ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene

Elizabeth A. Lindsay, Emma L. Harvey, Peter J. Scambler, Antonio Baldini

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

ES2 is a gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) which has homologs in species as distant as Caenorhabditis elegans and Drosophila. The function of ES2 is unknown, and the predicted protein sequence does not contain motifs which suggest a particular role in the developmental defects present in DGS and VCFS. Here we show that the mouse homolog, Es2 is transcribed in two forms resulting from the use of alternative polyadenylation signals. Structural analysis programs predict that the Es2-encoded peptide has a coiled-coil domain, and transfection experiments with an Es2-green fluorescent protein (GFP) fusion construct show that the peptide is recruited into the nucleus. Es2 is highly expressed during mouse embryogenesis from E7 onwards. In situ hybridization with an RNA probe revealed that the gene is widely expressed; however, relatively higher expression was detected in the nervous system, with a particularly high area of expression in a sub-region of the pens. The Es2 expression domain in the pens is shared with a Goosecoid-like gene (Gscl) which is located upstream of Es2, and raises the possibility that the two genes share regulatory elements and/or interact in this region of the developing brain. This finding suggests that different genes in the deleted region may be functionally related and might explain the occurrence of the characteristic phenotype in patients with non-overlapping genetic lesions.

Original languageEnglish
Pages (from-to)629-635
Number of pages7
JournalHuman Molecular Genetics
Volume7
Issue number4
DOIs
Publication statusPublished - Apr 1998

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DiGeorge Syndrome
Nuclear Proteins
Genes
RNA Probes
Peptides
Polyadenylation
Caenorhabditis elegans
Regulator Genes
Green Fluorescent Proteins
Nervous System
Drosophila
Embryonic Development
In Situ Hybridization
Transfection
Phenotype
Brain
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. / Lindsay, Elizabeth A.; Harvey, Emma L.; Scambler, Peter J.; Baldini, Antonio.

In: Human Molecular Genetics, Vol. 7, No. 4, 04.1998, p. 629-635.

Research output: Contribution to journalArticle

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