Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility

Abstract

Intimate association between autosomal translocation trivalents and XY bivalents at pachytene was observed in a majority of cells of two men ascertained through primary sterility and found to be heterozygous for a 14;21 Robertsonian translocation. The association, studied by light and electron microscopy of spread first spermatocytes, was between the unpaired short arms of the normal chromosomes of the translocation trivalent and the differential axes of the XY chromosomes. In a minority of cells, this contact was not established, or not maintained, as alternative combinations between the elements available for non-homologous pairing were realized. Following a suggestion of Lifschytz and Lindsley (1972), sterility in these patients was attributed to spermatogenic arrest caused by physical contact of sex chromosomes with autosomal material and consequent interference with the normal metabolism of the sex chromosomes. Autosomal aberrations and polymorphisms, which lead to the presence of unpaired segments at meiosis, may thus play a critical role in a general mechanism of chromosomally-derived male sterility. It is proposed that such a mechanism may also be instrumental in the initiation of reproductive barriers in nature.

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

“…These data are also in agreement with those obtained after human sperm-hamster oocyte fertilization (Table 2): indeed, Pellestor (1990) reported a majority of balanced chromosome complements (87.4%) resulting from an alternate mode of segregation in spermatozoa of a (13;15) translocation carrier. These observations corroborate with the prevalent formation of a cis configuration in the meiotic trivalent structure of ROBs (Vidal et al 1982;Luciani et al 1984;Templado et al 1984;Rosenmann et al 1985), the cis configuration leading to the predominant alternate segregation. These authors also confirm that meiotic segregation of ROBs does not occur randomly.…”

Synaptonemal complex analysis in goats carrying the 5/15 Robertsonian translocation

“…The authors have suggested that the proximity of the autosomal segment with the X chromosome may interfere with its inactivation process by harming the germinative cell. This kind of association has often been found in infertile men with balanced Robertsonian translocation between chromosomes 13 and 14 (Luciani et al, 1984) and 14 and 21 (Rosenmann et al, 1985).…”

Impact of reciprocal translocation t (18; 21) on male infertility and embryo development: lessons from an oocyte-donating ICSI cycle

“…On the other hand, the translocated chromosomes would form a pairing cross during meiosis, hindering the meiotic process and leading to spermatogenic arrest [9,10], which may be another mechanism of the association between chromosome translocation and oligozoospermia.…”