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

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TitleCopy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
AuthorsKlopocki, E5 12
Lohan, S3 5 12
Brancati, F7 8 10
Koll, R12
Brehm, A3 5 12
Seemann, P6
Dathe, K5 12
Stricker, S5 12
Hecht, J6
Bosse, K11
Betz, RC2
Garaci, FG8
Dallapiccola, B1
Jain, M4
Muenke, M4
Ng, VCW9
Chan, W9
Chan, D9
Mundlos, S5 6 12
Issue Date2011
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
CitationAmerican Journal Of Human Genetics, 2011, v. 88 n. 1, p. 70-75 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ajhg.2010.11.006
AbstractIndian 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. © 2011 The American Society of Human Genetics.
ISSN0002-9297
2011 Impact Factor: 10.603
2011 SCImago Journal Rankings: 2.479
DOIhttp://dx.doi.org/10.1016/j.ajhg.2010.11.006
PubMed Central IDPMC3014361
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorKlopocki, E
dc.contributor.authorLohan, S
dc.contributor.authorBrancati, F
dc.contributor.authorKoll, R
dc.contributor.authorBrehm, A
dc.contributor.authorSeemann, P
dc.contributor.authorDathe, K
dc.contributor.authorStricker, S
dc.contributor.authorHecht, J
dc.contributor.authorBosse, K
dc.contributor.authorBetz, RC
dc.contributor.authorGaraci, FG
dc.contributor.authorDallapiccola, B
dc.contributor.authorJain, M
dc.contributor.authorMuenke, M
dc.contributor.authorNg, VCW
dc.contributor.authorChan, W
dc.contributor.authorChan, D
dc.contributor.authorMundlos, S
dc.date.accessioned2011-08-26T14:18:56Z
dc.date.available2011-08-26T14:18:56Z
dc.date.issued2011
dc.description.abstractIndian 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. © 2011 The American Society of Human Genetics.
dc.description.naturelink_to_OA_fulltext
dc.identifier.citationAmerican Journal Of Human Genetics, 2011, v. 88 n. 1, p. 70-75 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ajhg.2010.11.006
dc.identifier.citeulike8696876
dc.identifier.doihttp://dx.doi.org/10.1016/j.ajhg.2010.11.006
dc.identifier.epage75
dc.identifier.hkuros189593
dc.identifier.isiWOS:000286501500006
Funding AgencyGrant Number
Deutsche ForschungsgemeinschaftKL 2158/2-1
University Grants Council of Hong KongAoE 04/04
General Research Grant of Hong KongHKU760608M
Funding Information:

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. We thank Douglas P. Mortlock for generously providing us with the vector pSfi-Hsp68lacZ. We acknowledge Fabienne Trotier for excellent technical assistance.

dc.identifier.issn0002-9297
2011 Impact Factor: 10.603
2011 SCImago Journal Rankings: 2.479
dc.identifier.issue1
dc.identifier.pmcidPMC3014361
dc.identifier.pmid21167467
dc.identifier.scopuseid_2-s2.0-78650911222
dc.identifier.spage70
dc.identifier.urihttp://hdl.handle.net/10722/137209
dc.identifier.volume88
dc.languageeng
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
dc.publisher.placeUnited States
dc.relation.ispartofAmerican Journal of Human Genetics
dc.relation.referencesReferences in Scopus
dc.subject.meshCraniosynostoses - genetics
dc.subject.meshDNA Copy Number Variations
dc.subject.meshGene Duplication
dc.subject.meshGenetic Loci
dc.subject.meshHedgehog Proteins - genetics
dc.titleCopy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
dc.typeArticle
Author Affiliations
  1. null
  2. Universität Bonn
  3. Freie Universität Berlin
  4. National Human Genome Research Institute
  5. Max Planck Institute for Molecular Genetics
  6. Berlin-Brandenburg Center for Regenerative Therapies (BCRT)
  7. IRCCS Casa Sollievo della Sofferenza
  8. Università degli Studi di Roma Tor Vergata
  9. The University of Hong Kong
  10. University of G. d'Annunzio Chieti and Pescara
  11. null
  12. null