Research article - Peer-reviewed, 2023
Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs
Letko, Anna; Hedan, Benoit; Snell, Anna; Harris, Alexander C.; Jagannathan, Vidhya; Andersson, Goran; Holst, Bodil S.; Ostrander, Elaine A.; Quignon, Pascale; Andre, Catherine; Leeb, TossoAbstract
Bernese mountain dogs are a large dog breed formed in the early 1900s in Switzerland. While originally farm dogs that were used for pulling carts, guarding, and driving cattle, today they are considered multi-purpose companion and family dogs. The breed is predisposed to several complex diseases, such as histiocytic sarcoma, degenerative myelopathy, or hip dysplasia. Using whole-genome sequencing (WGS) data, we assessed the genomic architecture of 33 unrelated dogs from four countries: France, Sweden, Switzerland, and the United States. Analysis of runs of homozygosity (ROH) identified 12,643 ROH with an average length of 2.29 Mb and an average inbreeding coefficient of 0.395. Multidimensional scaling analysis of the genetic relatedness revealed limited clustering of European versus USA dogs, suggesting exchanges of breeding stock between continents. Furthermore, only two mtDNA haplotypes were detected in the 33 studied dogs, both of which are widespread throughout multiple dog breeds. WGS-based ROH analyses revealed several fixed or nearly fixed regions harboring discreet morphological trait-associated as well as disease-associated genetic variants. Several genes involved in the regulation of immune cells were found in the ROH shared by all dogs, which is notable in the context of the breed's strong predisposition to hematopoietic cancers. High levels of inbreeding and relatedness, strongly exaggerated in the last 30 years, have likely led to the high prevalence of specific genetic disorders in this breed.Keywords
population structure; inbreeding; whole-genome sequencing; immune system; cancerPublished in
Genes2023, volume: 14, number: 3, article number: 650
Publisher: MDPI
Authors' information
Letko, Anna
CNRS - National Institute for Biology (INSB)
Hedan, Benoit
CNRS - National Institute for Biology (INSB)
Snell, Anna
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Harris, Alexander C.
National Institutes of Health (NIH) - USA
Jagannathan, Vidhya
University of Bern
Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics
Swedish University of Agricultural Sciences, Department of Clinical Sciences
Ostrander, Elaine A.
National Institutes of Health (NIH) - USA
Quignon, Pascale
Universite de Rennes
Andre, Catherine
CNRS - National Institute for Biology (INSB)
Leeb, Tosso
University of Bern
UKÄ Subject classification
Genetics and Breeding
Publication Identifiers
DOI: https://doi.org/10.3390/genes14030650
URI (permanent link to this page)
https://res.slu.se/id/publ/121950