Human Molecular Genetics, Vol 5, 789-800, Copyright © 1996 by Oxford University Press
W Gong, BS Emanuel, J Collins, DH Kim, Z Wang, F Chen, G Zhang, B Roe and ML Budarf
The majority of patients with DiGeorge syndrome (DGS) and velo-cardio-
facial syndrome (VCFS) have a microdeletion of 22q11. Using translocation
breakpoints and fluorescence in situ hybridization analysis (FISH), the
minimal DiGeorge critical region (MDGCR) has been narrowed to 250 kb in the
vicinity of D22S75 (N25). The construction of a detailed transcription map
covering the MDGCR is an essential first step toward the identification of
genes important to the etiology of DGS/VCFS, two complex disorders. We have
identified a minimum of 11 transcription units encoded in the MDGCR using a
combination of methods including cDNA selection, RT-PCR, RACE and genomic
sequencing. This approach is somewhat unique and may serve as a model for
gene identification. Of the 11 transcripts, one is the previously reported
DGCR2/IDD/LAN gene, and three revealed a high level of similarity to
mammalian genes: a Mus musculus serine/threonine kinase, a rat
tricarboxylate transport protein and a bovine clathrin heavy chain. The
remaining transcripts do not demonstrate any significant homology to genes
of known function. The identification of these transcription units in the
MDGCR will facilitate their further characterization and help elucidate
their role in the etiology of DGS/VCFS.
ARTICLES
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11
The Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA, USA.
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