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Erschienen in: Journal of Assisted Reproduction and Genetics 4/2020

20.03.2020 | Genetics

Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers

verfasst von: Majda Lyna Mebrek, Sylvain Clède, Aliénor de Chalus, Solveig Heide, Léa Ruoso, Eli Rogers, Nathalie Lédée, Laura Prat-Ellenberg, Nino Guy Cassuto, Jean-Pierre Siffroi, Alexandre Rouen

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 4/2020

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Abstract

Introduction

Interphasic DNA has a constant three-dimensional conformation, which is particularly striking for spermatic DNA, with distinct chromosomal territories and a constant chromosomal conformation. We hypothesized that this organization is fragile, and that an excess or a lack of chromosomal segments could hinder the genomic structure as a whole.

Methods

Five human male chromosomal translocation carriers and five controls were included. Spermatic DNA spatial organization was studied, in both balanced and unbalanced spermatozoa, with two-dimensional fluorescent in situ hybridization (FISH) via analysis of chromosomes not implicated in the cases’ translocations, compared to that of normal controls. Two parameters were studied: the distance between the two telomeric ends of chromosome 1, and the area of the chromosomal territories of chromosomes 1 and 17.

Results

Sperm FISH analysis of rearrangement carriers revealed changes in the nuclear architecture compared to that of controls. Inter-telomeric distance and chromosomal territories areas were both significantly increased.

Discussion

We show that an excess or lack of chromosomal segments can hinder the normal spatial nuclear architecture in sperm. These results show that nuclear architecture is a fragile assembly, and that local chromosomal abnormalities may impact the nucleus as a whole. This suggests a potential avenue for selection of spermatozoa prior to in vitro fertilization, not only in rearrangement carriers but also in the infertile population at large. Furthermore, we suggest that 2D-FISH could possibly be a useful tool in assessing spermatic nuclear organization in a way to evaluate male fertility.
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Metadaten
Titel
Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers
verfasst von
Majda Lyna Mebrek
Sylvain Clède
Aliénor de Chalus
Solveig Heide
Léa Ruoso
Eli Rogers
Nathalie Lédée
Laura Prat-Ellenberg
Nino Guy Cassuto
Jean-Pierre Siffroi
Alexandre Rouen
Publikationsdatum
20.03.2020
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 4/2020
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-020-01736-3

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