Peer-reviewed veterinary case report
Intestinal fat absorption problems linked to gene deletion
By O'Brien, Mitchell J et al.·Published in Scientific reports·2020·School of Life and Environmental Sciences, Australia·View original on PubMed →
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Original publication title: A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed.
- Species:
- dog
Plain-English summary
Seventeen Australian Kelpie puppies were brought in with serious digestive issues, including poor growth, greasy stools, bloated bellies, and rough coats. Testing revealed that a genetic deletion affecting the ACSL5 gene was responsible for their inability to absorb fats properly. This condition is inherited in an autosomal recessive manner, meaning both parents must carry the gene for a puppy to be affected. A special test was developed to identify this genetic issue in affected dogs. With this knowledge, breeders can take steps to avoid passing on this condition in future litters.
People also search for: Australian Kelpie puppy growth problems · dog fatty stool causes · genetic testing for dog digestive issues
Abstract
Inborn errors of metabolism are genetic conditions that can disrupt intermediary metabolic pathways and cause defective absorption and metabolism of dietary nutrients. In an Australian Kelpie breeding population, 17 puppies presented with intestinal lipid malabsorption. Juvenile dogs exhibited stunted postnatal growth, steatorrhea, abdominal distension and a wiry coat. Using genome-wide association analysis, an associated locus on CFA28 (P = 2.87E) was discovered and validated in a closely related population (P = 1.75E). A 103.3 kb deletion NC_006610.3CFA28:g.23380074_23483377del, containing genes Acyl-CoA Synthetase Long Chain Family Member 5 (ACSL5) and Zinc Finger DHHC-Type Containing 6 (ZDHHC6), was characterised using whole transcriptomic data. Whole transcriptomic sequencing revealed no expression of ACSL5 and disrupted splicing of ZDHHC6 in jejunal tissue of affected Kelpies. The ACSL5 gene plays a key role in long chain fatty acid absorption, a phenotype similar to that of our affected Kelpies has been observed in a knockout mouse model. A PCR-based diagnostic test was developed and confirmed fully penetrant autosomal recessive mode of inheritance. We conclude the structural variant causing a deletion of the ACSL5 gene is the most likely cause for intestinal lipid malabsorption in the Australian Kelpie.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/33106515/