| Literature DB >> 21167467 |
Eva Klopocki1, Silke Lohan, Francesco Brancati, Randi Koll, Anja Brehm, Petra Seemann, Katarina Dathe, Sigmar Stricker, Jochen Hecht, Kristin Bosse, Regina C Betz, Francesco Giuseppe Garaci, Bruno Dallapiccola, Mahim Jain, Maximilian Muenke, Vivian C W Ng, Wilson Chan, Danny Chan, Stefan Mundlos.
Abstract
Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.Entities:
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Year: 2010 PMID： 21167467 PMCID： PMC3014361 DOI： 10.1016/j.ajhg.2010.11.006
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025