Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
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ABSTRACT:
SUBMITTER: Klopocki E
PROVIDER: S-EPMC3014361 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Klopocki Eva E Lohan Silke S Brancati Francesco F Koll Randi R Brehm Anja A Seemann Petra P Dathe Katarina K Stricker Sigmar S Hecht Jochen J Bosse Kristin K Betz Regina C RC Garaci Francesco Giuseppe FG Dallapiccola Bruno B Jain Mahim M Muenke Maximilian M Ng Vivian C W VC Chan Wilson W Chan Danny D Mundlos Stefan S
American journal of human genetics 20101217 1
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 ...[more]
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