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Genome-Wide profiling of p63 DNA-Binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus

By Evelyn N. Kouwenhoven, Simon J. Van Heeringen, Juan J. Tena, Martin Oti, Bas E. Dutilh, M. Eva, Elisa De La Calle-mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A. Huynen, Er Hoischen, Joris A. Veltman, Han G. Brunner, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-skarmeta and Hendrik G


Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA–binding profiling by chromatin immunoprecipitation (ChIP), followed by deep sequencing (ChIP–seq) in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in

Year: 2010
OAI identifier: oai:CiteSeerX.psu:
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