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 |
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Authors: | Lindsay EA; Harvey EL; Scambler PJ; Baldini A |
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Institution: | Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. |
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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 pons. The Es2
expression domain in the pons 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.
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