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Biochim Biophys Acta. 2006 Mar;1762(3):386-91. Epub 2006 Jan 6.

Defining the heterochromatin localization and repression domains of SALL1.

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  • 1Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111 Bonn, Germany.


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.

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