Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility

Guediche, Narjes; Tosca, Lucie; Terki, A. Kara; Bas, Cécile; Lecerf, Laure; Young, Jacques; Briand-Suleau, Audrey; Tou, Bassim; Bouligand, Jérôme; Brisset, Sophie; Misrahi, Micheline; Guiochon‐Mantel, Anne; Goossens, Michel; Tachdjian, Gérard

doi:10.1016/j.rbmo.2011.08.014

Cited by 12 publications

(31 citation statements)

References 28 publications

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“…Previous studies on sperm of sSMC carriers have detected enhanced aneuploidy rates [Cotter et al 2000;Guediche et al 2012;Oracova et al 2009;Paetzold et al 2006;Perrin et al 2012;Wiland et al 2005]. The results obtained from the present study, confirmed and extended the results published by Guediche et al [2012] for both brothers (F and I).…”

Section: Discussionsupporting

confidence: 90%

“…Thus, we applied here for the first time 3-dimensional interphase fluorescence in situ hybridization (3D-FISH) for the determination of positioning of sSMC with respect to their sister-and selected other chromosomes in the sperm of two sSMC carriers, brothers with the identical sSMC derived from chromosome 15. Interestingly one of the brothers was fertile (brother F), while the other one was infertile (brother I) as previously reported [Guediche et al 2012].…”

Section: Introductionsupporting

confidence: 76%

“…To date, only a few sperm segregation analysis of sSMC carriers have been performed and reported for the sSMC derived from chromosomes 15 [Cotter et al 2000;Guediche et al 2012;Oracova et al 2009;Paetzold et al 2006], 20 [Wiland et al 2005], and 22 [Perrin et al 2012]. However, the nuclear architecture in sperm of sSMC carriers has never been done before.…”

Section: Discussionmentioning

confidence: 99%

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Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

Карамышева¹,

Kosyakova

Guediche

et al. 2014

Systems Biology in Reproductive Medicine

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Small supernumerary marker chromosomes (sSMC) are found about four times more frequently in subfertile compared to the general population. The reason for this finding is still unclear. However, a connection of interphase architecture and genome function is suggested. And as we found in a previous study the presence of sSMC influences the nuclear architecture of peripheral blood cells and fibroblasts, we hypothesized that sSMC could have similar effects in sperm cells possibly leading to infertility. Here we applied for the first time 3-dimensional interphase fluorescence in situ hybridization (3D-FISH) to characterize the position of an extrachromosome with respect to its sister-and selected other chromosomes (6, 15, 18, 19, 21, X, and Y) in sperm. Two sSMC carrier brothers with the identical sSMC derived from chromosome 15 were studied. One of the brothers was fertile and the other brother was infertile. Deviations from the normal positioning of chromosomes 21 and Y were seen in both brothers and for chromosomes 19 and X only in the infertile brother. Most striking were high rates of nullisomy and/or disomy for chromosomes 15, including sSMC (15), and 18 exclusively seen in the infertile brother. Overall, further evidence is provided that sSMC influence the nuclear architecture of a cell, including sperm. Further studies are necessary in sperm of fertile and infertile sSMC carriers to elaborate if the detected aneuploidy like that seen in the infertile brother is due to sSMC presence and disturbance of nuclear architecture.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

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Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

Карамышева¹,

Kosyakova

Guediche

et al. 2014

Systems Biology in Reproductive Medicine

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“…Region, type, size, polymorphism status, and genes related to spermatogenesis or infertility for CNVs of all 27 patients. Guediche et al (2012) detected small supernumerary marker chromosomes in patients using array CGH to evaluate the size and the precise genomic constitution. POTE B (POTE ankyrin domain family (member B)), located on 15q11.2, is expressed in human testis, particularly in a specific cell type in primary spermatocytes (Ise et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…POTE B (POTE ankyrin domain family (member B)), located on 15q11.2, is expressed in human testis, particularly in a specific cell type in primary spermatocytes (Ise et al, 2008). It is possible that POTE plays a role in human sperm maturation and its involvement in diverse regulatory pathways serves an important signaling function in the reproductive system (Guediche et al, 2012). It has also been shown that GOLGA8C replication on the 15q11.2 region is associated with male infertility (Tu et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Dong¹,

Pan²,

Wang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy number variations in order to provide a theoretical basis for further research. Spermatogenic failure patients consisting of 13 males with chromosomal abnormalities and 20 with unexplained azoospermia were enrolled. The subjects underwent high-throughput genome-wide sequencing to find copy number variants (CNVs), and the results were analyzed using the Database of Genomic Variants, Online Mendelian Inheritance in Man database, and PubMed. The results showed that 16 CNVs were detected in 11 patients with chromosome abnormalities, and 26 CNVs were found in 16 males with azoospermia. Our data showed CNV-involved loci including: three times on 11p11.12 and 14q11.2 and twice on 6p21.32, 13q11, 15q11.11, 16p12.2, 16042 Y. Dong et al.

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Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives

Slimani

Jelloul

Al-Rikabi³

et al. 2020

J Assist Reprod Genet

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Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility

Cited by 12 publications

References 28 publications

Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia

Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives

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