Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans

Mamm Genome. 1996 Sep;7(9):639-43. doi: 10.1007/s003359900197.


We have identified and cloned a gene, ES2, encoding a putative 476 amino acid protein with a predicted Mr of 52,568. The gene is localized within the DiGeorge/Velocardiofacial syndrome locus on 22q11.2 and is deleted in all the patients in which a deletion within 22q11 could be demonstrated, with the exception of one patient. ES2 is expressed in all the tissues studied. Sequence comparison showed identity with five ESTs and at the amino acid level the sequence was highly similar to, and collinear with, a hypothetical C. elegans protein of unknown function. Mutation analysis was performed in 16 patients without deletion, but no mutation has been found. The cDNA sequence is conserved in mouse and is localized on MMU16B1-B3, known to contain a syntenic group in common with HSA 22q11.2.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Caenorhabditis elegans / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • Conserved Sequence
  • DNA Primers
  • DiGeorge Syndrome / genetics*
  • Face / abnormalities*
  • Gene Deletion*
  • Heart Defects, Congenital / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Sequence Homology, Amino Acid
  • Skull / abnormalities*
  • Syndrome


  • DNA Primers
  • ESS2 protein, human
  • Nuclear Proteins
  • Proteins

Associated data

  • GENBANK/L78010