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

Genes ◽  
2019 ◽  
Vol 11 (1) ◽  
pp. 40 ◽  
Author(s):  
Fabrizio Signore ◽  
Caterina Gulìa ◽  
Raffaella Votino ◽  
Vincenzo De Leo ◽  
Simona Zaami ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Significant Proportion ◽  
Copy Number Variations ◽  
World Health ◽  
Idiopathic Male Infertility ◽  
Negative Results ◽  
Pubmed Database ◽  
Structural Anomalies

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.

Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population

Andrologia ◽  
2021 ◽  
Author(s):  
Nemanja Vučić ◽  
Nevena Kotarac ◽  
Suzana Matijašević ◽  
Lana Radenković ◽  
Ivan Vuković ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Idiopathic Male Infertility ◽  
Azf Region

scholarly journals Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility

2012 ◽  
Vol 3 (3) ◽  
pp. 69-77 ◽  
Author(s):  
Alaaeldin Gamal Fayez ◽  
Amr Saad El-Sayed ◽  
Mohamed Ali El-Desouky ◽  
Waheba Ahmed Zarouk ◽  
Alaa Khalil Kamel ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Copy Number Variations ◽  
Infertile Men ◽  
Egyptian Patients ◽  
Daz Gene

ABSTRACT Men with severe infertility suffer a high risk of Y chromosome deletion, hence screening for these cases is recommended prior to treatment with assisted reproduction. Our study aimed to investigate and detect the azoospermia factor (AZF) region deletion, rearrangement and deleted azoospermia (DAZ) gene copy number variations in Egyptian azoospermic infertile men. This was tested on 54 Egyptian nonobstructive azoospermic (NOA) infertile men, with age ranged from 21 to 45 years (mean: 31.4 ± 6.1 years), by STS ± multiplex PCR using a set of 14 sequence tagged sites (STSs) from three different regions of the Y chromosome: AZFa, AZFb, AZFc and sY587/DraI PCRRFLP assay to determine DAZ copy number variations. The results revealed a significant prevalence of AZFc subtypes deletion and reduced DAZ gene dosage in Egyptian azoospermic cases affecting Y chromosome deletions. To our knowledge, this study is the first one to investigate AZFc subtypes deletion and DAZ gene dosage in Egyptian infertile men. We concluded that DAZ genes deletion is a risk factor for spermatogenic damage. How to cite this article Fayez AG, El-Sayed AS, El-Desouky MA, Zarouk WA, Kamel AK, Fahmi IM, El-Ruby MO. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility. Int J Infertility Fetal Med 2012;3(3):69-77.

scholarly journals Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes

Animals ◽  
2019 ◽  
Vol 10 (1) ◽  
pp. 31
Author(s):  
Ting Sun ◽  
Quratulain Hanif ◽  
Hong Chen ◽  
Chuzhao Lei ◽  
Ruihua Dang
Keyword(s):  
Y Chromosome ◽  
Copy Number ◽  
Water Buffalo ◽  
Single Copy ◽  
Copy Number Variations ◽  
Tetratricopeptide Repeat ◽  
Dead Box ◽  
Complex Phenotypes ◽  
Swamp Buffaloes ◽  
Number Variation

Copy number variation (CNV), a significant source of genetic diversity in the mammalian Y chromosome, is associated with the development of many complex phenotypes, such as spermatogenesis and male fertility. The contribution of Y-linked CNVs has been studied in various species, however, water buffalo has not been explored in this area and the genetic information still remains unknown. The aim of the current study was to investigate the CNVs of four Y-linked genes, including, sex determining Region of Y-Chromosome (SRY), ubiquitously transcribed tetratricopeptide repeat gene protein on the chromosome Y (UTY), DEAD-box helicase 3 Y-linked (DDX3Y, also known as DBY), and oral-facial-digital syndrome 1 Y-linked (OFD1Y) in 254 swamp buffaloes from 15 populations distributed across China, Vietnam, and Laos using quantitative real-time PCR (qPCR). Our results revealed the prevalence of a single-copy UTY gene in buffaloes. The DBY and OFD1Y represented CNVs among and within different buffalo breeds. The SRY showed CNVs only in Vietnamese and Laotian buffaloes. In conclusion, this study indicated that DBY, OFD1Y, and SRY showed CNVs, while the UTY was a single-copy gene in swamp buffaloes.

A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters

2019 ◽  
Vol 34 (3) ◽  
pp. 414-423 ◽  
Author(s):  
Tao Luo ◽  
Hou-yang Chen ◽  
Qian-xing Zou ◽  
Tao Wang ◽  
Yi-min Cheng ◽  
...  
Keyword(s):  
Male Infertility ◽  
Copy Number Variation ◽  
Copy Number ◽  
Semen Parameters ◽  
Idiopathic Male Infertility ◽  
Number Variation

scholarly journals The Y chromosome-linked copy number variations and male fertility

2011 ◽  
Vol 34 (5) ◽  
pp. 376-382 ◽  
Author(s):  
C. Krausz ◽  
C. Chianese ◽  
C. Giachini ◽  
E. Guarducci ◽  
I. Laface ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Male Fertility ◽  
Copy Number ◽  
Copy Number Variations

scholarly journals Eight Y chromosome genes show copy number variations in horses

2018 ◽  
Vol 61 (3) ◽  
pp. 263-270
Author(s):  
Haoyuan Han ◽  
Xin Zhang ◽  
Xiaocheng Zhao ◽  
Xiaoting Xia ◽  
Chuzhao Lei ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Copy Number ◽  
Distribution Patterns ◽  
Single Copy ◽  
Copy Number Variations ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
Specific Transcript ◽  
Copy Numbers ◽  
The Impact

Abstract. Copy number variations (CNVs), which represent a significant source of genetic diversity on the Y chromosome in mammals, have been shown to be associated with the development of many complex phenotypes, such as reproduction and male fertility. The occurrence of CNVs has been confirmed on the Y chromosome in horses. However, the copy numbers (CNs) of Equus caballus Y chromosome (ECAY) genes are largely unknown. To demonstrate the copy number variations of Y chromosome genes in horses, the quantitative real-time polymerase chain reaction (qPCR) method was applied to measure the CNVs of the eukaryotic translation initiation factor 1A Y (EIF1AY), equine testis-specific transcript on Y 1 (ETSTY1), equine testis-specific transcript on Y 4 (ETSTY4), equine testis-specific transcript on Y 5 (ETSTY5), equine transcript Y4 (ETY4), ubiquitin activating enzyme Y (UBE1Y), sex determining region Y (SRY), and inverted repeat 2 Y (YIR2) across 14 Chinese domestic horse breeds in this study. Our results revealed that these eight genes were multi-copy; furthermore, some of the well acknowledged single-copy genes such as SRY and EIF1AY were found to be multi-copy in this research. The median copy numbers (MCNs) varied among different breeds for the same gene. The CNVs of Y chromosome genes showed different distribution patterns among Chinese horse breeds, indicating the impact of natural selection on copy numbers. Our results will provide fundamental information for future functional studies.

scholarly journals Phenome-wide burden of copy number variation in UK Biobank

2019 ◽  
Author(s):  
Matthew Aguirre ◽  
Manuel Rivas ◽  
James Priest
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Significant Proportion ◽  
High Body Mass Index ◽  
Population Level ◽  
Copy Number Variations ◽  
Uk Biobank ◽  
Number Variation ◽  
Artery Disease ◽  
The Uk

AbstractCopy number variations (CNV) represent a significant proportion of the genetic differences between individuals and many CNVs associate causally with syndromic disease and clinical outcomes. Here, we characterize the landscape of copy number variation and their phenome-wide effects in a sample of 472,228 array-genotyped individuals from the UK Biobank. In addition to population-level selection effects against genic loci conferring high-mortality, we describe genetic burden from syndromic and previously uncharacterized CNV loci across nearly 2,000 quantitative and dichotomous traits, with separate analyses for common and rare classes of variation. Specifically, we highlight the effects of CNVs at two well-known syndromic loci 16p11.2 and 22q11.2, as well as novel associations at 9p23, in the context of acute coronary artery disease and high body mass index. Our data constitute a deeply contextualized portrait of population-wide burden of copy number variation, as well as a series of known and novel dosage-mediated genic associations across the medical phenome.

scholarly journals Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients

2022 ◽  
Vol 12 (1) ◽  
Author(s):  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Male Infertility ◽  
Genetic Counselling ◽  
Copy Number ◽  
Read Depth ◽  
Copy Number Variations ◽  
Genomic Region ◽  
High Prevalence ◽  
Homozygous Deletions ◽  
Next Generation Sequencing Ngs

AbstractThe STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss. One of the unique characteristics of STRC-associated hearing loss is the high prevalence of long deletions or copy number variations observed on chromosome 15q15.3. Further, the deletion of chromosome 15q15.3 from STRC to CATSPER2 is also known to be a genetic cause of deafness infertility syndrome (DIS), which is associated with not only hearing loss but also male infertility, as CATSPER2 plays crucial roles in sperm motility. Thus, information regarding the deletion range for each patient is important to the provision of appropriate genetic counselling for hearing loss and male infertility. In the present study, we performed next-generation sequencing (NGS) analysis for 9956 Japanese hearing loss patients and analyzed copy number variations in the STRC gene based on NGS read depth data. In addition, we performed Multiplex Ligation-dependent Probe Amplification analysis to determine the deletion range including the PPIP5K1, CKMT1B, STRC and CATSPER2 genomic region to estimate the prevalence of the STRC-CATSPER deletion, which is causative for DIS among the STRC-associated hearing loss patients. As a result, we identified 276 cases with STRC-associated hearing loss. The prevalence of STRC-associated hearing loss in Japanese hearing loss patients was 2.77% (276/9956). In addition, 77.1% of cases with STRC homozygous deletions carried a two copy loss of the entire CKMT1B-STRC-CATSPER2 gene region. This information will be useful for the provision of more appropriate genetic counselling regarding hearing loss and male infertility for the patients with a STRC deletion.

Copy number variation associated with meiotic arrest in idiopathic male infertility

2015 ◽  
Vol 103 (1) ◽  
pp. 214-219 ◽  
Author(s):  
Stefanie Eggers ◽  
Kathleen D. DeBoer ◽  
Jocelyn van den Bergen ◽  
Lavinia Gordon ◽  
Stefan J. White ◽  
...  
Keyword(s):  
Male Infertility ◽  
Copy Number Variation ◽  
Copy Number ◽  
Meiotic Arrest ◽  
Idiopathic Male Infertility ◽  
Number Variation
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