Literature DB >> 32514588

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

Ewa Wiland1, Marta Olszewska1, Tomasz Woźniak1, Maciej Kurpisz2.   

Abstract

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.

Entities:  

Keywords:  Rare and common robertsonian translocations; Sperm chromosomes

Year:  2020        PMID: 32514588     DOI: 10.1007/s00018-020-03560-5

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN: 1420-682X            Impact factor:   9.261


  3 in total

1.  Meiotic Heterogeneity of Trivalent Structure and Interchromosomal Effect in Blastocysts With Robertsonian Translocations.

Authors:  Shuo Zhang; Caixia Lei; Junping Wu; Jing Zhou; Min Xiao; Saijuan Zhu; Yanping Xi; Jing Fu; Yijuan Sun; Congjian Xu; Xiaoxi Sun
Journal:  Front Genet       Date:  2021-02-16       Impact factor: 4.599

2.  Chromosomal Polymorphism and Speciation: The Case of the Genus Mazama (Cetartiodactyla; Cervidae).

Authors:  David Javier Galindo; Gabriela Siqueira Martins; Miluse Vozdova; Halina Cernohorska; Svatava Kubickova; Agda Maria Bernegossi; Dita Kadlcikova; Jiri Rubes; José Maurício Barbanti Duarte
Journal:  Genes (Basel)       Date:  2021-01-26       Impact factor: 4.096

3.  FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers.

Authors:  Saijuan Zhu; Yong Zhu; Feng Zhang; Junping Wu; Ying Chen; Yijuan Sun; Jing Fu; Jiangnan Wu; Min Xiao; Shuo Zhang; Jing Zhou; Caixia Lei; Feng Jiang
Journal:  Front Genet       Date:  2022-09-27       Impact factor: 4.772

  3 in total

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