The number of mitochondrial DNA mutations as a genetic feature for hair cycle arrest (alopecia X) in Pomeranian dogs

Abstract

Background Hair cycle arrest (HCA) is a noninflammatory alopecic disease affecting various dog breeds, particularly Pomeranian dogs. This disease is probably a hereditary disorder considering the strong breed predisposition. Despite efforts to identify the pathogenesis of this disease, an underlying specific cause is unknown. Objective To identify candidate gene mutations for HCA in Pomeranian dogs. Animals Four Pomeranian dogs diagnosed with HCA and four unaffected Pomeranian dogs. Materials and methods Whole blood was used for DNA extraction. Whole-genome sequencing (WGS) was performed, and variants were analysed using a Genome Analysis Toolkit (GATK) and SnpEff. All reads were aligned to the reference genome, Dog10K_Boxer_Tasha. Sanger sequencing was performed to define the complex mutations. Results A total of 113 variants of mitochondrial DNA were found to be effective gene mutations in the eight dogs. The affected dogs showed significantly increased effective mutations (average 57 variants) compared with unaffected dogs (average eight variants; p < 0.05). There was no significant difference in the number of chromosomal DNA mutations between the two groups. Conclusion and Clinical Importance We suggest that an increased number of mitochondrial gene mutations are features for HCA in Pomeranian dogs.