© 1993 Oxford University Press
RESEARCH-ARTICLE |
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
Molecular Medicine Unit, Institute of Child Health Guilford Street, London WC1N 1EH, UK 1Division of Medical and Molecular Genetics, UMDS Guy's Tower, London SE1 9RT, UK 2T936 Molecular Genetics Institute, Baylor College of Medicine Houston TX 77030, USA 3Genome Analysis Laboratory, ICRF Lincoln's Inn Fields, London WC2A 3PX, UK 4Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College London W2 1PG, UK 5Division of Human Genetics, 19, Claremont Place, University of Newcastle upon Tyne Newcastle upon Tyne NE2 4AA, UK +These authors made an equal contribution to this work and are listed alphabetically
*To whom correspondence should be addressed
Received September 6, 1993; Revised October 21, 1993; Accepted October 21, 1993
A wide spectrum of birth defects are caused by deletions of the DIGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have Identified a gene expressed during human and murine embryogenesIs. The gene, named TUPLE1, and Its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found In the beta-transducIn/enhancer of split (TLE) family. The TUPLE1 product has several features typical of transcriptIonal control proteins and In particular has homology with the yeast Tup1 transcrIptIonal regulator. We propose that haplolnsuffIcIency for TUPLE1 Is at least partly responsible for DIGeorge syndrome and related abnormalities.
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