Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of 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.2014.07.042

Cited by 19 publications

(11 citation statements)

References 24 publications

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“…Based on analyses of gene copy deletions in the AZFc locus of infertile men, Machev et al [ 148 ] discriminated four types of DAZ - CDY1 partial deletions and found that only one deletion type, DAZ3/4-CDY1a , was associated with male infertility. In a similar study concomitant deletion of both DAZ and CDY1 copies in males predisposes them to azoospermia or severe oligozoospermia [ 140 , 149 ] deletion of CDY1b copy alone is also reported to be associated with oligo/azoospermia [ 150 ]. However, the fact that some men with CDY1 deletions (alone or in combination with DAZ ) are fertile/normozoopermic suggest that these genes are not indispensible for spermatogenesis [ 140 , 151 ].…”

Section: Chromodomain Protein Y Linked [ Cdy ]mentioning

confidence: 99%

Genetics of the human Y chromosome and its association with male infertility

Colaco

Modi

2018

Reprod Biol Endocrinol

223

177

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The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. Such deletions lead to copy number variation in genes of the Y chromosome resulting in male infertility. Three common Yq deletions that recur in infertile males are termed as AZF (Azoospermia Factor) microdeletions viz. AZFa, AZFb and AZFc. As estimated from data of nearly 40,000 Y chromosomes, the global prevalence of Yq microdeletions is 7.5% in infertile males; however the European infertile men are less susceptible to Yq microdeletions, the highest prevalence is in Americans and East Asian infertile men. In addition, partial deletions of the AZFc locus have been associated with infertility but the effect seems to be ethnicity dependent. Analysis of > 17,000 Y chromosomes from fertile and infertile men has revealed an association of gr/gr deletion with male infertility in Caucasians and Mongolian men, while the b2/b3 deletion is associated with male infertility in African and Dravidian men. Clinically, the screening for Yq microdeletions would aid the clinician in determining the cause of male infertility and decide a rational management strategy for the patient. As these deletions are transmitted to 100% of male offspring born through assisted reproduction, testing of Yq deletions will allow the couples to make an informed choice regarding the perpetuation of male infertility in future generations. With the emerging data on association of Yq deletions with testicular cancers and neuropsychiatric conditions long term follow-up data is urgently needed for infertile men harboring Yq deletions. If found so, the information will change the current the perspective of androgenetics from infertility and might have broad implication in men health.Electronic supplementary materialThe online version of this article (10.1186/s12958-018-0330-5) contains supplementary material, which is available to authorized users.

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Section: Chromodomain Protein Y Linked [ Cdy ]mentioning

confidence: 99%

Genetics of the human Y chromosome and its association with male infertility

Colaco

Modi

2018

Reprod Biol Endocrinol

223

177

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“…Human Chromodomain Y (CDY) genes are expressed specifically in the testis and implicated in male infertility. Although the Y-linked CDY genes are testis-specific, the autosomal Chromodomain Y like (CDYL) gene is ubiquitously expressed in many tissues (Lahn and Page, 1999;Ghorbel et al, 2014), probably regulated by sex hormones (Gill-Sharma et al, 2012). Functionally, CDYL has been reported involved in the regulation of cell migration.…”

Section: Introductionmentioning

confidence: 99%

Loss of CDYL Results in Suppression of CTNNB1 and Decreased Endometrial Receptivity

Zhou

Zhang

et al. 2020

Front. Cell Dev. Biol.

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“…Since histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein, this feature offers a plausible mechanism to account for spermatogenic failure in patients bearing deletions of the CDY genes [194]. A strong association exists between loss of the CDY1a sequence family variant and male infertility (p = 0.002); overall, this genetic alteration, due to gene deletion or conversion, may represent a major risk factor for male infertility [195]; a similar scenario has been described for CDY1b [196]. VCY, also known as Basic Protein Y 1 (BPY1), is a multi-copy gene family located on Yq11.221.…”

Section: Yq Chromosome Microdeletions and The Azoospermia Factor (Azfmentioning

confidence: 72%

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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Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men

Cited by 19 publications

References 24 publications

Genetics of the human Y chromosome and its association with male infertility

Genetics of the human Y chromosome and its association with male infertility

Loss of CDYL Results in Suppression of CTNNB1 and Decreased Endometrial Receptivity

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

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