%0 Journal Article %T Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers %+ CHU Trousseau [APHP] %+ Institut national supérieur du professorat et de l'éducation - Académie de Paris (INSPÉ Paris) %+ Laboratoire Drouot [Paris] (LD) %+ Hôpital Pierre Rouquès - Les Bluets [Paris] (HPR - LB) %+ Maladies génétiques d'expression pédiatrique (U933) %A Mebrek, Majda Lyna %A Clède, Sylvain %A de Chalus, Aliénor %A Heide, Solveig %A Ruoso, Léa %A Rogers, Eli %A Lédée, Nathalie %A Prat-Ellenberg, Laura %A Cassuto, Nino Guy %A Siffroi, Jean-Pierre %A Rouen, Alexandre %< avec comité de lecture %@ 1058-0468 %J Journal of Assisted Reproduction and Genetics %I Springer Verlag %V 37 %N 4 %P 803-809 %8 2020-04 %D 2020 %R 10.1007/s10815-020-01736-3 %M 32193768 %K Chromosomal translocation %K Nuclear architecture %K Sperm nucleus %Z Life Sciences [q-bio]/Genetics/Human geneticsJournal articles %X 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. %G English %L inserm-03780488 %U https://inserm.hal.science/inserm-03780488 %~ INSERM %~ APHP %~ U933 %~ SORBONNE-UNIVERSITE %~ SORBONNE-UNIV %~ SU-MEDECINE %~ SU-MED %~ SU-TI %~ ALLIANCE-SU