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

Autor: Solveig Heide, Jean-Pierre Siffroi, Majda Lyna Mebrek, Alexandre Rouen, Nino Guy Cassuto, Laura Prat-Ellenberg, Nathalie Lédée, Aliénor de Chalus, Eli Rogers, Léa Ruoso, Sylvain Clède
Přispěvatelé: Couvet, Sandrine, UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut national supérieur du professorat et de l'éducation - Académie de Paris (INSPÉ Paris), Sorbonne Université (SU), Laboratoire Drouot [Paris] (LD), Hôpital Pierre Rouquès - Les Bluets [Paris] (HPR - LB), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP]
Rok vydání: 2020
Předmět:
Zdroj: J Assist Reprod Genet
Journal of Assisted Reproduction and Genetics
Journal of Assisted Reproduction and Genetics, Springer Verlag, 2020, 37 (4), pp.803-809. ⟨10.1007/s10815-020-01736-3⟩
ISSN: 1573-7330
1058-0468
Popis: International audience; 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.
Databáze: OpenAIRE
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