Copy number variations in testicular maturation arrest

Halder, Ashutosh; Kumar, Prashant; Jain, Manish; Iyer, Venkateswaran K.

doi:10.1111/andr.12330

Cited by 19 publications

(17 citation statements)

References 74 publications

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“…(Lin et al, 2007) Casamonti, 2017). TSPY2 gene gains is also suspected as an aetiological factor with male infertility (Vodicka et al, 2007), which was observed in 23% of MA cases (Halder et al, 2017).…”

Section: Ta B L E 1 Hormone Resultsmentioning

confidence: 99%

“…(Lin et al, ). Halder et al detected copy number variations (CNVs) in 68 cases of testicular maturation arrest and the AZFc gain was observed in 8.8% of the cases (Halder, Kumar, Jain, & Iyer, ). TSPY1 and TSPY2 are testis‐specific expressed genes, which involves in spermatocyte proliferation and differentiation (Krausz & Casamonti, ).…”

Section: Discussionmentioning

confidence: 99%

“…TSPY1 and TSPY2 are testis‐specific expressed genes, which involves in spermatocyte proliferation and differentiation (Krausz & Casamonti, ). TSPY2 gene gains is also suspected as an aetiological factor with male infertility (Vodicka et al, ), which was observed in 23% of MA cases (Halder et al, ).…”

Section: Discussionmentioning

confidence: 99%

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A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

Dai

Zhang

et al. 2020

Andrologia

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Chromosome aberration is one of the common causes of male infertility. Isodicentric chromosome is a chromosomal aberration in which two arms of a chromosome are identical in morphology and genetics and connected by two centromeres. We firstly reported a case of infertile male with nonmosaic 46, X, idic (Y) (qter‐p11.31::p11.31‐qter) but with the sex‐determining region Y (SRY). The broken site is the chromosome Y (p11.31). The patients' clinical phenotype was azoospermia and short stature. Fluorescence in situ hybridisation (FISH), chromosomal microarray comparative genomic hybridisation (array CGH) and related molecular analysis were performed. Azoospermia of this case may be caused by the abnormal chromosome structure, which leads to abnormal chromosome synapsis in spermatogenesis. Loss of genes in PAR1 and gain of genes copies in azoospermia factor (AZF) region on the Y chromosome may also contribute to the pathogenesis of azoospermia.

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Section: Ta B L E 1 Hormone Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

Dai

Zhang

et al. 2020

Andrologia

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“…More precisely, it has been shown that alterations of spermatogenic cell differentiation may be associated with altered expression of HSFY in the testis, leading to deteriorated spermatogenesis processes [184]. Overall HSFY is another strong candidate for infertility issues, since (i) it is expressed in testes, especially in round spermatids [182,185], (ii) its protein levels are low in spermatogenic cell samples from patients showing maturation arrest [184,186], and (iii) one azoospermic patient has been described, who had a small AZFb deletion, including only the two copies of HSFY [183]. Nevertheless, this interpretation is not final and has been challenged by some groups [173].…”

Section: Yq Chromosome Microdeletions and The Azoospermia Factor (Azfmentioning

confidence: 99%

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Signore

Gulìa

Votino

et al. 2019

Genes

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The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30-40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome.

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“…The case was further investigated with Yq microdeletion (AZF) STS‐PCR for qualitative assessment of various targets (AZFa, AZFb, AZFc regions and SRY) as described earlier (Simoni, Bakker, & Krausz, ). Finally, the case was investigated by SNP microarray (HumanCytoSNP 12 v2.1 BeadChip; Catalog # WG3202101) to investigate patient's genome for chromosomal aneuploidy, polyploidy, segmental CNV and loss of heterozygosity as described before (Halder, Jain, & Kalsi, ; Halder, Kumar, Jain, & Iyer, ). Microarray data were analysed using Illumina KaryoStudio v 1.4 software.…”

Section: Case Descriptionmentioning

confidence: 99%

Molecular characterisation of a case of dicentric Y presented as nonobstructive azoospermia with testicular early maturation arrest

et al. 2017

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The dicentric Y chromosome is the most common cytogenetically visible structural abnormality of Y chromosome. The sites of break and fusion of dicentric Y are variable, but break and fusion at Yq12 (proximal to the pseudoautosomal region 2/PAR 2) is very rare. Dicentric Y chromosome is unstable during cell division and likely to generate chromosomal mosaicism. Here, we report a case of infertile male with nonmosaic 46,XY where chromosome Y was dicentric with break and fusion at Yq12 (proximal to PAR 2). Clinical presentation of the case was nonobstructive azoospermia due to early maturation arrest at the primary spermatocyte stage. Various molecular techniques such as FISH, STS-PCR and DNA microarray were carried out to characterise genetic defect leading to testicular maturation arrest in the patient. The break and fusion was found at Yq12 (proximal to PAR 2) and resulted in near total duplication of Y chromosome (excluding PAR 2). The reason for maturation arrest seems due to CNVs of PARs (gain in PAR 1 and loss of PAR 2) and azoospermia factors (gain).

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Copy number variations in testicular maturation arrest

Cited by 19 publications

References 74 publications

A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Molecular characterisation of a case of dicentric Y presented as nonobstructive azoospermia with testicular early maturation arrest

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