HIRA, a DiGeorge Syndrome Candidate Gene, Is Required for Cardiac Outflow Tract Septation
- 5 February 1999
- journal article
- research article
- Published by Wolters Kluwer Health in Circulation Research
- Vol. 84 (2) , 127-135
- https://doi.org/10.1161/01.res.84.2.127
Abstract
—DiGeorge syndrome (DGS) is a congenital disease characterized by defects in organs and tissues that depend on contributions by cell populations derived from neural crest for proper development. A number of candidate genes that lie within the q11 region of chromosome 22 commonly deleted in DGS patients have been identified. Orthologues of the DGS candidate gene HIRA are expressed in the neural crest and in neural crest–derived tissues in both chick and mouse embryos. By exposing a portion of the premigratory chick neural crest to phosphorothioate end–protected antisense oligonucleotides, ex ovo, followed by orthotopic backtransplantation to the untreated embryos, we have shown that the functional attenuation of cHIRA in the chick cardiac neural crest results in a significantly increased incidence of persistent truncus arteriosus, a phenotypic change characteristic of DGS, but does not affect the repatterning aortic arch arteries, the ventricular function, or the alignment of the outflow tract.Keywords
This publication has 38 references indexed in Scilit:
- Cloning and Developmental Expression Analysis of Chick Hira (Chira), a Candidate Gene for DiGeorge SyndromeHuman Molecular Genetics, 1997
- Abnormal patterning of the aortic arch arteries does not evoke cardiac malformationsDevelopmental Dynamics, 1997
- Repression domain of the yeast global repressor Tup1 interacts directly with histones H3 and H4.Genes & Development, 1996
- Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genesHuman Molecular Genetics, 1996
- Smooth Muscle α-Actin Downregulation in Cultured Chick Aortic Smooth Muscle and Neural Crest Cells Is Associated with Altered Cell ShapeExperimental Cell Research, 1996
- Localization of the Human Mitochondrial Citrate Transporter Protein Gene to Chromosome 22Q11 in the DiGeorge Syndrome Critical RegionGenomics, 1995
- Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndromeHuman Molecular Genetics, 1995
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinityHuman Molecular Genetics, 1995
- Backtransplantation of chick cardiac neural crest cells cultured in LIF rescues heart developmentDevelopmental Dynamics, 1993
- Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndromeHuman Molecular Genetics, 1993