Letko, Anna; Hédan, Benoît; Snell, Anna; Harris, Alexander C; Jagannathan, Vidhya; Andersson, Göran; Holst, Bodil S; Ostrander, Elaine A; Quignon, Pascale; André, Catherine; Leeb, Tosso (2023). Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs. Genes, 14(3) MDPI, Molecular Diversity Preservation International 10.3390/genes14030650
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
09 Interdisciplinary Units > Next Generation Sequencing (NGS) Platform 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
UniBE Contributor: |
Letko, Anna, Jagannathan, Vidya, Leeb, Tosso |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
2073-4425 |
Publisher: |
MDPI, Molecular Diversity Preservation International |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
30 Mar 2023 14:29 |
Last Modified: |
26 Apr 2023 17:04 |
Publisher DOI: |
10.3390/genes14030650 |
PubMed ID: |
36980922 |
Uncontrolled Keywords: |
cancer immune system inbreeding population structure whole-genome sequencing |
BORIS DOI: |
10.48350/181079 |
URI: |
https://boris.unibe.ch/id/eprint/181079 |
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