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Existe-il, dans la population générale masculine un risque plus fort de développer des délétions du chromosome Y qui entraîneraient une infertilité?

Are some males in the general population at a higher risk for Y-chromosome deletions leading to male infertility?

Andrologie volume 10, pages 40–46 (2000)Cite this article

Résumé

Le rôle du chromosome Y dans la spermatogenèse reste encore un important sujet de débats en andrologie. Trois régions non-chevauchantes (AZFa, AZFb, AZFc) ont été décrites, chacune contenant plusieurs gènes candidats pour l’infertilité. Les raisons et les mécanismes qui entraîneraient la formation des microdélétions sur le chromosome Y sont inconnus. En théorie, il serait possible que certains groupes de chromosomes Y (haplogroupes), couramment présents dans la population, puissent êtres responsables d’un avantage ou d’un désavantage sélectif concernant la formation d’une délétion. A ce sujet, un précédent concerne la récente définition de plusieurs haplotypes du chromosome Y qui prédisposent à la pathologie d’homme 46 XX (Y+). Dans le but de déterminer s’il y a des forces sélectives qui agiraient sur le chromosome Y, nous avons défini les haplotypes du chromosome Y chez 60 patients infertiles présentant des microdélétions sur le bras long du chromosome Y en utilisant 10 marqueurs biallèliques (SRY-2627, SRY-1532, SRY-8299, 92R7, Tat, YAP, sY81, LLY22g, M9, DYS257). Une étude identique a également été réalisée sur un groupe contrôle d’hommes fertiles normospermiques appartenant à la même région géographique et à la même origine ethnique. Ici, nous discutons des possibles forces sélectives agissantes sur le chromosome Y et spéculons sur les mécanismes responsables de la formation des délétions.

Abstract

The role of the Y-chromosome in spermatogenesis remains one of the hottest topics in andrology. Three non overlapping recurrently deleted regions on Yq (AZFa, AZFb, AZFc) have been defined, each of them containing several genes that are candidates for male infertility. The causes and mechanisms leading to microdeletion formation on the Y are largely unknown. Theoretically, it could be possible that some groups of Y-chromosomes (haplogroups) currently distributed in the population could confer a selective advantage/disadvantage towards deletion formation. A precedent in the field is the recent identification of a Y-chromosome haplotype that confers a selective advantage against a translocation of Yp leading to another form of male infertility, the Y+XX-male phenotype. In order to test if selection is acting on Y-chromosome haplotype distribution, we have defined and compared Y-chromosome haplotypes in a group of around 60 individuals with Y microdeletions from North-Western Europe using 10 biallelic Y-markers (SRY-2627, SRY-1532, SRY-8299, 92R7, Tat, YAP, sY81, LLY22g, M9, DYS257). The defined heplotypes were compared to a control normospermic population of the same ethnic/geographic origin (in the framework of the European Biodiversity Project).

We evaluatte the relationship between different Y-chromosome backgrounds and microdeletions, and to which extent selection on this chromosome could have influenced fifness of certain individuals/populations. We also discuss the selective forces that are acting on this chromosome and speculate on the mechanisms underlying deletion formation.

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Authors and Affiliations

  1. Unité d’Immunogénétique Humaine, INSTITUT PASTEUR, 25-28 rue du Dr. Roux, 75724, Paris Cedex 15

    L. Quintana-Murci, C. Krausz & K. McElreavey

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  1. L. Quintana-Murci
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  2. C. Krausz
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  3. K. McElreavey
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Quintana-Murci, L., Krausz, C. & McElreavey, K. Existe-il, dans la population générale masculine un risque plus fort de développer des délétions du chromosome Y qui entraîneraient une infertilité?. Androl. 10, 40–46 (2000). https://doi.org/10.1007/BF03035222

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Basic and Clinical Andrology

ISSN: 2051-4190