Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men

Ghorbel, Myriam; Baklouti-Gargouri, Siwar; Keskes, Rim; Chakroun, N.; Sellami, Afifa; Fakhfakh, Faïza; Ammar-Keskes, Leila

doi:10.1016/j.gene.2014.05.061

Cited by 8 publications

(6 citation statements)

References 22 publications

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“…It appears that combinations of deletions of DAZ does not always preclude spermatogenesis. Fernandes et al (71) report DAZ1 and DAZ2 co-deletion was the cause of five cases of severe oligozoospermia and they later report that partial deletions of AZFc involving DAZ3 and DAZ4 co-deletions are found in fertile normozoospermic men (72,73). This observation supports our prior comments that partial deletions of AZFc cannot be compared to clinical observations for complete AZFc deletions.…”

Section: Azfcsupporting

confidence: 71%

Histology and sperm retrieval among men with Y chromosome microdeletions

2021

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In this review of Y chromosome microdeletions, azoospermia factor (AZF) deletion subtypes, histological features and microTESE sperm retrieval rates are summarized after a systematic literature review. PubMed was searched and papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Approximately half of infertile couples have a male factor contributing to their infertility. One of the most common genetic etiologies are Y chromosome microdeletions. Men with Y chromosome microdeletions may have rare sperm available in the ejaculate or undergo surgical sperm retrieval and subsequent intracytoplasmic sperm injection to produce offspring.Azoospermia or severe oligozoospermia are the most common semen analysis findings found in men with Y chromosome microdeletions, associated with impaired spermatogenesis. Men with complete deletions of azoospermia factor a, b, or a combination of any loci have severely impaired spermatogenesis and are nearly always azoospermic with no sperm retrievable from the testis. Deletions of the azoospermia factor c or d often have sperm production and the highest likelihood of a successful sperm retrieval. In men with AZFc deletions, histologically, 46% of men demonstrate Sertoli cell only syndrome on biopsy, whereas 38.2% have maturation arrest and 15.7% have hypospermatogenesis. The microTESE sperm retrieval rates in AZFcdeleted men range from 13-100% based on the 32 studies analyzed, with a mean sperm retrieval rate of 47%.

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Section: Azfcsupporting

confidence: 71%

Histology and sperm retrieval among men with Y chromosome microdeletions

2021

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“…Four DAZ gene copies are located on the Y chromosome in palindromic duplications and are expressed in the human testis with highly polymorphic expression [ 10 ]. Deletion of DAZ genes in humans has been correlated with male infertility in both a South Chinese [ 11 ] and a Tunisian population [ 12 ]. Similarly, RPS4Y2 lies within the AZFb locus, also suggesting a link with male infertility [ 13 ].…”

Section: Resultsmentioning

confidence: 99%

Errors in RNA-Seq quantification affect genes of relevance to human disease

2015

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BackgroundRNA-Seq has emerged as the standard for measuring gene expression and is an important technique often used in studies of human disease. Gene expression quantification involves comparison of the sequenced reads to a known genomic or transcriptomic reference. The accuracy of that quantification relies on there being enough unique information in the reads to enable bioinformatics tools to accurately assign the reads to the correct gene.ResultsWe apply 12 common methods to estimate gene expression from RNA-Seq data and show that there are hundreds of genes whose expression is underestimated by one or more of those methods. Many of these genes have been implicated in human disease, and we describe their roles. We go on to propose a two-stage analysis of RNA-Seq data in which multi-mapped or ambiguous reads can instead be uniquely assigned to groups of genes. We apply this method to a recently published mouse cancer study, and demonstrate that we can extract relevant biological signal from data that would otherwise have been discarded.ConclusionsFor hundreds of genes in the human genome, RNA-Seq is unable to measure expression accurately. These genes are enriched for gene families, and many of them have been implicated in human disease. We show that it is possible to use data that may otherwise have been discarded to measure group-level expression, and that such data contains biologically relevant information.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-015-0734-x) contains supplementary material, which is available to authorized users.

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“…Infertile males with loss of DAZ seem to be highly predisposed to azoospermia and oligozoospermia ( Al-Janabi et al 2020 ). Although, the presence of DAZ gene copies (DAZ2 or DAZ4) deletions was observed in some fertile men, the deletion of both copies were more frequent in infertile men with oligospermia ( Ghorbel et al 2014 ). This indicate that the concurrent deletion of DAZ2 and DAZ4 gene copies is associated with male infertility, and that oligospermia seems to be promoted by deleting DAZ4 copy ( Ghorbel et al 2014 , Al-Janabi et al 2020 ).…”

Section: Y Chromone Microdeletionmentioning

confidence: 97%

The genetic causes of male infertility: a Middle East and North Africa perspective

et al. 2022

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Male infertility is attributable to 60% of total infertility cases and about 30-50% of these cases remain idiopathic. In the Middle East and North Africa region (MENA), male infertility affects about 22.6% of men of reproductive age. Male infertility is caused by a variety of factors, including endocrine disruption, exposure to toxins, lifestyle, genetic and epigenetic modifications. Genetic modifications, including chromosomal abnormalities, chromosomal rearrangements, Y chromosome microdeletions and single-gene mutations, explain for about 10-15% of infertility cases. Since genetic aberration is a key player in the pathogenesis of male infertility, it is important to explore the impact in the MENA region due to the high incidence of male infertility. Therefore, the current study aims to systematically analyse the literature regarding the impact and common causes of male infertility in the MENA region. To achieve this aim, a comprehensive literature search was performed on PubMed, Google Scholar, and Science Direct databases. Following the search, a total of 126 articles was retrieved, of which 12 were duplicates and another 69 articles did not meet the inclusion criteria, totaling the exclusion of 81 articles. Studies excluded were those that had patient populations originating outside the MENA region, review articles, non-English written articles, or studies where the patient population was under 18 years of age. Findings showed that the frequent genetic aberration leading to male infertility in these regions include Y chromosome microdeletions, gene polymorphisms or copy number variations, mitochondrial microdeletions and other genetic deletions or mutations. In lieu of this, diverse clinical genetic tests should be made available for the proper diagnosis of male infertility.

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Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men

Cited by 8 publications

References 22 publications

Histology and sperm retrieval among men with Y chromosome microdeletions

Histology and sperm retrieval among men with Y chromosome microdeletions

Errors in RNA-Seq quantification affect genes of relevance to human disease

The genetic causes of male infertility: a Middle East and North Africa perspective

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