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PMID:12372254

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Citation

Donovan, J, Kordylewska, A, Jan, YN and Utset, MF (2002) Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. Curr. Biol. 12:1605-10

Abstract

Congenital malformations of the heart and circulatory system are the most common type of human birth defect. Recent studies have implicated the Notch signaling pathway in human cardiac development by demonstrating abnormalities of the JAG1 gene as the basis for Alagille syndrome and some cases of isolated tetralogy of Fallot or pulmonic stenosis. How the Notch pathway acts in cardiac development remains unknown, but the Hey family of basic helix-loop-helix (bHLH) transcription factors are candidates for mediating Notch signaling in the developing cardiovascular system. Here, we use gene targeting to determine the developmental functions of mouse Hey2, a Hey family member that is expressed during the embryonic development of the heart, arteries, and other organs. Homozygotes for the Hey2 mutant allele display a spectrum of cardiac malformations including ventricular septal defects, tetralogy of Fallot, and tricuspid atresia, defects that resemble those associated with mutations of human JAG1. These results establish Hey2 as an important regulator of cardiac morphogenesis and suggest a role for Hey2 in mediating or modulating Notch signaling in the developing heart.

Links

PubMed

Keywords

Animals; Calcium-Binding Proteins; Gene Targeting; Heart Defects, Congenital/embryology; Heart Defects, Congenital/genetics; Heart Defects, Congenital/pathology; Heart Septal Defects, Ventricular/embryology; Heart Septal Defects, Ventricular/genetics; Heart Septal Defects, Ventricular/pathology; Homozygote; Humans; Intercellular Signaling Peptides and Proteins; Lac Operon; Membrane Proteins/physiology; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Phenotype; Proteins/genetics; Receptors, Notch; Signal Transduction; Tetralogy of Fallot/embryology; Tetralogy of Fallot/genetics; Tetralogy of Fallot/pathology; Transcription Factors/deficiency; Transcription Factors/genetics; Transcription Factors/physiology; Tricuspid Atresia/embryology; Tricuspid Atresia/genetics; Tricuspid Atresia/pathology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:HEY2

involved_in

GO:0003215: cardiac right ventricle morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0003214: cardiac left ventricle morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0003186: tricuspid valve morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0003184: pulmonary valve morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0003151: outflow tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0003150: muscular septum morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0061314: Notch signaling involved in heart development

ECO:0000305: curator inference used in manual assertion

GO:0003214

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0061156: pulmonary artery morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0060413: atrial septum morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0060412: ventricular septum morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:HEY2

involved_in

GO:0035910: ascending aorta morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:HEY2

involved_in

GO:0061314: Notch signaling involved in heart development

ECO:0000305: curator inference used in manual assertion

GO:0003214

P

Seeded From UniProt

complete


See also

References

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