Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

Al-Ouqaili, Mushtak T.S.; Al‐Ani, Sahar K.; Alaany, Rehab; Al-Qaisi, Mohammed. N

doi:10.1002/jcla.24272

Cited by 11 publications

(7 citation statements)

References 30 publications

(43 reference statements)

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“…Our study demonstrated a 20% prevalence of microdeletions in Azoospermic patients (2/10) ( Table 3 ), resulting a greater frequency than those reported by other studies on azoospermic patients such as those of Akinsal et al in Turkey (4.7%) [ 19 ], Kim et al in Korea (14%) [ 20 ], Aknin-Seifer et al in France (8%) [ 21 ], Sen et al in India (3.4%) [ 22 ], Al-Ouqaili et al in Iraq (72.5%) [ 23 , 24 ]and Al-Qaisi et al in Iraq (62.5%) [ 24 ], among others. This fact must be carefully evaluated, since it can be affected by factors of sample size, type of evaluated population and/or criteria for patient selection.…”

Section: Discussionmentioning

confidence: 85%

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

Gavilan,

Vivar,

Núñez

et al. 2023

Heliyon

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Section: Discussionmentioning

confidence: 85%

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

Gavilan,

Vivar,

Núñez

et al. 2023

Heliyon

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“…Y chromosomal microdeletions have been identified in a varying number of infertile males around the world [ 31 ]. If AZF microdeletions are found in a patient’s primary screening, further investigation is advised in the AZFa subregion [ 19 , 32 ]. Two genes, including ubiquitin specific peptidase 9 Y-linked ( USP9Y ) and DBY , also known as DDX3Y , are present in AZFa.…”

Section: Discussionmentioning

confidence: 99%

“…Microdeletions in this region cause male infertility and spermatogenetic abnormalities. The human Y chromosome is essential for the development and function of male germ cells as well as the determination of the human sex [ 19 ]. The proximal long arm of the Y chromosome (Yq) is where the AZFa subregion is found [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Jebur,

Dastmalchi,

Banamolaei

et al. 2023

Clin Exp Reprod Med

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Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

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“…These genes are essential for the process of normal spermatogenesis. The AZFa locus includes a set of candidate genes, namely, ubiquitin-specific peptidase 9, Y-linked (USP9Y), dead box on Y (DBY), and ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY) [131].…”

Section: Genetic Causes Of Spermatogenesis Disturbances 41 Microdelet...mentioning

confidence: 99%

Environmental and Genetic Traffic in the Journey from Sperm to Offspring

Sengupta,

Dutta,

Liew

et al. 2023

Biomolecules

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Recent advancements in the understanding of how sperm develop into offspring have shown complex interactions between environmental influences and genetic factors. The past decade, marked by a research surge, has not only highlighted the profound impact of paternal contributions on fertility and reproductive outcomes but also revolutionized our comprehension by unveiling how parental factors sculpt traits in successive generations through mechanisms that extend beyond traditional inheritance patterns. Studies have shown that offspring are more susceptible to environmental factors, especially during critical phases of growth. While these factors are broadly detrimental to health, their effects are especially acute during these periods. Moving beyond the immutable nature of the genome, the epigenetic profile of cells emerges as a dynamic architecture. This flexibility renders it susceptible to environmental disruptions. The primary objective of this review is to shed light on the diverse processes through which environmental agents affect male reproductive capacity. Additionally, it explores the consequences of paternal environmental interactions, demonstrating how interactions can reverberate in the offspring. It encompasses direct genetic changes as well as a broad spectrum of epigenetic adaptations. By consolidating current empirically supported research, it offers an exhaustive perspective on the interwoven trajectories of the environment, genetics, and epigenetics in the elaborate transition from sperm to offspring.

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Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

Abstract: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Cited by 11 publications

References 30 publications

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

Environmental and Genetic Traffic in the Journey from Sperm to Offspring

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