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

TitleCopy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
Authors
Klopocki, ELohan, SBrancati, FKoll, RBrehm, ASeemann, PDathe, KStricker, SHecht, JBosse, KBetz, RCGaraci, FGDallapiccola, BJain, MMuenke, MNg, VCWChan, WChan, DMundlos, S
Issue Date2011
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American 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.
Persistent Identifierhttp://hdl.handle.net/10722/137209
ISSN
0002-9297
2023 Impact Factor: 8.1
2023 SCImago Journal Rankings: 4.516
PubMed Central ID
PMC3014361
ISI Accession Number ID
WOS: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.

References
References in Scopus
Grants
Developmental genomics and skeletal research

 

DC FieldValueLanguage
dc.contributor.authorKlopocki, Een_HK
dc.contributor.authorLohan, Sen_HK
dc.contributor.authorBrancati, Fen_HK
dc.contributor.authorKoll, Ren_HK
dc.contributor.authorBrehm, Aen_HK
dc.contributor.authorSeemann, Pen_HK
dc.contributor.authorDathe, Ken_HK
dc.contributor.authorStricker, Sen_HK
dc.contributor.authorHecht, Jen_HK
dc.contributor.authorBosse, Ken_HK
dc.contributor.authorBetz, RCen_HK
dc.contributor.authorGaraci, FGen_HK
dc.contributor.authorDallapiccola, Ben_HK
dc.contributor.authorJain, Men_HK
dc.contributor.authorMuenke, Men_HK
dc.contributor.authorNg, VCWen_HK
dc.contributor.authorChan, Wen_HK
dc.contributor.authorChan, Den_HK
dc.contributor.authorMundlos, Sen_HK
dc.date.accessioned2011-08-26T14:18:56Z-
dc.date.available2011-08-26T14:18:56Z-
dc.date.issued2011en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 2011, v. 88 n. 1, p. 70-75en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/137209-
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.en_HK
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
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 craniosynostosisen_HK
dc.typeArticleen_HK
dc.identifier.emailChan, D:chand@hkucc.hku.hken_HK
dc.identifier.authorityChan, D=rp00540en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1016/j.ajhg.2010.11.006en_HK
dc.identifier.pmid21167467-
dc.identifier.pmcidPMC3014361-
dc.identifier.scopuseid_2-s2.0-78650911222en_HK
dc.identifier.hkuros189593en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-78650911222&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume88en_HK
dc.identifier.issue1en_HK
dc.identifier.spage70en_HK
dc.identifier.epage75en_HK
dc.identifier.eissn1537-6605-
dc.identifier.isiWOS:000286501500006-
dc.publisher.placeUnited Statesen_HK
dc.relation.projectDevelopmental genomics and skeletal research-
dc.identifier.scopusauthoridKlopocki, E=12802431300en_HK
dc.identifier.scopusauthoridLohan, S=37034505600en_HK
dc.identifier.scopusauthoridBrancati, F=35298444000en_HK
dc.identifier.scopusauthoridKoll, R=35976319500en_HK
dc.identifier.scopusauthoridBrehm, A=26431210600en_HK
dc.identifier.scopusauthoridSeemann, P=8526898500en_HK
dc.identifier.scopusauthoridDathe, K=26431347600en_HK
dc.identifier.scopusauthoridStricker, S=7005436014en_HK
dc.identifier.scopusauthoridHecht, J=24343662200en_HK
dc.identifier.scopusauthoridBosse, K=7004655903en_HK
dc.identifier.scopusauthoridBetz, RC=35445657200en_HK
dc.identifier.scopusauthoridGaraci, FG=6602761913en_HK
dc.identifier.scopusauthoridDallapiccola, B=35375208700en_HK
dc.identifier.scopusauthoridJain, M=24577367500en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK
dc.identifier.scopusauthoridNg, VCW=8215749500en_HK
dc.identifier.scopusauthoridChan, W=37033528800en_HK
dc.identifier.scopusauthoridChan, D=7402216545en_HK
dc.identifier.scopusauthoridMundlos, S=7005248176en_HK
dc.identifier.citeulike8696876-
dc.identifier.issnl0002-9297-

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