Molecular Human Reproduction, Vol. 6, No. 9, 789-793,
September 2000
© 2000 European Society of Human Reproduction and Embryology
Testis and spermatogenesis |
The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility
1 Inserm U.491, Faculté de Médecine, 27 Boulevard Jean Moulin, 13385 Marseille cedex 05, 2 Institut de Médecine de la Reproduction, 6 Rue Rocca, 13417 Marseille cedex 08, and 3 Departement de Génétique Médicale, Laboratoire de Génétique Moléculaire, Hôpital de la Timone, Marseille, France
Abstract
Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 and TTY2, which are candidate AZF genes. Four exceptional individuals who have transmitted a large AZFc deletion naturally to their infertile sons have, however, been described. In three cases, transmission was to an only son, but in the fourth case a Y chromosome, shown to be deleted for all copies of DAZ, was transmitted from a father to his four infertile sons. Here we present a second family of this latter type and demonstrate that an AZFc-deleted Y chromosome lacking not only DAZ, but also BPY2 and CDY1, has been transmitted from a father to his three infertile sons. Polymerase chain reaction (PCR) and Southern blot analyses revealed no difference in the size of the AZFc deletion in the father and his sons. We propose that the father carries rare alleles of autosomal or X-linked loci which suppress the infertility that is frequently associated with the absence of AZFc.
azoospermia/AZFc/infertility/spermatogenesis/Y chromosome
Notes
4 To whom correspondence should be addressed at: Inserm U.491, Faculté de Médecine, 27 Boulevard Jean Moulin, 13385 Marseille cedex 05, France. E-mail: mitchell{at}ibdm.univ-mrs.fr
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