Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

Paracchini, Silvia; Stuppia, Liborio; Gatta, Valentina; Palka, Giandomenico; Moro, Enrico; Foresta, Carlo; Mengua, L.; Oliva, Rafael; Ballescá, José-Luis; Kremer, J.A.M.; Golde, Ron J T van; Tuerlings, J.H.A.M.; Hargreave, T. B.; Ross, Allyson; Cooke, Howard J.; Huellen, K.; Vogt, Peter H.; Tyler‐Smith, Chris

doi:10.1007/bf03343792

Cited by 29 publications

(14 citation statements)

References 33 publications

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“…In Asian populations, although the correct distribution pattern of Y haplogroups is still not known, haplogroup N, which is susceptible to spontaneous gr/gr deletions, is reported to be common in this region (Fernandes et al, 2004). Other reports failed to find an association between Y haplogroups and gr/gr deletions when studying less homogenous populations (Paracchini et al, 2000;Quintana-Murci et al, 2001;Carvalho et al, 2003). In our study, 54.16% of infertile men who carried the gr/gr deletion belonged to haplogroup E3b2.…”

Section: Discussioncontrasting

confidence: 60%

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Ghorbel¹,

Gargouri²,

Zribi³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Azoospermia factor (AZF) subdeletions were reported to be significant risk factors for spermatogenesis. In this study, we screened classical and partial microdeletions of the Y-chromosome AZF region in a group of 261 infertile men. Partial deletions were also screened in a control group of fertile men (n=124). In addition, Y haplogroups were analyzed in 24 gr/gr deleted patients. Among the 261 studied infertile men, seven subjects were found to have classical microdeletions. The most common partial deletion of AZFc (gr/gr) was observed in 13.02% of infertile men and in 12.90% of fertile men. The b1/b3 deletion was identified in 4.98% of infertile men and in 2.41% of fertile men. In addition, the b2/b3 deletion was identified in 1.53% of infertile patients but not in the control group. Our results suggest that partial AZFc deletions are not associated with spermatogenic failure in the Tunisian population.

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Section: Discussioncontrasting

confidence: 60%

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Ghorbel¹,

Gargouri²,

Zribi³

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…The frequency of classical AZFa, AZFb and AZFc deletions with a molecular extension first defined by molecular deletion mapping Carvalho et al, 2003Carvalho et al, , 2004, although the data of Blanco et al (2000) and Paracchini et al (2000) suggests that this might not be true for AZFa deletions. Whether the different proximal border lines of the 'classical' AZFb deletions ( Figure 3D) are associated with some distinct Y haplogroups is not yet known.…”

Section: Mapping Of Azf Deletions In Men Of Different Y Haplogroupsmentioning

confidence: 99%

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Vogt

2005

Human Reproduction Update

116

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AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Yq11. With the benefit of the Y chromosome sequence, more rearrangements (deletions, duplications, inversions) inside and outside the classical AZF deletion intervals have been elucidated and intra-chromosomal non-allelic homologous recombinations (NAHRs) of repetitive sequence blocks have been identified as their major cause. These include duplications in AZFa, AZFb and AZFc and the partial AZFb and AZFc deletions of which some were summarized under the pseudonym 'gr/gr' deletions. At least some of these rearrangements are associated with distinct Y chromosomal haplogroups and are present with similar frequencies in fertile and infertile men. This suggests a functional redundancy of the AZFb/AZFc multi-copy genes. Alternatively, the functional contribution(s) of these genes to human spermatogenesis might be different in men of different Y haplogroups. That raises the question whether, the frequency of Y haplogroups with different AZF gene contents in distinct human populations leads to a male fertility status that varies between populations or whether, the presence of the multiple Y haplogroups implies a balancing selection via genomic deletion/amplification mechanisms.

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“…Kamp et al (16) reported that homologous recombination events between the two HERV15yq most likely caused the precise deletion of the LINE 1 element. This element is inserted within HERV15yq2, and the 12f2 marker polymorphism (21) is dependent on the presence or absence of the LINE1 sequence.…”

Section: Discussionmentioning

confidence: 99%

Study of azoospermia factor-a deletion caused by homologous recombination between the human endogenous retroviral elements and population-specific alleles in Japanese infertile males

Choi

Koh

Matsui

et al. 2008

Fertility and Sterility

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Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions

Cited by 29 publications

References 33 publications

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Study of azoospermia factor-a deletion caused by homologous recombination between the human endogenous retroviral elements and population-specific alleles in Japanese infertile males

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