Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men

Ambulkar, Prafulla S; Chuadhary, Ajay; Waghmare, Jwalant E; Tarnekar, Aaditya; Pal, Asoke K

doi:10.7860/jcdr/2015/15249.6515

Cited by 10 publications

(9 citation statements)

References 19 publications

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“…In agreement with the study carried out by Saliminejad and Khorshid (), the current study estimated 4.72% rate of Y microdeletions in azoospermic and severe oligozoospermic infertile men (Saliminejad & Khorshid, ). Among recent Iranian studies on azoospermia, our results showed a lower frequency of microdeletions and also the frequency was lower in comparison with Indian reports (Ambulkar, Chuadhary, Waghmare, Tarnekar, & Pal, ; Ambulkar et al., ; Mahanta, Gogoi, Roy, Bhattacharyya, & Sharma, ; Mirfakhraie et al., ; Totonchi et al., ).…”

Section: Discussioncontrasting

confidence: 48%

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility

Zadegan

Bagheri²,

Joudaki³

et al. 2017

Andrologia

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Azoospermia factor (AZF) genes are involved in spermatogenesis. Deletions in the region of these genes have been recognised as a major genetic cause of infertility due to defects in spermatogenesis. Klinefelter syndrome (KS) is the other main cause of male infertility. This study was performed to establish a novel method for the detection of genetic causes of infertility in males and also to investigate the prevalence, extent and position of Y chromosome microdeletions in Iranian infertile men. We developed a newly designed panel of fluorescent multiplex-PCR method to amplify 20 markers (15 sequence-tagged sites (STSs) markers which are placed in the Y chromosome AZF region, 2 short tandem repeats (STRs) and 3 segmental duplications (SDs)). This multifunctional method is for the simultaneous detection of Y chromosome microdeletions and KS. Among 149 studied infertile men, one was detected to suffer from KS and seven (4.7%) were detected with the presence of one or more deleted STS loci. The main cause of infertility for the remaining patients would be nongenetic factors. This strategy is represented as a fast and accurate method to determine the frequencies of different AZF microdeletions which are suitable for use in clinical purposes.

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Section: Discussioncontrasting

confidence: 48%

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility

Zadegan

Bagheri²,

Joudaki³

et al. 2017

Andrologia

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“…BOULE is widely conserved across metazoa from sea anemones through humans, while DAZL is limited to vertebrates, and DAZ is further limited to Old World monkeys and apes ( Saxena et al, 1996 ; Xu et al, 2001 ). In humans, deletions encompassing the Y chromosome’s Azoospermia Factor C ( AZFc ) region, which contains all four copies of the DAZ gene, are among the most common known genetic causes of spermatogenic failure, accounting for 10% of cases of azoospermia (no sperm detected in semen) or severe oligozoospermia (abnormally low number of sperm detected in semen) in the absence of any physical obstruction ( Ambulkar et al, 2015 ; Fu et al, 2012 ; Girardi et al, 1997 ; Mascarenhas et al, 2016 ; Nakahori et al, 1996 ; Reijo et al, 1995 ; Simoni et al, 1997 ; Vogt et al, 1996 ). However, the mechanistic basis for the DAZ family’s role in spermatogenesis remains poorly defined.…”

Section: Introductionmentioning

confidence: 99%

DAZL mediates a broad translational program regulating expansion and differentiation of spermatogonial progenitors

Mikedis

Fan

Nicholls

et al. 2020

eLife

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Fertility across metazoa requires the germline-specific DAZ family of RNA-binding proteins. Here we examine whether DAZL directly regulates progenitor spermatogonia using a conditional genetic mouse model and in vivo biochemical approaches combined with chemical synchronization of spermatogenesis. We find that the absence of Dazl impairs both expansion and differentiation of the spermatogonial progenitor population. In undifferentiated spermatogonia, DAZL binds the 3' UTRs of ~2,500 protein-coding genes. Some targets are known regulators of spermatogonial proliferation and differentiation while others are broadly expressed, dosage-sensitive factors that control transcription and RNA metabolism. DAZL binds 3' UTR sites conserved across vertebrates at a UGUU(U/A) motif. By assessing ribosome occupancy in undifferentiated spermatogonia, we find that DAZL increases translation of its targets. In total, DAZL orchestrates a broad translational program that amplifies protein levels of key spermatogonial and gene regulatory factors to promote the expansion and differentiation of progenitor spermatogonia.

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“…Skaletsky et al (2003) was reported that reduction of copy number to have an increased risk in infertility (Skaletsky et al, 2003;Sen et al, 2015). Deletion of AZFa and AZFb of Y chromosome can cause azoospermia or severe oligozoospermia (Vogt et al, 1996) and these results showed that all AZFa and AZFb microdeletions were present in only azoospermic infertile males (Mitra et al, 2008;Ambulkar et al, 2015).…”

Section: Discussionmentioning

confidence: 88%

“…Intra cytoplasmic sperm injection (ICSI) is prone for transmission of microdeletions to their offspring (Silber, 2011). Hence, STS-PCR based Y chromosome microdeletions screening will provide counselling to infertile couple effectively, regard to the birth of an infertile male offspring (Kuchukaslan et al, 2013;Ambulkar et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Male infertility: screening of azoospermia factor (azf) microdeletion in idiopathic infertile men

Ambulkar¹,

Pande²

2017

JEBAS

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Genetic factors cause about 15% of male infertility and microdeletions of Y chromosome is one of the genetic causes in idiopathic infertile men. Azoospermia factors (AZFa, AZFb, and AZFc) on Yq long arm are most important for spermatogenesis. For analysis of microdeletions in the AZF regions by sequence-tagged-site (STS) PCR is important screening method for infertility. An attempt has been made to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermic and oligozoospermic subjects. Total 160 subjects (90 oligozoospermia and 70 azoospermia) and 50 control subjects were analyzed in this study. DNA samples were analyzed for microdeletions of Y chromosome by PCR-screening of 18 STS markers from different locus of the AZFa, AZFb, AZFc on Yq and SRY on Yp. The semen analysis was done and infertile men showing normal karyotype only were included in the study. Plasma follicle stimulating hormone (FSH) and leutinizating hormone concentrations were determined to rule out hormonal abnormality. Out of 160 analyzed cases, 17 (10.6%) subjects showed partial deletion of AZF regions, of which deletion in AZFc region was the most common (58.8%) and it was followed by AZFb and AZFa. The four subjects were shown two or more STS primer deleted sites and overall frequency of Y chromosome microdeletion in our subjects is 10.6%. The sites and sizes of deletions varied among patients. No deletions observed in control subjects. The varied frequencies of Y microdeletions are reported in infertile men in Indian population. From the results of this study it can be suggest that the frequency of deletions may be affected by study sample size, selection criteria of subjects and different geographical region. So, the screening of Y microdeletions is necessary along with the chromosomal analysis in case of infertile men.

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Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men

Abstract: The prevalence of Y chromosome microdeletions in azoospermic men was 12.8% in this geographical region. Klinefelter's syndrome is important cause in male infertility. So, the screening of Y microdeletions is essential.

Cited by 10 publications

References 19 publications

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility

DAZL mediates a broad translational program regulating expansion and differentiation of spermatogonial progenitors

Male infertility: screening of azoospermia factor (azf) microdeletion in idiopathic infertile men

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