Defining the heterochromatin localization and repression domains of SALL1

Biochim Biophys Acta. 2006 Mar;1762(3):386-91. doi: 10.1016/j.bbadis.2005.12.005. Epub 2006 Jan 6.

Abstract

SALL1 has been identified as one of four human homologues of the Drosophila region-specific homeotic gene spalt (sal), encoding zinc finger proteins of characteristic structure. Mutations of SALL1 on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS, OMIM 107480). We have shown previously that SALL1 acts as a strong transcriptional repressor in mammalian cells when fused to a heterologous DNA-binding domain. Here, we report that SALL1 contains two repression domains, one located at the extreme N-terminus of the protein and the other in the central region. SALL1 fragments with the central repression domain exhibited a punctate nuclear distribution pattern at pericentromeric heterochromatin foci in murine NIH-3T3 cells, suggesting an association between repression and heterochromatin localization. The implications of these findings for the pathogenesis of Townes-Brocks syndrome are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • Cell Nucleus / ultrastructure
  • Chromosomes, Human, Pair 16
  • Genes, Reporter
  • Heterochromatin / metabolism*
  • Humans
  • Mice
  • Mutation
  • NIH 3T3 Cells
  • Protein Structure, Tertiary
  • Repressor Proteins / chemistry
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism
  • Syndrome
  • Transcription Factors / chemistry*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcription, Genetic
  • Zinc Fingers

Substances

  • Heterochromatin
  • Repressor Proteins
  • SALL1 protein, human
  • Transcription Factors