Human Molecular Genetics, Vol 6, 247-258, Copyright © 1997 by Oxford University Press
LG Wilming, CA Snoeren, A van Rijswijk, F Grosveld and C Meijers
A wide spectrum of birth defects is caused by deletions of the DiGeorge
syndrome chromosomal region at 22q11. Characteristic features include
cranio-facial, cardiac and thymic malformations, which are thought to arise
form disturbances in the interactions between hindbrain neural crest cells
and the endoderm of the pharyngeal pouches. Several genes have been
identified in the shortest region of deletion overlap at 22q11, but nothing
is known about the expression of these genes in mammalian embryos. We
report here the isolation of several murine embryonic cDNAs of the DiGeorge
syndrome candidate gene HIRA. We identified several alternatively spliced
transcripts. Sequence analysis reveals that Hira bears homology to the p60
subunit of the human Chromatin Assembly Factor I and yeast hir1p and Hir2p,
suggesting that Hira might have some role in chromatin assembly and/or
histone regulation. Whole mount in situ hybridization of mouse embryos at
various stages of development show that Hira is ubiquitously expressed.
However, higher levels of transcripts are detected in the cranial neural
folds, frontonasal mass, first two pharyngeal arches, circumpharyngeal
neural crest and the limb buds. Since many of the structures affected in
DiGeorge syndrome derive from these Hira expressing cell populations we
propose that haploinsufficiency of HIRA contributes to at least some of the
features of the DiGeorge phenotype.
ARTICLES
The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients
Institute of Pediatric Surgery, Erasmus University, Rotterdam, The Netherlands.
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