A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han

Yeng Ni Teng, Yi Ping Chang, Ta-Chien Tseng, Po Hsiu Kuo, I. Wen Lee, Maw Sheng Lee, Pao-Lin Kuo

Research output: Contribution to journalArticle

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Abstract

BACKGROUND Deleted in AZoospermia-like (DAZL) is an autosomal homologue of Y chromosome-linked DAZ gene located on chromosome 3p24. DAZL is only expressed in the gonads and is critical to germ cell development in different species. However, the regulation of DAZL has not been explored. METHODS Reporter assays, electrophoretic mobility shift assays, supershift assays and bisulfate sequencing were used to identify the core promoter region of DAZL. Sequence analysis was used to identify single-nucleotide polymorphisms (SNPs) in the promoter region. A total of 337 infertile men with abnormal semen parameters and 203 fertile men with normal semen parameters were subjected to sequence analysis of the DAZL promoter region. RESULTS The DAZL gene core promoter is located 1 kb upstream of the transcription start site. Three SNPs (-792G>A, -669A>C and -309T>C) were identified in our population. Of these three SNPs, -792G>A was more prevalent in the infertile men (P 0.0005). Quantitative analysis revealed that genotypes of -792G>A had effects on sperm concentration (P 0.0025) and motility (P 1.5 × 107). The G to A substitution was associated with decreased binding of the nuclear respiratory factor-1 (NRF-1) to the promoter region and decreased reporter gene activity. CONCLUSION We have identified the core promoter of the human DAZL gene. We also provide preliminary evidence for the role of a novel SNP of the DAZL gene promoter in human spermatogenic failure.

Original languageEnglish
Pages (from-to)2857-2865
Number of pages9
JournalHuman Reproduction
Volume27
Issue number9
DOIs
Publication statusPublished - 2012 Jan 1

Fingerprint

Azoospermia
Single Nucleotide Polymorphism
Genetic Promoter Regions
Genes
Semen
Sequence Analysis
Nuclear Respiratory Factor 1
Y Chromosome
Transcription Initiation Site
Gonads
Electrophoretic Mobility Shift Assay
Reporter Genes
Germ Cells
Spermatozoa
Chromosomes
Genotype

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynaecology

Cite this

Teng, Yeng Ni ; Chang, Yi Ping ; Tseng, Ta-Chien ; Kuo, Po Hsiu ; Lee, I. Wen ; Lee, Maw Sheng ; Kuo, Pao-Lin. / A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han. In: Human Reproduction. 2012 ; Vol. 27, No. 9. pp. 2857-2865.
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abstract = "BACKGROUND Deleted in AZoospermia-like (DAZL) is an autosomal homologue of Y chromosome-linked DAZ gene located on chromosome 3p24. DAZL is only expressed in the gonads and is critical to germ cell development in different species. However, the regulation of DAZL has not been explored. METHODS Reporter assays, electrophoretic mobility shift assays, supershift assays and bisulfate sequencing were used to identify the core promoter region of DAZL. Sequence analysis was used to identify single-nucleotide polymorphisms (SNPs) in the promoter region. A total of 337 infertile men with abnormal semen parameters and 203 fertile men with normal semen parameters were subjected to sequence analysis of the DAZL promoter region. RESULTS The DAZL gene core promoter is located 1 kb upstream of the transcription start site. Three SNPs (-792G>A, -669A>C and -309T>C) were identified in our population. Of these three SNPs, -792G>A was more prevalent in the infertile men (P 0.0005). Quantitative analysis revealed that genotypes of -792G>A had effects on sperm concentration (P 0.0025) and motility (P 1.5 × 107). The G to A substitution was associated with decreased binding of the nuclear respiratory factor-1 (NRF-1) to the promoter region and decreased reporter gene activity. CONCLUSION We have identified the core promoter of the human DAZL gene. We also provide preliminary evidence for the role of a novel SNP of the DAZL gene promoter in human spermatogenic failure.",
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A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han. / Teng, Yeng Ni; Chang, Yi Ping; Tseng, Ta-Chien; Kuo, Po Hsiu; Lee, I. Wen; Lee, Maw Sheng; Kuo, Pao-Lin.

In: Human Reproduction, Vol. 27, No. 9, 01.01.2012, p. 2857-2865.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han

AU - Teng, Yeng Ni

AU - Chang, Yi Ping

AU - Tseng, Ta-Chien

AU - Kuo, Po Hsiu

AU - Lee, I. Wen

AU - Lee, Maw Sheng

AU - Kuo, Pao-Lin

PY - 2012/1/1

Y1 - 2012/1/1

N2 - BACKGROUND Deleted in AZoospermia-like (DAZL) is an autosomal homologue of Y chromosome-linked DAZ gene located on chromosome 3p24. DAZL is only expressed in the gonads and is critical to germ cell development in different species. However, the regulation of DAZL has not been explored. METHODS Reporter assays, electrophoretic mobility shift assays, supershift assays and bisulfate sequencing were used to identify the core promoter region of DAZL. Sequence analysis was used to identify single-nucleotide polymorphisms (SNPs) in the promoter region. A total of 337 infertile men with abnormal semen parameters and 203 fertile men with normal semen parameters were subjected to sequence analysis of the DAZL promoter region. RESULTS The DAZL gene core promoter is located 1 kb upstream of the transcription start site. Three SNPs (-792G>A, -669A>C and -309T>C) were identified in our population. Of these three SNPs, -792G>A was more prevalent in the infertile men (P 0.0005). Quantitative analysis revealed that genotypes of -792G>A had effects on sperm concentration (P 0.0025) and motility (P 1.5 × 107). The G to A substitution was associated with decreased binding of the nuclear respiratory factor-1 (NRF-1) to the promoter region and decreased reporter gene activity. CONCLUSION We have identified the core promoter of the human DAZL gene. We also provide preliminary evidence for the role of a novel SNP of the DAZL gene promoter in human spermatogenic failure.

AB - BACKGROUND Deleted in AZoospermia-like (DAZL) is an autosomal homologue of Y chromosome-linked DAZ gene located on chromosome 3p24. DAZL is only expressed in the gonads and is critical to germ cell development in different species. However, the regulation of DAZL has not been explored. METHODS Reporter assays, electrophoretic mobility shift assays, supershift assays and bisulfate sequencing were used to identify the core promoter region of DAZL. Sequence analysis was used to identify single-nucleotide polymorphisms (SNPs) in the promoter region. A total of 337 infertile men with abnormal semen parameters and 203 fertile men with normal semen parameters were subjected to sequence analysis of the DAZL promoter region. RESULTS The DAZL gene core promoter is located 1 kb upstream of the transcription start site. Three SNPs (-792G>A, -669A>C and -309T>C) were identified in our population. Of these three SNPs, -792G>A was more prevalent in the infertile men (P 0.0005). Quantitative analysis revealed that genotypes of -792G>A had effects on sperm concentration (P 0.0025) and motility (P 1.5 × 107). The G to A substitution was associated with decreased binding of the nuclear respiratory factor-1 (NRF-1) to the promoter region and decreased reporter gene activity. CONCLUSION We have identified the core promoter of the human DAZL gene. We also provide preliminary evidence for the role of a novel SNP of the DAZL gene promoter in human spermatogenic failure.

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DO - 10.1093/humrep/des227

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