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          Document History for Document ID 538366

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Document Version Version Comment Date Status
538366.0 [No comment] 08.03.2011 13:59 Released

ID: 538366.0, MPI für molekulare Genetik / Research Group Development and Disease
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Authors:Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.
Language:English
Research Context:This work was supported by a grant from the Deutsche Forschungsgemeinschaft to E.K., K.D., and S.M. (KL 2158/2-1) and by funding from the University Grants Council (AoE 04/04) and the General Research Grant (HKU760608M) of Hong Kong.
Date of Publication (YYYY-MM-DD):2011-01-07
Title of Journal:American Journal of Human Genetics
Journal Abbrev.:Am J Hum Genet
Volume:88
Issue / Number:1
Start Page:70
End Page:75
Copyright:© 2010, Elsevier
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
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
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institute for Medical Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;
2.Freie Universität Berlin, 14195 Berlin, Germany;
3.IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, 00198 Rome, Italy;
4.Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353 Berlin, Germany;
5.Division of Molecular-Gynecology, Department of Obstetrics and Gynecology, University hospital of Cologne, 50924 Cologne, Germany;
6.Institute of Human Genetics, University of Bonn, 53105 Bonn, Germany;
7.Department of Diagnostic Imaging and Interventional Radiology, University of Tor Vergata, 00133 Rome, Italy;
8.Bambino Gesù Children Hospital, IRCCS, 00198 Rome, Italy;
9.Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA;
10.Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, China;
11.Department of Biopathology, Tor Vergata University, 00198 Rome, Italy;
12.Department of Biomedical Sciences, Gabriele D'Annunzio University, 66013 Chieti, Italy.
Identifiers:ISSN:0002-9297 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/21167467 [ID No:2]
DOI:i:10.1016/j.ajhg.2010.11.006 [ID No:3]
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