Gene polymorphisms/mutations relevant to abnormal spermatogenesis

Nuti, Francesca; Krausz, Csilla

doi:10.1016/s1472-6483(10)60457-9

Cited by 139 publications

(113 citation statements)

References 96 publications

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“…[6][7][8] Although many efforts have been undertaken to identify new causative genes for human male infertility, no candidate gene has been recognised to be administrable in patient care so far. [9][10][11] In contrast, Bashamboo et al 12 found mutations in the NR5A1 gene (MIM 184757) encoding steroidogenic factor 1 (SF1) protein in a substantial fraction of 4% of infertile men (N ¼ 315) with unexplained reduced sperm counts and sperm concentrations below 1 million/ml. All of these were missense mutations leading to reduced protein function in vitro.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

et al. 2013

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The steroidogenic factor 1 (SF1) protein, encoded by the NR5A1 gene, plays a central role in gonadal development and steroidogenesis. Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency. Recently, heterozygous missense mutations were found in 4% of infertile men with unexplained reduced sperm counts living in France, but all mutation carriers were of non-Caucasian ancestry. Therefore, we performed a comprehensive NR5A1 sequence analysis in 488 well-characterised predominantly Caucasian patients with azoo-or severe oligozoospermia. Two-hundred-thirty-seven men with normal semen parameters were sequenced as controls. In addition to several synonymous variants of unclear pathogenicity, three heterozygous missense mutations predicted to be damaging to SF1 protein function were identified. The andrological phenotype in infertile but otherwise healthy mutation carriers seems variable. In conclusion, mutations altering SF1 protein function and causing spermatogenic failure are also found in men of German origin, but the prevalence seems markedly lower than in other populations.

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Section: Introductionmentioning

confidence: 99%

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

et al. 2013

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“…In addition to Y chromosome microdeletions and other less frequent mutations [6,12,14], several studies have proposed that there may be other factors, possibly associated with the environment and/or specific genetic background, that may affect the susceptibility to suffer spermatogenic defects [1,14,32,33,39,44,45].…”

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confidence: 99%

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Lardone

Marengo

Parada-Bustamante

et al. 2013

J Assist Reprod Genet

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Purpose To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions. Methods We studied 400 men, 218 with secretory azo/oligozoospermia (cases) and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis). After a complete testicular characterization (physical evaluation, hormonal and/or biopsy) peripheral blood was drawn to obtain DNA for Y chromosome microdeletions, AZFc-partial deletions and biallelic analysis by allele specific polymerase chain reaction (PCR) of the M3 (rs3894) single nucleotide polymorphism (SNP). Results Classical AZF microdeletions were found in 23 cases (Y-microdeleted). AZFc-partial deletions were observed in 10 cases (6 "gr/gr", 3 "b2/b3" and 1 "b1/b3") and 4 controls (4 "gr/gr"). The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %). No significant differences in the prevalence of AZFc-partial deletions were observed between cases and controls. We observed a significant higher proportion of the Q1a3a haplogroup in Y-microdeleted men compared to patients with spermatogenic failure without deletions and control men (P<0.01 and P<0.05, respectively by Bonferroni test). Among them, patients with AZFb deletions had an increased prevalence of the Q1a3a haplogroup compared to controls, cases without deletions and to those with complete or partial-AZFc deletions (P<0.01, Bonferroni test). Conclusions The Q1a3a South Amerindian lineage seems to increase the susceptibility to non AZFc microdeletions. On the other hand, in Chilean population the AZFc-partial deletions ("gr/gr", "b1/b3" and/or "b2/b3") does not seem to predispose to severe spermatogenic impairment.

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“…Male infertility is a complex disease resulting from multiple interactions between genetic and environmental factors. Recent studies have suggested that polymorphism of genes in autosomal chromosomes may also play an important role in male infertility [6,7]. As the most polymorphic genetic system of human genome, and high polymorphism of HLA complex has made it valuable for disease-association studies [19,20].…”

Section: Discussionmentioning

confidence: 99%

“…The genetic background of male infertility has long been a concern. Other than Y chromosome microdeletion, more recent studies have suggested that polymorphism of genes in autosomal chromosomes may also play an important role in male infertility [6,7].…”

Section: Introductionmentioning

confidence: 99%

Association study of HLA-B alleles with idiopathic male infertility in Han population of China

Zhou

Zhang

Wang

et al. 2011

J Assist Reprod Genet

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Purpose To investigate the distributions of HLA-B alleles and estimate their associations with idiopathic male infertility in Chinese Han population. Methods Polymerase chain reaction-sequence-based typing (PCR-SBT) method was used for DNA typing at HLA-B locus in 109 patients with idiopathic male infertility and 152 healthy controls in male Han population of Shaanxi Province, situated in northwestern China.

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Gene polymorphisms/mutations relevant to abnormal spermatogenesis

Cited by 139 publications

References 96 publications

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Association study of HLA-B alleles with idiopathic male infertility in Han population of China

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