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Human Reproduction, Vol. 17, No. 3, 710-717, March 2002
© 2002 European Society of Human Reproduction and Embryology

The rate of aneuploidy is altered in spermatids from infertile mice

L. Oppedisano1, G. Haines1, C. Hrabchak1, G. Fimia3, R. Elliott2, P. Sassone-Corsi3 and S. Varmuza1,4

1 Department of Zoology, University of Toronto, 25 Harbord St., Toronto, Ontario, Canada M4S 3G5, 2 Rosewell Park Cancer Institute, Department of Molecular and Cellular Biology, Buffalo, NY 14263-0001, USA and 3 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS-INSERM, Université Louis Pasteur, Illkirch-Strasbourg, France, 67404

BACKGROUND: It is now possible for infertile males to father their own genetic children through the technique of ICSI. This prospect has consequently prompted several investigations into the quality of sperm being retrieved from infertile males. One potential risk is the use of aneuploid sperm or spermatids, which might then be transferred to the fertilized oocyte. METHODS: In this investigation, aneuploidy of spermatids was assessed through immunocytochemistry using antibodies directed against chromosome centromeric regions and complexes. Three different types of infertile male mice with phenotypes closely resembling those described in human non-obstructive azoospermia [PP1c{gamma}-deficient mice, CREM-deficient mice and C57BL/6J.MAC-170–23 mice] were examined for chromosome numbers by counting the number of kinetochores in round spermatids using a CREST antiserum. RESULTS: PP1c{gamma}-/- and CREM-/- spermatids from infertile mice showed highly significant elevated levels in the rate of aneuploidy compared with wild-type animals (P < 0.0001). Thus infertile males with independent genetic mutations resulting in different histopathologies showed a high risk in the level of aneuploidy in their spermatids. CONCLUSIONS: These results suggest that impaired spermatogenesis may lead to production of aneuploid gametes. Analysis of aneuploidy in gametes from infertile men, coupled with appropriate genetic counselling, is recommended prior to ICSI.

Key words: aneuploidy/immunocytochemistry/spermatid/spermatogenesis/testis

4 To whom correspondence should be addressed. E-mail: svarmuza{at}zoo.utoronto.ca

Submitted on June 6, 2001


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