title: Defining the heterochromatin localization and repression domains of SALL1.
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.
authors.affiliation: Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111 Bonn, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Netzer
authors.forename: Stefan K
authors.initials: SK
authors.lastname: Bohlander
authors.forename: Markus
authors.initials: M
authors.lastname: Hinzke
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism / Q000648:ultrastructure; D002885:Chromosomes, Human, Pair 16; D017930:Genes, Reporter; D006570:Heterochromatin / Q000378:metabolism*; D006801:Humans; D051379:Mice; D009154:Mutation; D041681:NIH 3T3 Cells; D017434:Protein Structure, Tertiary; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D014158:Transcription, Genetic; D016335:Zinc Fingers
chemical_list: D006570:Heterochromatin; D012097:Repressor Proteins; C104146:SALL1 protein, human; D014157:Transcription Factors