Genetic Screening of the Canine Transcription Factor AP-2 Beta (TFAP2B) Gene in Dogs with Patent Ductus Arteriosus (PDA)

서지정보

· 발행기관 : 한국임상수의학회
· 수록지 정보 : 한국임상수의학회지 / 26권 / 2호 / 123 ~ 129페이지
· 저자명 : 남소정, 현창백

초록

Patent ductus arteriosus (PDA) is an abnormal shunt between the descending aorta and pulmonary artery
through the incompletely closed ductus arteriosus and is the most common congenital heart defect in dogs. Recent
human genetic studies found that a the gene mutation in transcription factor AP-2 beta (TFAP2B) was responsible
for syndromic cases of PDA. Mutations in the TFAP2B gene are associated with certain congenital cardiac defects
in humans that include PDA. In this study, we isolated the entire coding exons of canine TFAP2B gene for genetic
screening in dogs with PDA. Analysis of the deduced amino acid sequence suggested that the canine TFAP2B are
phylogenetically closer to the human TFAP2B (100% identity in amino acid sequence) than mouse and rat. In cTFAP2B
gene screening, one single c.936 + 203G > A base change was found in affected Maltese dogs with PDA. However,
further screening found the same base change in one unaffected control dog, suggesting this base change might be
polymorphism. No other base changes were found in other dog breeds enrolled in this study. Because the base change
was located in the intronic region and found in an unaffected control dog, TFAP2B might not be responsible for familial
PDA in Malteses and sporadic cases of other dog breeds, although the gene promoter region should be investigated
before reaching to this conclusion. A future study that may take this study further would be to collect more samples
and to screen TFAP2B in various breeds of dogs with PDA and other various congenital heart defects.

참고자료

· 없음