title: Evidence for a parent-of-origin effect on sperm aneuploidy in mice carrying Robertsonian translocations as analyzed by fluorescence in situ hybridization.
abstract: Multi-color fluorescence in situ hybridization (FISH) was employed to investigate variations in the frequency of aneuploid spermatids produced by males derived from three separate lines of Robertsonian translocations in mice: Rb(2.8)2Lub, Rb(8.12)22Lub, and Rb(8.14)16Rma, each with one arm involving chromosome 8. The DNA probes used were specific for repetitive sequences on chromosomes 8 and X. Heterozygous males for these Robertsonian translocations produced approximately 1% of spermatids with hyperhaploid for chromosome 8. which was > 80 times higher than the frequency of sperm hyperhaploid for chromosome X within the same animals; consistent elevations in chromosome-8 sperm disomy were observed among lines. In addition, approximately 25% higher fractions of sperm aneuploidy were observed when the Robertsonian translocation was inherited from the father rather than from the mother (p = 0.009). These findings illustrate the sensitivity of the FISH procedure for detecting small differences in the hyperhaploidy in male germ cells and suggest that imprinted factors may influence sperm aneuploidy.
authors.affiliation: Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Baulch
authors.forename: X R
authors.initials: XR
authors.lastname: Lowe
authors.forename: J B
authors.initials: JB
authors.lastname: Bishop
authors.forename: A J
authors.initials: AJ
authors.lastname: Wyrobek
mesh_terms: D000782:Aneuploidy; D000818:Animals; D002678:Chimera; D005260:Female; D006579:Heterozygote; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D051379:Mice; D013087:Spermatids / Q000502:physiology*; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics