File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
  • Basic View
  • Metadata View
  • XML View
TitleCopy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
 
AuthorsKlopocki, E12 4
Lohan, S12 4 3
Brancati, F7 10 9
Koll, R12
Brehm, A12 4 3
Seemann, P6
Dathe, K12 4
Stricker, S12 4
Hecht, J6
Bosse, K11
Betz, RC2
Garaci, FG9
Dallapiccola, B1
Jain, M5
Muenke, M5
Ng, VCW8
Chan, W8
Chan, D8
Mundlos, S12 6 4
 
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
2013 Impact Factor: 10.987
 
DOIhttp://dx.doi.org/10.1016/j.ajhg.2010.11.006
 
PubMed Central IDPMC3014361
 
ISI Accession Number IDWOS: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.

 
ReferencesReferences in Scopus
 
DC FieldValue
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.eissn1537-6605
 
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
2013 Impact Factor: 10.987
 
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
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Klopocki, E</contributor.author>
<contributor.author>Lohan, S</contributor.author>
<contributor.author>Brancati, F</contributor.author>
<contributor.author>Koll, R</contributor.author>
<contributor.author>Brehm, A</contributor.author>
<contributor.author>Seemann, P</contributor.author>
<contributor.author>Dathe, K</contributor.author>
<contributor.author>Stricker, S</contributor.author>
<contributor.author>Hecht, J</contributor.author>
<contributor.author>Bosse, K</contributor.author>
<contributor.author>Betz, RC</contributor.author>
<contributor.author>Garaci, FG</contributor.author>
<contributor.author>Dallapiccola, B</contributor.author>
<contributor.author>Jain, M</contributor.author>
<contributor.author>Muenke, M</contributor.author>
<contributor.author>Ng, VCW</contributor.author>
<contributor.author>Chan, W</contributor.author>
<contributor.author>Chan, D</contributor.author>
<contributor.author>Mundlos, S</contributor.author>
<date.accessioned>2011-08-26T14:18:56Z</date.accessioned>
<date.available>2011-08-26T14:18:56Z</date.available>
<date.issued>2011</date.issued>
<identifier.citation>American Journal Of Human Genetics, 2011, v. 88 n. 1, p. 70-75</identifier.citation>
<identifier.issn>0002-9297</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/137209</identifier.uri>
<description.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. &#169; 2011 The American Society of Human Genetics.</description.abstract>
<language>eng</language>
<publisher>Cell Press. The Journal&apos;s web site is located at http://www.cell.com/AJHG/</publisher>
<relation.ispartof>American Journal of Human Genetics</relation.ispartof>
<subject.mesh>Craniosynostoses - genetics</subject.mesh>
<subject.mesh>DNA Copy Number Variations</subject.mesh>
<subject.mesh>Gene Duplication</subject.mesh>
<subject.mesh>Genetic Loci</subject.mesh>
<subject.mesh>Hedgehog Proteins - genetics</subject.mesh>
<title>Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis</title>
<type>Article</type>
<description.nature>link_to_OA_fulltext</description.nature>
<identifier.doi>10.1016/j.ajhg.2010.11.006</identifier.doi>
<identifier.pmid>21167467</identifier.pmid>
<identifier.pmcid>PMC3014361</identifier.pmcid>
<identifier.scopus>eid_2-s2.0-78650911222</identifier.scopus>
<identifier.hkuros>189593</identifier.hkuros>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-78650911222&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>88</identifier.volume>
<identifier.issue>1</identifier.issue>
<identifier.spage>70</identifier.spage>
<identifier.epage>75</identifier.epage>
<identifier.eissn>1537-6605</identifier.eissn>
<identifier.isi>WOS:000286501500006</identifier.isi>
<publisher.place>United States</publisher.place>
<identifier.citeulike>8696876</identifier.citeulike>
<bitstream.url>http://hub.hku.hk/bitstream/10722/137209/1/re01.htm</bitstream.url>
</item>
Author Affiliations
  1. null
  2. Universität Bonn
  3. Freie Universität Berlin
  4. Max Planck Institute for Molecular Genetics
  5. National Human Genome Research Institute
  6. Berlin-Brandenburg Center for Regenerative Therapies (BCRT)
  7. IRCCS Casa Sollievo della Sofferenza
  8. The University of Hong Kong
  9. Università degli Studi di Roma Tor Vergata
  10. University of G. d'Annunzio Chieti and Pescara
  11. null
  12. null