Molecular cloning of a SALL1-related pseudogene and mapping to chromosome Xp11.2

Cytogenet Cell Genet. 1999;84(1-2):31-4. doi: 10.1159/000015206.

Abstract

SALL1 and SALL2 have been identified as two human homologs of the region-specific homeotic gene spalt (sal) of Drosophila, which encodes a zinc finger protein of characteristic structure. SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No. 107480). Here we report the isolation and mapping of another sal-like human gene, named SALL1P, on chromosome Xp11.2. This intronless gene closely resembles SALL1 but displays several mutations, suggesting that SALL1P represents a sal-related pseudogene. The high similarity of SALL1P to SALL1 is of considerable importance for mutation analysis of SALL1 in TBS.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Drosophila / genetics
  • Genes, Homeobox
  • Genes, Insect
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Mutation
  • Pseudogenes*
  • Sequence Homology, Nucleic Acid
  • Syndrome
  • Transcription Factors / genetics*
  • X Chromosome / genetics*
  • Zinc Fingers / genetics*

Substances

  • DNA, Complementary
  • SALL1 protein, human
  • Transcription Factors

Associated data

  • GENBANK/AJ010104