Cargando…

How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?

In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classifie...

Descripción completa

Detalles Bibliográficos
Autores principales: Wiland, Ewa, Olszewska, Marta, Woźniak, Tomasz, Kurpisz, Maciej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658086/
https://www.ncbi.nlm.nih.gov/pubmed/32514588
http://dx.doi.org/10.1007/s00018-020-03560-5
_version_ 1783608590643232768
author Wiland, Ewa
Olszewska, Marta
Woźniak, Tomasz
Kurpisz, Maciej
author_facet Wiland, Ewa
Olszewska, Marta
Woźniak, Tomasz
Kurpisz, Maciej
author_sort Wiland, Ewa
collection PubMed
description In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00018-020-03560-5) contains supplementary material, which is available to authorized users.
format Online
Article
Text
id pubmed-7658086
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Springer International Publishing
record_format MEDLINE/PubMed
spelling pubmed-76580862020-11-13 How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers? Wiland, Ewa Olszewska, Marta Woźniak, Tomasz Kurpisz, Maciej Cell Mol Life Sci Review In men with oligozoospermia, Robertsonian translocations (RobTs) are the most common type of autosomal aberrations. The most commonly occurring types are rob(13;14) and rob(14;21), and other types of RobTs are described as ‘rare’ cases. Based on molecular research, all RobTs can be broadly classified into Class 1 and Class 2. Class 1 translocations produce the same breakpoints within their RobT type, but Class 2 translocations are predicted to form during meiosis or mitosis through a variety of mechanisms, resulting in variation in the breakpoint locations. This review seeks to analyse the available data addressing the question of whether the molecular classification of RobTs into Classes 1 and 2 and/or the type of DD/GG/DG symmetry of the involved chromosomes is reflected in the efficiency of spermatogenesis. The lowest frequency value calculated for the rate of alternate segregants was found for rob(13;15) carriers (Class 2, symmetry DD) and the highest for rob(13;21) carriers (Class 2, DG symmetry). The aneuploidy values for the rare RobT (Class 2) and common rob(14;21) (Class 1) groups together exhibited similarities while differing from those for the common rob(13;14) (Class 1) group. Considering the division of RobT carriers into those with normozoospermia and those with oligoasthenozoospermia, it was found that the number of carriers with elevated levels of aneuploidy was unexpectedly quite similar and high (approx. 70%) in the two subgroups. The reason(s) that the same RobT does not always show a similar destructive effect on fertility was also pointed out. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00018-020-03560-5) contains supplementary material, which is available to authorized users. Springer International Publishing 2020-06-08 2020 /pmc/articles/PMC7658086/ /pubmed/32514588 http://dx.doi.org/10.1007/s00018-020-03560-5 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
Wiland, Ewa
Olszewska, Marta
Woźniak, Tomasz
Kurpisz, Maciej
How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title_full How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title_fullStr How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title_full_unstemmed How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title_short How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?
title_sort how much, if anything, do we know about sperm chromosomes of robertsonian translocation carriers?
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658086/
https://www.ncbi.nlm.nih.gov/pubmed/32514588
http://dx.doi.org/10.1007/s00018-020-03560-5
work_keys_str_mv AT wilandewa howmuchifanythingdoweknowaboutspermchromosomesofrobertsoniantranslocationcarriers
AT olszewskamarta howmuchifanythingdoweknowaboutspermchromosomesofrobertsoniantranslocationcarriers
AT wozniaktomasz howmuchifanythingdoweknowaboutspermchromosomesofrobertsoniantranslocationcarriers
AT kurpiszmaciej howmuchifanythingdoweknowaboutspermchromosomesofrobertsoniantranslocationcarriers