title: Modification of chromosomal architecture in human spermatozoa with large vacuoles.
abstract: Human normal spermatozoa present a specific chromatin organization, illustrated particularly by the non-random chromosome positioning. Spermatozoa with large vacuoles, described using motile sperm organelle morphology organization (MSOME), are associated with nuclear alterations, such as abnormal chromatin condensation and aneuploidy. To question a probable association between large nuclear vacuoles and chromatin disorganization, we evaluated chromosomes X, Y and 18 topography in normal spermatozoa (NS) compared with spermatozoa with large vacuoles (SLV). After centrifugation on a gradient density system, 229 NS (spermatozoa presenting a normal nuclear shape and a vacuole area <6.5% of head area) from 10 normal semen samples and 221 SLV (spermatozoa presenting a vacuole area >13% of head area) from 10 semen samples with teratozoospermia were selected using MSOME. A three-colour FISH was carried out using α-satellite centromeric probes for chromosomes X, Y and 18. For each chromosome, longitudinal and spatial positioning of centromeres was analysed. Distribution of each chromosome was non-random in NS and in SLV, whatever the methodology used. Using longitudinal positioning, distribution of chromosome 18 and chromosome Y centromeres did not differ significantly between SLV and NS. On the contrary, chromosome X centromeres were more frequently positioned in the posterior region of sperm nucleus in SLV (p = 0.01). Considering spatial positioning, distributions differed significantly between SN and SLV for chromosome Y (p = 0.02) and chromosome 18 (p < 10(-4) ) and marginally for chromosome X (p = 0.08). Our study concluded to a modification in chromosomes X, Y and 18 centromere topography between NS and SLV, representing a novel and supplementary evidence to argue chromatin disorganization in SLV.
authors.affiliation: Biology Laboratory-CECOS, EA 4308 Spermatogenesis and male gamete quality, Rouen University Hospital, Rouen Cedex, France. anne.perdrix@chu-rouen.fr
authors.forename: A
authors.initials: A
authors.lastname: Perdrix
authors.forename: A
authors.initials: A
authors.lastname: Travers
authors.forename: F
authors.initials: F
authors.lastname: Clatot
authors.forename: L
authors.initials: L
authors.lastname: Sibert
authors.forename: V
authors.initials: V
authors.lastname: Mitchell
authors.forename: F
authors.initials: F
authors.lastname: Jumeau
authors.forename: B
authors.initials: B
authors.lastname: Macé
authors.forename: N
authors.initials: N
authors.lastname: Rives
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics / Q000473:pathology*; D016022:Case-Control Studies; D053144:Cell Nucleus Shape; D002499:Centrifugation, Density Gradient; D002503:Centromere / Q000473:pathology; D016009:Chi-Square Distribution; D042002:Chromatin Assembly and Disassembly; D045584:Chromosome Positioning; D002887:Chromosomes, Human, Pair 18; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011003:Ploidies; D013081:Sperm Motility; D013094:Spermatozoa / Q000473:pathology*; D014617:Vacuoles / Q000473:pathology*