2004
DOI: 10.1086/381132
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A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup N

Abstract: Deletion of the entire AZFc locus on the human Y chromosome leads to male infertility. The functional roles of the individual gene families mapped to AZFc are, however, still poorly understood, since the analysis of the region is complicated by its repeated structure. We have therefore used single-nucleotide variants (SNVs) across approximately 3 Mb of the AZFc sequence to identify 17 AZFc haplotypes and have examined them for deletion of individual AZFc gene copies. We found five individuals who lacked SNVs f… Show more

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Cited by 169 publications
(180 citation statements)
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“…Indeed, "gr-gr" deletion frequency was significantly higher in the infertile group than in the control. Studies have presented "b2-b3" deletion as a polymorphism not associated with a spermatogenesis failure [10]. Only 1 "gr-gr" deletion was found in our fertile population [3.3%], and this finding is in agreement with recent studies.…”
Section: Validation Of Q-pcrsupporting
confidence: 93%
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“…Indeed, "gr-gr" deletion frequency was significantly higher in the infertile group than in the control. Studies have presented "b2-b3" deletion as a polymorphism not associated with a spermatogenesis failure [10]. Only 1 "gr-gr" deletion was found in our fertile population [3.3%], and this finding is in agreement with recent studies.…”
Section: Validation Of Q-pcrsupporting
confidence: 93%
“…The effect of AZFc microrearrangements on male fertility, in particular partial deletions, is still under discussion. Indeed, partial deletions have mainly been detected in infertile men, but several papers indicated that they were also found in fertile control men [5,[10][11][12][26][27][28]. Moreover, differences have been made between the incidence of "gr-gr" deletion and "b2-b3" deletion.…”
Section: Validation Of Q-pcrmentioning
confidence: 99%
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“…The AZFc region is prone to many smaller subdeletions (eg: gr/ gr, b2/b3) that are thought to be caused by intrachromosomal recombination [28]. The heterogeneities recorded for partial AZFc deletions reflect on two different levels (i) when comparing between different partial patterns (ii) when analysing phenotype diversity associated with single pattern [29,30]. More detailed analysis should be done to diagnose the type of partial deletions according to the ethnic population as in certain populations such sub deletions have been found in.…”
Section: Discussionmentioning
confidence: 99%