Identification of the marker genes related with chronic mitral valve disease in dogs

Byung Gook Yoon, Dong Soo Lee, Kyoung Won Seo, Kun Ho Song

Research output: Contribution to journalArticlepeer-review


We aimed to identify genomic variations as well as the marker genes related with chronic mitral valve disease (CMVD) in Canis lupus familiaris using whole genome resequencing, which provides valuable resources for further study. Two ten-year old female Canis lupus familiaris English cocker spaniels were used for this study, one control and one who had been diagnosed as CMVD. For the whole genome resequencing, muscles from the left ventricular wall were collected from each dog. With the HiSeq DNA Shotgun library and HiSeq 2000 platform, whole genome resequencing was performed. From the results, we identified 5 million and 6 million variants in gene™ expression in the control and CMVD-diagnosed subject, respectively. We then selected the top 1,000 genes from the SNP, INS, and DEL mutation and 675 genes among them were overlapped for every mutation between the control and CMVD-diagnosed patient. Interestingly, in both groups, the intron variant (91.16 and 91.18%) and upstream variant (3.10 and 3.08%) are most highly related. Among the overlapped 675 genes, gene ontology for intracellular signal transduction is highly counted in INS, and DEL, and SNPs (35, 33, 31, respectively). In this study, we found that the COL and CDH gene families could be key molecules in identifying the difference in gene expression between control and CMVD-diagnosed dogs. We believe further studies will prove the importance of variants in key molecule expression and that these data will serve as a valuable foundation stone the study of canine CMVD.

Original languageEnglish (US)
Pages (from-to)190-195
Number of pages6
JournalJournal of Veterinary Clinics
Issue number4
StatePublished - Jan 1 2019
Externally publishedYes


  • CMVD
  • Dog
  • English cocker spaniel
  • Whole genome resequencing

ASJC Scopus subject areas

  • veterinary(all)


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