Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.

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dc.contributor.authorLee, Shin-Aehen_US
dc.contributor.authorLee, Seung-Gonen_US
dc.contributor.authorMoon, Hyeong-Sunen_US
dc.contributor.authorLavulo, Lopetien_US
dc.contributor.authorCho, Kyoung-Ohen_US
dc.contributor.authorHyun, Changbaigen_US
dc.date.accessioned2007-12-29en_US
dc.date.accessioned2009-06-02T07:17:30Z
dc.date.available2007-12-29en_US
dc.date.available2009-06-02T07:17:30Z
dc.date.issued2007-12-29en_US
dc.description.abstractGATA4 is expressed early in the developing heart where it plays a key role in regulating the expression of genes encoding myocardial contractile proteins. Gene mutations in the human GATA4 have been implicated in various congenital heart defects (CHD), including atrial septal defect (ASD). Although ASD is the third most common CHD in humans, it is generally rare in dogs and cats. There is also no obvious predilection for ASD in dogs and cats, based on sex or breed. However, among dogs, the incidence rate of ASD is relatively high in Samoyeds and Doberman Pinschers, where its inheritance and genetic aetiology are not well understood. In this study, we identified and investigated the genetic aetiology of an ASD affected family in a pure breed dog population. Although the GATA4 gene was screened, we did not find any mutations that would result in the alteration of the coding sequence and hence, the predicted GATA4 structure and function. Although the aetiology of ASD is multifactorial, our findings indicate that GATA4 may not be responsible for the ASD in the dogs used in this study. However, this does not eliminate GATA4 as a candidate for ASD in other dog breeds.en_US
dc.description.affiliationSection of Small Animal Internal Medicine, School of Veterinary Medicine, Kangwon National University, Chuncheon, Korea.en_US
dc.identifier.citationLee SA, Lee SG, Moon HS, Lavulo L, Cho KO, Hyun C. Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect. Journal of Genetics. 2007 Dec; 86(3): 241-7en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/114350
dc.language.isoengen_US
dc.source.urihttps://www.ias.ac.in/jgenet/index.htmlen_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshDNA Primers --geneticsen_US
dc.subject.meshDog Diseases --geneticsen_US
dc.subject.meshDogs --classificationen_US
dc.subject.meshFemaleen_US
dc.subject.meshGATA4 Transcription Factor --geneticsen_US
dc.subject.meshHeart Septal Defects, Atrial --geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPedigreeen_US
dc.subject.meshSequence Homology, Amino Aciden_US
dc.subject.meshSpecies Specificityen_US
dc.titleIsolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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