- Génétique et Infertilités
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Chromosome Y et stérilité masculine
Andrologie volume 9, pages 333–341 (1999)
Resume
L'origine génétique d'une grande proportion des stérilités idiopathiques est aujourd'hui largement reconnue. Des corrélations génotype-phénotype réalisées depuis plusieurs années ont permis d'établir que dans sa partie spécifique du sexe, le chromosome Y pourrait être le support génétique non exclusif d'un grand nombre de ces anomalies. Cette hypothèse se trouve aujourd'hui confortée par la meilleure définition moléculaire des intervalles de délétion de l'Y chez de tels patients. La mise en lumière de différents gènes ou famille de gènes localisés dans ces loci du chromosome Y conservés sur l'Y de différents mammifères mais aussi leurs profils d'expression au cours de la spermatogenèse permettent de postuler leur implication dans de telles stérilités. Cette mini-revue a pour but de dresser un état actuel de nos connaissances dans ce domaine.
Abstract
Over the past decade the tools of cytogenetic investigations, the access to new molecular probes (sequence-tagged sites) and the refinement of chromosome maps have provided the possibility to gain insights on the involvment of the Y chromosome as a support for part of the idiopathic male infertility. The first analysis of genotype-phenotype correlations established the existence of at least three separate intervals (known as Azoospermic Factor (AZF) loci) scattered through the sex specific sequences of the Y chromosome. Diverse genes or families of genes have been cloned so far and now form candidate genes to be equated to one of these azoospermic factors. Our current knowledge is depicted in the following mini-review.
References
ARNEMANN J., JAKUBICZKA S., THÜRING, S. et al. Cloning and sequence analysis of a human Ychromosome-derived, testicular cDNA, TSPY. Genomics, 1991, 11: 108–114.
BOURGERON, T., BARBAUX, S., MCELREAVEY, K. et al.: La génétique de la stérilité masculine. Médecine/sciences, 1996, 12: I-VIII.
BURGOYNE, P.S.: The mammalian Y chromosome: a new perspective. Bioessays, 1998, 20: 363–366.
CHAI, N.N., SALIDO, E.C. and YEN, P.H.: Multiple functional copies of theRBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics, 1997, 45: 355–361.
CHANDLEY, A.C.: Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum. Reprod., 1998, 13 Suppl. 1: 45–50.
DE KRETSER, D.M. and BURGER, H.G.: The Y chromosome and spermatogenesis. N. J. Engl. Med., 1997, 336, 576–578.
DELBRIDGE, M.L., HARRY, J.L., TODER, R. et al.: A human candidate spermatogenesis gene,RBM1, is conserved and amplified on the marsupial Y chromosome. Nature Genet., 1997, 15: 131–136.
EBERHART, C.G., MAINES, J.Z. and WASSERMAN, S.A.: Meiotic cell cycle requirement for a fly homologue of humanDeleted in Azoospermia. Nature, 1996, 381: 783–785.
ELLIOT, D.J., MILLAR, M.R., OGHENE, K. et al.: Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl. Acad. Sci. USA, 1997, 94: 3848–3853.
LAHN, BT, PAGE, DC: Functional coherence of the human Y chromosome. Science, 1997, 24;278: 675–80.
MAZEYRAT, S. MITCHELL, M.J.: Rodent Y chromosomeTSPY gene is functional in rat and non-functional in mouse. Hum. Mol. Genet., 1998, 7: 557–562.
PRYOR, J.L., KENT-FIRST, M., MUALLEM, A et al.: Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med., 1997, 336: 534–539.
REIJO, R., LEE, T.Y., SALO, P. et al.: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet., 1995, 10: 383–393.
ROBERTS, K.P.: Y-chromosome deletions and male infertility: state of the art and clinical implications. J. Androl., 1998, 19: 255–259.
RUGGIU, M., SPEED, R., TAGGART, M. et al.: The mouseDazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature, 1997, 389: 73–77.
SAXENA, R., BROWN, L.G., HAWKINS, T. et al.: TheDAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet., 1996, 14: 292–299.
TIEPOLO L. and ZUFFARDI O.: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 1976, 34, 119–124
VOGT, P.H.: Genetics of idiopathic male infertility: Y chromosomal azzospermia factors (AFAa, AZFb, AZFc). Baillieres Clin. Obstet. Gynaecol., 1997, 11: 773–795.
VOGT, P.H., EDELMANN, A., KIRSCH, S. et al.: Human Y chromosome azzospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 1996, 5: 933–943.
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Berta, P. Chromosome Y et stérilité masculine. Androl. 9, 333–341 (1999). https://doi.org/10.1007/BF03034806
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DOI: https://doi.org/10.1007/BF03034806