Article CC BY 4.0
refereed
published

Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers

Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Vasiliadis, D.;
Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Dierks, Claudia;
Affiliation
Kleintierpraxis Neuwarmbüchen, Isernhagen, Germany
Hoffmann, H.;
Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Hellige, M.;
Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Hewicker-Trautwein, M.;
Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Metzger, J.;
Affiliation
Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, Germany
Distl, O.

A GWAS was performed for inborn X-linked facial dysmorphia with severe growth retardation in Labrador Retrievers. This lethal condition was mapped on the X chromosome at 17–21 Mb and supported by eight SNPs in complete LD. Dams of affected male puppies were heterozygous for the significantly associated SNPs and male affected puppies carried the associated alleles hemizygously. In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin–Lowry syndrome. Haplotype analysis showed significant association with the phenotypes of all 18 animals under study. This haplotype was validated through normal male progeny from a dam with the not-associated haplotype on both X chromosomes but male affected full-sibs with the associated haplotype.

Cite

Citation style:
Could not load citation form.

Access Statistic

Total:
Downloads:
Abtractviews:
Last 12 Month:
Downloads:
Abtractviews:

Rights

Use and reproduction:

Export