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

Nam, So-Jeong (Section of Small Animal Internal Medicine, School of Veterinary Medicine, Kangwon National University)
Hyun, Chang-Baig (Section of Small Animal Internal Medicine, School of Veterinary Medicine, Kangwon National University)
Publication Information
Journal of Veterinary Clinics / v.26, no.2, 2009 , pp. 123-129 More about this Journal
Abstract
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.
Keywords
dog; TFAP2B; CHD; patent ductus arteriosus;
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1 Hyun C, Lavulo L. Congenital heart diseases in small animals: Part I. Genetic pathway and potential candidate genes. Vet J 2006; 171: 245-255   DOI   ScienceOn
2 Hyun C, Park I-C. Congenital heart diseases in small animals: Part II. Potential genetic aetiologies based on human genetic studies. Vet J 2006; 171: 256-262   DOI   ScienceOn
3 Mani A, Meraji SM, Houshyar R, Radhakrishnan J, Mani A, Ahangar M, Rezaie TM, Taghavinejad MA, Broumand B, Zhao H, Nelson-Williams C, Lifton RP. Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus. Proc Nat Acad Sci 2002; 99: 15054-15059   DOI   ScienceOn
4 Hyun C. Congenital heart disease. In: Small animal cardiology. Seoul: Panmoon publishing. 2005: 279-281
5 Turk JR, Miller LM, Miller JB, Sande RD. Necrotizing pulmonary arteritis in a dog with patent ductus arteriosus. J Small Anim Pract 1981; 22: 603-608   DOI   ScienceOn
6 Lamy M, de Grouchy J, Schweisguth O. Genetic and nongenetic factors in the etiology of congenital heart disease: a study of 1188 cases. Am. J. Hum. Genet 1957; 9: 17-41   PUBMED
7 Moser M, Imhof A, Pscherer A, Bauer R, Amselgruber W, Sinowatz F, Hofstadter F, Schule R, Buettner R. Cloning and characterization of a second AP-2 transcription factor: AP-2 beta. Development 1995; 121: 2779-2788   PUBMED
8 Polani PE, Campbell M. Factors in the causation of patent ductus arteriosus. Ann Hum Genet 1960; 24: 343-357   DOI   ScienceOn
9 Kittleson MK., Kienle RD. Patent ducus arterosus. In: Small animal cardiovascular medicine. St. Louis: Mosby. 1998: 218-230
10 Williamson JA, Bosher JM, Skinner A, Sheer D, Williams T, Hurst HC. Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors. Genomics 1996; 35: 262- 264   DOI   ScienceOn
11 Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont MEM, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 2000; 25: 42-46   DOI   ScienceOn
12 Korenberg J, Bradley C, Disteche C. Down syndrome, molecular mapping of congenital heart disease and duodenal stenosis. Am J Hum Genet 1992; 50: 294-302   PUBMED
13 Moser M, Pscherer A, Roth C, Becker J, Mucher G, Zerres K, Dixkens C, Weis J, Guay-Woodford L, Buettner R, Fassler R. Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta. Genes Dev 1997; 11: 1938-1948   DOI   ScienceOn
14 Nguyen M, Camenisch T, Snouwaert JN, Hicks E, Coffman TM, Anderson PA, Malouf NN, Koller BH. The prostaglandin receptor EP4 triggers remodeling of the cardiovascular system at birth. Nature 1997; 390: 78-81   DOI   PUBMED   ScienceOn
15 Zhao F, Weismann CG, Satoda M, Pierpont MEM, Sweeney E, Thompson EM, Gelb BD. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet 2001; 69: 695-703   DOI   ScienceOn
16 Patterson DF, Detweiler DK. Hereditary transmission of patent ductus arteriosus in the dog. Am Heart J 1967; 74: 289-290   DOI   ScienceOn
17 Turk JR, Miller LM, Miller JB, Sande RD, Nguyen M, Camenisch T, Snouwaert JN, Hicks E, Coffman TM, Anderson PAW, Malouf NN, Koller BH. The prostaglandin receptor EP4 triggers remodeling of the cardiovascular system at birth. Nature 1997; 390: 78-81   DOI   PUBMED   ScienceOn