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  Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., et al. (2011). Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet, 88(1), 70-5. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21167467 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=276895&_user=28761&_pii=S0002929710005938&_check=y&_origin=article&_zone=toolbar&_coverDate=07-Jan-2011&view=c&originContentFamily=serial&wchp=dGLzVlV-zSkzS&md5=1e0d2c33fcb13c2c5a4fff5884303f09/1-s2.0-S0002929710005938-main.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-780E-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-780F-0
Genre: Journal Article

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Klopocki, E.1, Author              
Lohan, S., Author
Brancati, F., Author
Koll, R., Author
Brehm, A., Author
Seemann, P.1, Author              
Dathe, K., Author
Stricker, S.1, Author              
Hecht, J.1, Author              
Bosse, K., Author
Betz, R. C., Author
Garaci, F. G., Author
Dallapiccola, B., Author
Jain, M., Author
Muenke, M., Author
Ng, V. C., Author
Chan, W., Author
Chan, D., Author
Mundlos, S.1, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Animals; Conserved Sequence/genetics; Craniosynostoses/*genetics; *DNA Copy Number Variations; Female; Fingers/growth & development; *Gene Duplication; Gene Expression Regulation, Developmental/genetics; *Genetic Loci; Hedgehog Proteins/*genetics; Humans; Male; Mice; Mice, Transgenic; Mutation; Skull/growth & development; Syndactyly/*genetics
 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.

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Title: Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 88 (1) Sequence Number: - Start / End Page: 70 - 5 Identifier: ISSN: 1537-6605 (Electronic) 0002-9297 (Linking)