Association of DAZL haplotypes with spermatogenic failure in infertile men

Teng, Yen-Ni; Lin, Yung Ming; Sun, Han; Hsu, Pei Yang; Chung, Chia Ling; Kuo, Pao Lin

doi:10.1016/j.fertnstert.2005.12.027

Cited by 28 publications

(19 citation statements)

References 26 publications

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“…In recent years, some studies on the association of DAZL polymorphisms and spermatogenesis have suggested that specific DAZL haplotypes arising from partly different SNP might correlate with sperm count or spermatogenic failure (Teng et al, 2006;. In the present study, we compared the distribution of the DAZL haplotypes between partial AZFcdeleted men with normozoospermic men and men with spermatogenic failure after observing the difference in the DAZL LD map between the 2 groups.…”

Section: Discussionmentioning

confidence: 95%

Phenotypic Expression of Partial AZFc Deletions Is Independent of the Variations in DAZL and BOULE in a Han Population

Chen

et al. 2010

Journal of Andrology

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DAZ on the Y chromosome and 2 autosomal ancestral genes DAZL and BOULE are suggested to represent functional conservation in spermatogenesis. The partial AZFc deletion, a common mutation of the Y chromosome, always involves 2 DAZ copies and represents a different spermatogenic phenotype in the populations studied. To investigate whether the variations in DAZL and BOULE influence partial AZFc deletion phenotype, the genotyping of 15 loci variations, including 4 known mutations and 11 single-nucleotide polymorphisms (SNPs), was carried out in 157 azoo-/oligzoospermic men and 57 normozoospermic men, both groups with partial AZFc deletions. The frequencies of the alleles, genotypes, and haplotypes of the variations were compared between the 2 groups. As a result, for 9 exonic variations in DAZL and BOULE, only T12A was observed in both groups with similar frequency, and I71V was identified in an azoospermic man with b2/ b3 deletion, whereas the rest were absent in the population. The distribution of DAZL haplotypes from 4 variations, including T12A, and of BOULE haplotypes from 2 SNPs was similar between men with normozoospermia and spermatogenic failure. Our findings indicate that the contribution of DAZL and BOULE variations to spermatogenic impairment in men with the DAZ defect is greatly limited, suggesting that expression of spermatogenic phenotypes of partial AZFc deletions is independent of the variations in DAZL and BOULE in the Han population.

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Section: Discussionmentioning

confidence: 95%

Phenotypic Expression of Partial AZFc Deletions Is Independent of the Variations in DAZL and BOULE in a Han Population

Chen

et al. 2010

Journal of Andrology

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“…A study by Tung et al identified four new mutations in the DAZL gene, but further studies are necessary to determine their effects (73). Tung et al also identified haplotypes in the DAZL gene related to sperm count (74), and Teng et al discovered haplotypes associated with failure of the spermatogenic process (75). The findings of these uncoordinated studies suggest that further investigation of the DAZL gene must be performed to elucidate the role that the gene plays in infertility.…”

Section: Tablementioning

confidence: 99%

The genetic causes of male factor infertility: A review

O’Brien

Varghese²,

Agarwal

2010

Fertility and Sterility

405

258

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“…Their hypothesis was supported by the finding that changes in DNA methylation pattern in mouse male germ cells can result in absence of vas deference or azoospermia [18] . The abnormalities of DAZL promoter DNA methylation pattern and its expression are closely associated with spermatogenesis disorders in patients with infertility [19][20][21]. In addition we analyzed DNMTs' levels in impaired cases vs. controls.…”

Section: Discussionmentioning

confidence: 99%

Association of the patterns of global DNA methylation and expression analysis of DNA methyltransferases in impaired spermatogenic patients

Jaiswal

Trivedi

Agrawal

et al. 2015

Asian Pacific Journal of Reproduction

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A B S T R A C TObjective: To analyze global DNA methylation along with DNA methyltransferases (DNMTs) expression at transcript level in patients with impaired spermatogenesis to dissect its role in pathophysiology of human male infertility. Method: The content of Global methylated cytosine ( m C) was determined using ELISA system (Imprint Methylated DNA Quantification Kit, Sigma-Aldrich) in 31 testicular biopsies showing impaired spermatogenesis and 8 with normal spermatogenesis. Realtime reverse transcription-polymerase chain reaction was done to analyze DNMTs (DNMT1, DNMT3A, DNMT3B and DNMT3L) mRNA levels in biopsies with different testicular phenotypes. Results: There was significant increase in levels of global methylation in different impaired testicular phenotypes as compared to normal. Expression analysis revealed significantly increased expression of DNMT1 and its positive correlation with global DNA methylation. Conclusion: In conclusion, increased levels of global methylation in impaired cases might be the one of the contributing factors for aberrant gene expression in infertile patients.

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Association of DAZL haplotypes with spermatogenic failure in infertile men

Cited by 28 publications

References 26 publications

Phenotypic Expression of Partial AZFc Deletions Is Independent of the Variations in DAZL and BOULE in a Han Population

Phenotypic Expression of Partial AZFc Deletions Is Independent of the Variations in DAZL and BOULE in a Han Population

The genetic causes of male factor infertility: A review

Association of the patterns of global DNA methylation and expression analysis of DNA methyltransferases in impaired spermatogenic patients

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