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Updated: Jul 8, 2025

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A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins
Published on: April 30, 2018
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Negative Selection on a SOD1 Mutation Limits Canine Degenerative Myelopathy While Avoiding Inbreeding
Hisashi Ukawa1, Noriyoshi Akiyama1,2, Fumiko Yamamoto1
1Genetic Testing Section, Anicom Pafe Inc., Kanagawa, Japan.
Genome Biology and Evolution
|December 18, 2023
Summary
Genetic testing significantly reduced the frequency of the degenerative myelopathy mutation in Pembroke Welsh Corgis. This breeding strategy effectively lowered genetic risk without impacting overall genetic diversity or inbreeding levels.
Area of Science:
- Canine genetics
- Veterinary medicine
- Population genetics
Background:
- Hundreds of disease-causing mutations exist in domestic dogs, necessitating breeding management to control their spread.
- Genetic testing is increasingly popular, but its population-level effects remain largely unexamined.
- Canine degenerative myelopathy is a significant inherited neurological disorder in dogs.
Purpose of the Study:
- To evaluate the impact of genetic testing on the frequency of the degenerative myelopathy mutation (c.118G>A in SOD1) in Pembroke Welsh Corgis.
- To assess changes in the genetic structure of this population following genetic testing implementation.
- To investigate the potential of genetic testing to inform breeding strategies and reduce disease risk.
Main Methods:
- Genetic testing of 5,512 dogs for the SOD1 c.118G>A mutation.
- Genome-wide single-nucleotide polymorphism (SNP) analysis of 117 dogs to calculate Weir and Cockerham's FST.
- Analysis of inbreeding levels and genetic diversity using SNP data from 2019 and 2022.
Main Results:
- The frequency of the SOD1 mutation decreased dramatically from 14.5% in 2019 to 2.9% in 2022.
- A significant selection signature was detected in the SOD1 gene, adjacent to the mutation.
- Genome-wide analyses showed no significant changes in inbreeding or genetic diversity between the tested years.
Conclusions:
- Genetic testing, combined with informed mating choices, can rapidly decrease the prevalence of deleterious mutations in dog populations.
- This approach effectively reduces the genetic risk of fatal diseases like canine degenerative myelopathy.
- The study demonstrates the utility of genetic tools for responsible dog breeding and population health management.
Keywords:
artificial selectioncanine degenerative myelopathyeffective population sizegenetic testinginbreedingMore Related Videos
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