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Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers
D Vasiliadis1,2, C Dierks1,2, H Hoffmann3
1Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Hannover, 30559, Germany.
Animal Genetics
|November 7, 2019
Summary
Researchers identified a genetic cause for X-linked facial dysmorphia in Labrador Retrievers. This severe growth condition was mapped to the X chromosome, implicating a candidate gene similar to Coffin-Lowry syndrome.
Area of Science:
- Canine genetics
- Comparative genomics
- Animal models of human disease
Background:
- Facial dysmorphia with severe growth retardation is a lethal X-linked condition observed in Labrador Retrievers.
- Understanding the genetic basis of inherited disorders in purebred dogs can provide insights into homologous conditions in other species.
Purpose of the Study:
- To identify the genetic mutation responsible for X-linked facial dysmorphia and severe growth retardation in Labrador Retrievers.
- To investigate the candidate gene RPS6KA3 as a potential cause of this canine disorder.
Main Methods:
- Genome-wide association study (GWAS) utilizing single nucleotide polymorphisms (SNPs).
- Fine-mapping of the associated region on the X chromosome.
- Haplotype analysis to confirm genetic associations.
- Candidate gene identification based on proximity to associated SNPs and homology with human/mouse syndromes.
Main Results:
- The lethal condition was successfully mapped to a specific region (17-21 Mb) on the X chromosome.
- Eight SNPs in complete linkage disequilibrium (LD) strongly supported the association.
- The candidate gene RPS6KA3, known to cause Coffin-Lowry syndrome in humans and mice, was identified in the vicinity.
- Haplotype analysis confirmed significant association in all 18 animals studied and was validated through pedigree analysis.
Conclusions:
- A specific genetic haplotype on the X chromosome is strongly associated with X-linked facial dysmorphia and severe growth retardation in Labrador Retrievers.
- RPS6KA3 is a strong candidate gene for this canine disorder, highlighting its role in craniofacial development and growth.
- This study provides a genetic basis for the condition and aids in diagnostic efforts and potential therapeutic strategies.
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