes. Pseudoautosomally inherited genes may also be responsible for XX sex reversal in goats and familial XX sex reversal in man.
本文所述的“X - Y交叉模型”假定:(1)在偶线期观察到的X和Y染色体之间的配对是基因同源性的结果;(2)X和Y配对区段之间存在一个单一的 obligatory 交叉;(3)与Y配对的X区段可免受随后的失活影响。位于假定交叉远端的基因(“拟常染色体基因”)将表现出常染色体遗传方式,因为它们将传递给雄性和雌性后代。文中概述了一些鉴定拟常染色体基因的标准。最近有证据表明,雄性携带者将性反转突变Sxr 同等地传递给XX和XY后代,该突变在性染色体上传递,这有力地支持了小鼠X和Y之间存在一个单一的 obligatory 交叉这一观点。拟常染色体遗传的基因也可能是山羊XX性反转和人类家族性XX性反转的原因。