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Article Dans Une Revue (Data Paper) Fertility and Sterility Année : 2009

Y-chromosome AZFc structural architecture and relationship to male fertility

Résumé

Objective: To determine if there is a relationship between various forms of partial AZFc deletions and spermatogenic failure. Design: Case-control study. Setting: Infertility clinic (Tenon Hospital, Paris). Patient(s): 557 men, comprising 364 infertile men from mixed ethnic backgrounds, and 193 men with known fertility (n = 84) and/or normospermic (n = 109). Intervention(s): Characterization of 32 partial AZFc deletions. Main outcome measure(s): DAZ gene cluster divided into two families (DAZ1/2 and DAZ3/4), CDY1 gene, and Y-chromosome haplogroups. Result(s): We observed 18 partial AZFc deletions in 364 (4.95%) infertile men compared with 14 out of 193 (7.25%) in the control normospermic/fertile group. Conclusion(s): The analysis of informative Y-chromosome single nucleotide variants combined with Y-chromosome haplogroup definition enabled us to infer seven deletion classes that occur on a minimum of six Y-chromosome parental architectures. We found no relationship between either the presence or the absence of DAZ1/2, DAZ3/4, CDY1a, or CDY1b with spermatogenic failure at least on one Y-chromosome lineage. The DAZ dosage and Southern blot analyses indicated that the majority of individuals tested carried two copies of the DAZ gene, indicating a partial AZFc deletion. Our data are consistent with the hypothesis that, at least in our study populations, partial AZFc deletions may have a limited impact on fertility.
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inserm-04133897 , version 1 (20-06-2023)

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Celia Ravel, Sandra Chantot-Bastaraud, Brahim El Houate, Hassan Rouba, Marie Legendre, et al.. Y-chromosome AZFc structural architecture and relationship to male fertility. Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩. ⟨inserm-04133897⟩
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