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

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.

Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF)

“…Therefore, cardiac transcription factors modulating the levels of genes involved in cardiomorphogenesis may be the prime target gene for the identification of the genetic aetiology(ies) for TOF or other compound congenital cardiac defects. Despite the importance of identification of genetic aetiology(ies) in dogs with CHD, those studies have rarely been performed in dogs, although several candidate genes for canine CHD have been recently isolated and investigated (Lee et al. 2007, 2008).…”

Incidence of atrial septal defects in children attended the Cardiac Center of Ethiopia during January 2016 to December 2018

“…Several studies have suggested that the non-genetic factors such as poorly controlled maternal diabetes, maternal alcohol, drugs and cigarette consumptions during pregnancy are linked to the congenital heart disease including ASDs [28-33, 45].…”

Congenital Cardiopathies

“…This last view allows a more precise measurement of ASD-OS2 size in dogs and cats (Figure 19-39) [78]. On the left parasternal apical 4 chambers views, the very thin fossa ovalis may not be seen (echo dropout) due to the fact that the ultrasound beam is parallel to the interatrial septum.…”