Copy number variation underlies complex phenotypes in domestic dog breeds and other canids

Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant part of inter-individual genomic diversity in other systems. However, a compr...

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Detalles Bibliográficos
Autores: Serres-Armero, Aitor|||0000-0003-1679-811X, Davis, Brian W.|||0000-0002-6121-135X, Povolotskaya, Inna S.|||0000-0001-6621-232X, Morcillo-Suarez, Carlos, Plassais, Jocelyn|||0000-0002-2112-1595, Juan, David|||0000-0003-1912-9667, Ostrander, Elaine A.|||0000-0001-6075-9738, Marquès i Bonet, Tomàs|||0000-0002-5597-3075
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:256109
Acceso en línea:https://ddd.uab.cat/record/256109
https://dx.doi.org/urn:doi:10.1101/gr.266049.120
Access Level:acceso abierto
Palabra clave:Genome assembly
Transcriptome assembly
Copy number variation
Rangifer tarandus
Genome annotation
Descripción
Sumario:Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant part of inter-individual genomic diversity in other systems. However, a comprehensive genome-wide study of structural variation as it relates to breed-specific phenotypes is lacking. We have generated whole genome CNV maps for more than 300 canids. Our data set extends the canine structural variation landscape to more than 100 dog breeds, including novel variants that cannot be assessed using microarray technologies. We have taken advantage of this data set to perform the first CNV-based genome-wide association study (GWAS) in canids. We identify 96 loci that display copy number differences across breeds, which are statistically associated with a previously compiled set of breed-specific morphometrics and disease susceptibilities. Among these, we highlight the discovery of a long-range interaction involving a CNV near MED13L and TBX3, which could influence breed standard height. Integration of the CNVs with chromatin interactions, long noncoding RNA expression, and single nucleotide variation highlights a subset of specific loci and genes with potential functional relevance and the prospect to explain trait variation between dog breeds.