RT Journal
A1 Jourdain, Jeanlin
A1 Barasc, Harmonie
A1 Faraut, Thomas
A1 Calgaro, Anne
A1 Bonnet, Nathalie
A1 Marcuzzo, Camille
A1 Suin, Amandine
A1 Barbat, Anne
A1 Hozé, Chris
A1 Besnard, Florian
A1 Taussat, Sébastien
A1 Grohs, Cécile
A1 Kuchly, Claire
A1 Iampietro, Carole
A1 Donnadieu, Cécile
A1 Pinton, Alain
A1 Boichard, Didier
A1 Capitan, Aurélien
T1 Large-scale detection and characterization of inter-chromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets
JF Genome Research 
JO Genome Research 
YR 2023 
FD July 06 
DO 10.1101/gr.277787.123 
UL http://genome.cshlp.org/content/early/2023/06/19/gr.277787.123.abstract 
AB In this paper, we developed a highly sensitive approach to detect inter-chromosomal rearrangements in cattle by searching for abnormal linkage disequilibrium patterns between markers located on different chromosomes in large paternal half-sib families genotyped as part of routine genomic evaluations. We screened 5571 families of artificial insemination sires from 15 breeds and revealed 13 putative inter-chromosomal rearrangements, 12 of which were validated by cytogenetic analysis and long-read sequencing. These consisted of one Robertsonian fusion, 10 reciprocal translocations, and the first case of insertional translocation reported in cattle. Taking advantage of the wealth of data available in cattle, we performed a series of complementary analyses to define the exact nature of these rearrangements, investigate their origins, and search for factors that may have favored their occurrence. We also evaluated the risks to the livestock industry and showed significant negative effects on several traits in the sires and in their balanced or aneuploid progeny compared with wild-type controls. Thus, we present the most comprehensive and thorough screen for inter-chromosomal rearrangements compatible with normal spermatogenesis in livestock species. This approach is readily applicable to any population that benefits from large genotype data sets, and will have direct applications in animal breeding. Finally, it also offers interesting prospects for basic research by allowing the detection of smaller and rarer types of chromosomal rearrangements than GTG banding, which are interesting models for studying gene regulation and the organization of genome structure.