Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

Stephanie Halford, Roy Wadey, Catherine Roberts, Sara C M Daw, Jennifer A. Whiting, Hilary O'Donnell, Ian Dunham, David Bentley, Elizabeth Lindsay, Antonio Baldini, Fiona Francis, Hans Lehrach, Robert Williamson, David I. Wilson, Judith Goodship, Ian Cross, John Burn, Peter J. Scambler

Research output: Contribution to journalArticlepeer-review

Abstract

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 haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities.

Original languageEnglish
Pages (from-to)2099-2107
Number of pages9
JournalHuman Molecular Genetics
Volume2
Issue number12
Publication statusPublished - Dec 1993

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

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