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Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient

Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC;...

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Autores principales: Olszewska, Marta, Wanowska, Elzbieta, Kishore, Archana, Huleyuk, Nataliya, Georgiadis, Andrew P., Yatsenko, Alexander N., Mikula, Mariya, Zastavna, Danuta, Wiland, Ewa, Kurpisz, Maciej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663790/
https://www.ncbi.nlm.nih.gov/pubmed/26616419
http://dx.doi.org/10.1038/srep17408
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author Olszewska, Marta
Wanowska, Elzbieta
Kishore, Archana
Huleyuk, Nataliya
Georgiadis, Andrew P.
Yatsenko, Alexander N.
Mikula, Mariya
Zastavna, Danuta
Wiland, Ewa
Kurpisz, Maciej
author_facet Olszewska, Marta
Wanowska, Elzbieta
Kishore, Archana
Huleyuk, Nataliya
Georgiadis, Andrew P.
Yatsenko, Alexander N.
Mikula, Mariya
Zastavna, Danuta
Wiland, Ewa
Kurpisz, Maciej
author_sort Olszewska, Marta
collection PubMed
description Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(−)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(−) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 − 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient’s sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.
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spelling pubmed-46637902015-12-03 Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient Olszewska, Marta Wanowska, Elzbieta Kishore, Archana Huleyuk, Nataliya Georgiadis, Andrew P. Yatsenko, Alexander N. Mikula, Mariya Zastavna, Danuta Wiland, Ewa Kurpisz, Maciej Sci Rep Article Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(−)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(−) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 − 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient’s sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient. Nature Publishing Group 2015-11-30 /pmc/articles/PMC4663790/ /pubmed/26616419 http://dx.doi.org/10.1038/srep17408 Text en Copyright © 2015, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Olszewska, Marta
Wanowska, Elzbieta
Kishore, Archana
Huleyuk, Nataliya
Georgiadis, Andrew P.
Yatsenko, Alexander N.
Mikula, Mariya
Zastavna, Danuta
Wiland, Ewa
Kurpisz, Maciej
Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title_full Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title_fullStr Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title_full_unstemmed Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title_short Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient
title_sort genetic dosage and position effect of small supernumerary marker chromosome (ssmc) in human sperm nuclei in infertile male patient
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663790/
https://www.ncbi.nlm.nih.gov/pubmed/26616419
http://dx.doi.org/10.1038/srep17408
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