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MKLN1 splicing defect in dogs with lethal acrodermatitis.

Anina Bauer1,2, Vidhya Jagannathan1,2, Sandra Högler3

  • 1Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.

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|March 23, 2018
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Summary
This summary is machine-generated.

Lethal acrodermatitis (LAD) in Bull Terriers is caused by a specific MKLN1 gene variant. This genetic discovery enables diagnostic testing to prevent affected puppies.

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Area of Science:

  • Canine genetics
  • Dermatology
  • Molecular biology

Background:

  • Lethal acrodermatitis (LAD) is an inherited skin disease in Bull Terriers and Miniature Bull Terriers.
  • LAD presents with growth issues, immune deficiency, and characteristic paw lesions.
  • The genetic basis of LAD has not been fully elucidated.

Purpose of the Study:

  • To identify the genetic cause of Lethal Acrodermatitis (LAD) in Bull Terriers.
  • To develop a genetic test for LAD to aid in breeding management.

Main Methods:

  • Genome-wide association study (GWAS) and haplotype analysis to map the LAD locus.
  • Whole genome sequencing to identify candidate variants.
  • RT-PCR to analyze gene expression in affected and control dogs.

Main Results:

  • A critical interval for the LAD locus was identified on chromosome 14.
  • A splice region variant (c.400+3A>C) in the MKLN1 gene was strongly associated with LAD.
  • This variant causes exon 4 skipping in MKLN1 transcripts, leading to a reading frame shift.

Conclusions:

  • The MKLN1 splice variant is the likely cause of Lethal Acrodermatitis in Bull Terriers.
  • Genetic testing for this variant can prevent the birth of affected dogs.
  • Further research into muskelin 1's function may illuminate LAD pathogenesis.