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

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

Content Provider	Springer Nature Link
Author	Lee, Shin Aeh Lee, Seung Gon Moon, Hyeong Sun Lavulo, Lopeti Cho, Kyoung Oh Hyun, Changbaig
Copyright Year	2007
Abstract	GATA4 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.
Starting Page	241
Ending Page	247
Page Count	7
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	86
Issue Number	3
e-ISSN	09737731
Language	English
Publisher	Springer-Verlag
Publisher Date	2008-01-26
Publisher Institution	Indian Academy of Sciences
Publisher Place	India
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	GATA4 heart development congenital heart defect (CHD) atrial septal defect (ASD) dog canine genetics Evolutionary Biology Animal Genetics and Genomics Plant Genetics & Genomics Microbial Genetics and Genomics Life Sciences
Content Type	Text
Resource Type	Article
Subject	Genetics

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