Y-chromosome AZFc structural architecture and relationship to male fertility.
OBJECTIVE
To determine if there is a relationship between various forms of partial AZFc deletions and spermatogenic failure.


METHODS
Case-control study.


METHODS
Infertility clinic (Tenon Hospital, Paris).


METHODS
557 men, comprising 364 infertile men from mixed ethnic backgrounds, and 193 men with known fertility (n = 84) and/or normospermic (n = 109).


METHODS
Characterization of 32 partial AZFc deletions.


METHODS
DAZ gene cluster divided into two families (DAZ1/2 and DAZ3/4), CDY1 gene, and Y-chromosome haplogroups.


RESULTS
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.


CONCLUSIONS
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.
Ravel
Celia
C
Human Developmental Genetics, Institut Pasteur, Paris, France.
Chantot-Bastaraud
Sandra
S
El Houate
Brahim
B
Rouba
Hassan
H
Legendre
Marie
M
Lorenço
Diana
D
Mandelbaum
Jacqueline
J
Siffroi
Jean Pierre
JP
McElreavey
Ken
K
D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics
C118459:CDY1 protein, human; C095668:DAZ1 protein, human; C459440:DAZ2 protein, human; C543054:DAZ3 protein, human; C543055:DAZ4 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins