Mammalian Genome 10, 322–326 (1999). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1999 Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development 1 1 1 2 2 1,3 Tamim H. Shaikh, Shoshanna Gottlieb, Beatrice Sellinger, Feng Chen, Bruce A. Roe, Rebecca J. Oakey, 1,3 1,3 Beverly S. Emanuel, Marcia L. Budarf Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, 1002 Abramson Research Center, 34th Street and Civic Center Blvd., Philadelphia, Pennsylvania 19104, USA Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma 73019, USA Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA Received: 10 August 1998 / Accepted: 30 October 1998 Microdeletions of chromosomal region 22q11.2 have been associ- The predicted gene was shown to be expressed in humans by ated with many developmental disorders including DiGeorge syn- PCR amplification with gene-specific primers HpugNF (AG- drome (DGS), velocardiofacial syndrome (VCFS), and conotrun- GCTCTGGACAGCCTCTCCAG) and HpugNR (GGCAG- cal anomaly face syndrome (CTAFS). These syndromes have been CAGTTTGCAGCGCCGGT), with cDNA from human fetal brain referred to collectively as the 22q11 deletion syndrome (Budarf (Clontech) as template. The amplified product was sequenced di- and
Mammalian Genome – Springer Journals
Published: Mar 1, 1999
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