Congenital heart defects with gata transcription factors
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Congenital Heart Defects with GATA Transcription Factors. By: Ben Devenney Biochemistry 2007. Basic Facts. Congenital Heart Defects occurs in 5-8 out of every 1000 births- most common major birth defect 85% of those survive into adulthood

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Congenital Heart Defects with GATA Transcription Factors

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Congenital heart defects with gata transcription factors

Congenital Heart Defects with GATA Transcription Factors

By: Ben Devenney

Biochemistry 2007


Basic facts

Basic Facts

  • Congenital Heart Defects occurs in 5-8 out of every 1000 births- most common major birth defect

  • 85% of those survive into adulthood

  • Approx 1 million adults in world today born with some sort of CHD.

  • Heart is first organ to form in body.

  • Primarily Genetic


Various forms of chd

Various Forms of CHD

  • Heart Murmur

  • Atrial Septal Defect

  • Coarctation of the Aorta

  • Ventricular Septal Defect

  • Aortic Stenosis

  • Cardiac Malpositions (ex- heart on right side)


Chd testing

CHD Testing

  • Physical Appearance

  • X-Ray

  • Electrocardiogram

  • Echocardiogram

  • Palpation

  • Arterial Pulse


Causes of chd

Causes of CHD

  • Scientists still learning about heart formation and specific causes through Gene Targeting Experiments

  • Occurs in error of instructions given to the developmental cells.

  • GATA Family largely responsible for heart formation.


Animals used for gene targeting experiments in studying the human heart

Animals used for Gene Targeting Experiments in studying the Human Heart.


Heart development

Heart Development


Gata transcription factors

GATA Transcription Factors

  • 6 GATA factors, but GATA -4 is primary one found to cause heart defects.

  • GATA-4 regulates the second stage of cardiac development.

  • GATA proteins are part of zinc finger transcription factor.

  • Zinc Finger: a finger-shaped fold in a protein that permits it to interact with DNA and RNA. The fold is created by the binding of specific amino acids in the protein to a zinc atom.


Gata 4

GATA-4

  • Found on Chromosome 8p23.1-p22

  • Impairs ventricular growth

  • Necessary for sequence specific DNA binding activity

  • Procardiomyocytes fail to migrate from anterior to dorsal region of the embryo to ventral midline to form linear heart tube.

  • “Forced expression on GATA-4 in P19 cells accelerate cardiogenesis and increased the number of cardiac myocytes”

  • On N-terminus of GATA-4, transcriptional activation domains identified (ADI and ADII)

  • Both AD’s contain Tyrosine and Serine residues meaning posttranslational modifications of GATA-4


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