Meiotic pairing and gametogenic failure

In males spermatogenic impairment is associated with a wide range of chromosomal anomalies, including XYY trisomy, XO monosomy with sex reversal and heterozygosity for many structural rearrangements. Common to all these anomalies is the presence of unpaired chromosome segments during pachytene. The stage at which spermatogenic cells are lost varies markedly from one anomaly to the next. The present paper considers the possibility that there may be a common mechanism underlying these various manifestations of spermatogenic failure. An analysis of meiotic data from XYY mice had previously pointed to a causal relationship between the presence of unpaired elements at pachytene, and a failure to reach metaphase II (MII). In apparent contradiction to this is the observation that sex-reversed XO mice form reasonable numbers of round spermatids (implying progression beyond MII) despite the presence of the unpaired X. However, evidence is presented that the round spermatids of XO Sxr mice are diploid, the second meiotic division having been omitted. Most of these spermatids degenerate during spermiogenesis, but a few very abnormal sperm are produced. The female counterparts of male sterile chromosome anomalies are usually fertile, so the mechanism causing the spermatogenic failure has been presumed to be inoperative in females. However, recent work on female XO mice has revealed that although they are fertile as adults, there is nevertheless extensive oogenic failure (a 60% reduction as compared to controls) during late pachytene. It is proposed that there is a mechanism operating in both males and females which selectively removes gametogenic cells in which there has been meiotic pairing failure. In females the mechanism is not completely efficient, so that sufficient of the 'at risk' oocytes usually survive to allow fertility. In males the severity and stage of spermatogenic loss is presumed to be related to the extent of the pairing failure at pachytene. In male mammals spermatogenesis is disrupted by a wide range of karyotypic anomalies. These include XYY trisomy; XO monosomy with sex reversal; X- or Y-autosome translocations; partial or complete autosomal trisomies; heterozygosity for some autosome-autosome translocations; double heterozygosity for some Robertsonian translocations and heterozygosity for some other structural rearrangements (e.g. rings, insertions, some inversions). Common to all these anomalies is the presence of incompletely paired (synapsed) regions at pachytene. The severity of the spermatogenic impairment and the stage most affected vary widely.(ABSTRACT TRUNCATED AT 400 WORDS)