• PMID: 18990391
• Gene Name: DAZ1
• Condition: Infertility
• Association: Partial AZFc deletions may have a limited impact on fertility
• Mutation: partial AZFc deletions
• Population size: 557
• Population details: 364 infertile men from mixed ethnic backgrounds, 193 fertile men (84) and/or normospermic (109).
• Sex: Male
• Infertility type: Male infertility

Y-chromosome AZFc structural architecture and relationship to male fertility

Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K.

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. FAU - Ravel, Celia AU - Ravel C AD - Human Developmental Genetics, Institut Pasteur, Paris, France. FAU - Chantot-Bastaraud, Sandra AU - Chantot-Bastaraud S FAU - El Houate, Brahim AU - El Houate B FAU - Rouba, Hassan AU - Rouba H FAU - Legendre, Marie AU - Legendre M FAU - Lorenço, Diana AU - Lorenço D FAU - Mandelbaum, Jacqueline AU - Mandelbaum J FAU - Siffroi, Jean Pierre AU - Siffroi JP