Meiotic studies of translocations causing male sterility in the mouse. I. Autosomal reciprocal translocations

Abstract

A new meiotic phenomenon is described in male heterozygous for the male-sterile translocations T(10;13)199H, T(16;17)43H, and T(7;19)145H. The phenomenon consists of a nonrandom contact between the C bands of the X chromosome and the translocation configuration in diakinesis/metaphase I plates. Translocation configurations with positively heteropycnotic regions, oftern associated with the allocyclic X chromosome, are found in some early diakineses that have not been overtreated with alkali. Such heteropycnosis of a part of translocated autosome, apparently in phase with the allocyclic X, is typical for all three male-sterile translocations. In contrast to these findings, neither nonrandom contacts nor positive heteropycnosis of the translocation configuration can be found in males heterozygous for the translocation T(9;17)138Ca, which does not impair spermatogenesis. Dissociation of the X and Y at diakinesis is significantly enhanced in sterile males, though the occurrence of dissociation is evidently not related to the presence of the C-band contact between translocated chromosomes and the X. A working hypothesis is proposed, relating the observed nonrandom C-band contact and heteropycnosis of translocated chromosomes to a presumed impairment of X inactivation in primary spermatocytes and to consequent failure of spermatogenesis. An alternative explanation cannot be excluded, however, which would account for the hitherto available data wihtout postulating any causal relationship between the meiotic findings and male sterility. Both alternatives are amenable to experimental verification.