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

J Genet. 2007 Dec;86(3):241-7. doi: 10.1007/s12041-007-0031-x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Dog Diseases / genetics*
  • Dogs / classification
  • Dogs / genetics*
  • Female
  • GATA4 Transcription Factor / genetics*
  • Heart Septal Defects, Atrial / genetics
  • Heart Septal Defects, Atrial / veterinary*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Homology, Amino Acid
  • Species Specificity


  • DNA Primers
  • GATA4 Transcription Factor