Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.
Anim Genet
; 51(1): 122-126, 2020 Feb.
Article
em En
| MEDLINE
| ID: mdl-31691328
ABSTRACT
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.
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MEDLINE
Assunto principal:
Craniossinostoses
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Proteínas Quinases S6 Ribossômicas 90-kDa
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Doenças do Cão
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Cães
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Genes Letais
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article