Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

Castro, Andrea; Rodrı́guez, Fernando; Flórez, Martha; López, Patricia; Curotto, Bianca; Martínez, Daniela; Maturana, Andrés D.; Lardone, María Cecilia; Palma, C.; Mericq, Verónica; Ebensperger, Mauricio; Cassorla, Fernando

doi:10.1093/humrep/dew333

Cited by 22 publications

(23 citation statements)

References 47 publications

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“…Since depression and other neuropsychiatric disorders are associated with decreased hippocampal neurogenesis (Boulle et al, 2014 ; Levone et al, 2015 ), we anticipate that this might possibly play a major role in making the XY RIII qdel mice more susceptible to stress. Our findings are supported by the recent report that the terminal Azoospermia factor (AZFb+c) deletions are associated with abnormal neuropsychiatric condition (Castro et al, 2017 ). In patients with Yq microdeletions, there is a copy number variation of genes in the Pseudo-autosomal region (PAR; Jorgez et al, 2011 ).…”

Section: Discussionsupporting

confidence: 91%

“…The Acetylserotonin O-Methyltransferase ( ASMT ) gene located in PAR, which is involved in circadian rhythm abnormalities, is considered as a candidate gene for bipolar depression (Flaquer et al, 2010 ; Etain et al, 2012 ). Deletion of AZFb+c is found to influence the PAR gene expression, thus altering neuropsychiatric condition (Castro et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

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Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability

Dey

Kamle

Dereddi

et al. 2018

Front. Behav. Neurosci.

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The role of Y chromosome in sex determination and male fertility is well established. It is also known that infertile men are prone to psychological disturbances. Earlier studies in the laboratory identified genes expressed in testes that are putatively regulated by Y chromosome in man and mouse. With the availability of a Y-deleted mouse model, that is subfertile, we studied the effect of a partial deletion of Y-chromosomal heterochromatin on mouse behavior when compared to its wild type. The partial Y-deleted mice exhibited anxiety like phenotype under stress when different anxiety (open field test and elevated plus maze, EPM test) and depression related tests (tail suspension and force swim) were performed. The mutant mice also showed reduction in hippocampal neurogenesis and altered expression of neurogenesis markers such as Nestin, Sox2, Gfap, NeuroD1 and Dcx using quantitative real time PCR (qPCR) analysis. The genes with altered expression contained short stretches of homology to Y-derived transcripts only in their Untranslated Regions (UTRs). Our study suggests putative regulation of these genes by the Y chromosome in mouse brain altering stress related behavior.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability

Dey

Kamle

Dereddi

et al. 2018

Front. Behav. Neurosci.

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“…The abnormality of ASMT can lead to abnormal growth and neuropsychiatric function (Castro et al, 2017). SHOX is located in Yp11.32…”

Section: Ta B L E 1 Hormone Resultsmentioning

confidence: 99%

“…In addition, ASMT encodes for acetylserotonin o‐methyltransferase, involved in abnormalities in the sleep/wake cycle and is a candidate gene for bipolar affective and autism spectrum disorders. The abnormality of ASMT can lead to abnormal growth and neuropsychiatric function (Castro et al, ). SHOX is located in Yp11.32 and Xp22.33.…”

Section: Discussionmentioning

confidence: 99%

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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“…In 2011, Jorgez and collaborators [105] reported the occurrence of SHOX gene deletion in 5.4% of men with AZF deletions and a normal karyotype, hypothesizing a correlation between PAR rearrangements and AZF microdeletion formation. However, subsequent studies did not confirm this association between Y-chromosomal microdeletions and SHOX haploinsufficiency [106,107].…”

Section: The Par Regionsmentioning

confidence: 94%

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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Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function

Abstract: This work was supported by the National Fund for Scientific and Technological Development of Chile (FONDECYT), grant no. 1120176 (A.C.). The authors declare that no conflicting interests exist.

Cited by 22 publications

References 47 publications

Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability

Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability

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

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