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Article: SOX9 directly regulates the type-II collagen gene

TitleSOX9 directly regulates the type-II collagen gene
Authors
Issue Date1997
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1997, v. 16 n. 2, p. 174-178 How to Cite?
AbstractMutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex reversal. During chondrogenesis in the mouse, Sox9 is co-expressed with Col2a1 the gene encoding type-II collagen, the major cartilage matrix protein. Col2a1 is therefore a candidate regulatory target of SOX9. Regulatory sequences required for chondrocyte-specific expression of the type-II collagen gene have been localized to conserved sequences in the first intron in rats, mice and humans. We show here that SOX9 protein binds specifically to sequences in the first intron of human COL2A1. Mutation of these sequences abolishes SOX9 binding and chondrocyte-specific expression of a COL2A1-driven reporter gene (COL2A1-lacZ) in transgenic mice. Furthermore, ectopic expression of Sox9 trans-activates both a COL2A1-driven reporter gene and the endogenous Col2a1 gene in transgenic mice. These results demonstrate that COL2A1 expression is directly regulated by SOX9 protein in vivo and implicate abnormal regulation of COL2A1 during chondrogenesis as a cause of the skeletal abnormalities associated with campomelic dysplasia.
Persistent Identifierhttp://hdl.handle.net/10722/147420
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBell, DMen_US
dc.contributor.authorLeung, KKHen_US
dc.contributor.authorWheatley, SCen_US
dc.contributor.authorLing Jim Ngen_US
dc.contributor.authorZhou, Sen_US
dc.contributor.authorKam Wing Lingen_US
dc.contributor.authorMai Har Shamen_US
dc.contributor.authorKoopman, Pen_US
dc.contributor.authorTam, PPLen_US
dc.contributor.authorCheah, KSEen_US
dc.date.accessioned2012-05-29T06:03:36Z-
dc.date.available2012-05-29T06:03:36Z-
dc.date.issued1997en_US
dc.identifier.citationNature Genetics, 1997, v. 16 n. 2, p. 174-178en_US
dc.identifier.issn1061-4036en_US
dc.identifier.urihttp://hdl.handle.net/10722/147420-
dc.description.abstractMutations in human SOX9 are associated with campomelic dysplasia (CD), characterised by skeletal malformation and XY sex reversal. During chondrogenesis in the mouse, Sox9 is co-expressed with Col2a1 the gene encoding type-II collagen, the major cartilage matrix protein. Col2a1 is therefore a candidate regulatory target of SOX9. Regulatory sequences required for chondrocyte-specific expression of the type-II collagen gene have been localized to conserved sequences in the first intron in rats, mice and humans. We show here that SOX9 protein binds specifically to sequences in the first intron of human COL2A1. Mutation of these sequences abolishes SOX9 binding and chondrocyte-specific expression of a COL2A1-driven reporter gene (COL2A1-lacZ) in transgenic mice. Furthermore, ectopic expression of Sox9 trans-activates both a COL2A1-driven reporter gene and the endogenous Col2a1 gene in transgenic mice. These results demonstrate that COL2A1 expression is directly regulated by SOX9 protein in vivo and implicate abnormal regulation of COL2A1 during chondrogenesis as a cause of the skeletal abnormalities associated with campomelic dysplasia.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_US
dc.relation.ispartofNature Geneticsen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshCartilage - Embryologyen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshGene Expression Regulation, Developmental - Physiologyen_US
dc.subject.meshHigh Mobility Group Proteins - Physiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshMiceen_US
dc.subject.meshMice, Transgenicen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshRatsen_US
dc.subject.meshSox9 Transcription Factoren_US
dc.subject.meshTranscription Factors - Physiologyen_US
dc.titleSOX9 directly regulates the type-II collagen geneen_US
dc.typeArticleen_US
dc.identifier.emailLeung, KKH:keithlee@hku.hken_US
dc.identifier.emailMai Har Sham:mhsham@hkucc.hku.hken_US
dc.identifier.emailCheah, KSE:hrmbdkc@hku.hken_US
dc.identifier.authorityLeung, KKH=rp00298en_US
dc.identifier.authorityMai Har Sham=rp00380en_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/ng0697-174en_US
dc.identifier.pmid9171829-
dc.identifier.scopuseid_2-s2.0-0031003272en_US
dc.identifier.hkuros25438-
dc.identifier.volume16en_US
dc.identifier.issue2en_US
dc.identifier.spage174en_US
dc.identifier.epage178en_US
dc.identifier.isiWOS:A1997XB54300018-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridBell, DM=7403648027en_US
dc.identifier.scopusauthoridLeung, KKH=7401860467en_US
dc.identifier.scopusauthoridWheatley, SC=36959255000en_US
dc.identifier.scopusauthoridLing Jim Ng=7409711856en_US
dc.identifier.scopusauthoridZhou, S=7404166224en_US
dc.identifier.scopusauthoridKam Wing Ling=17635134800en_US
dc.identifier.scopusauthoridMai Har Sham=7003729109en_US
dc.identifier.scopusauthoridKoopman, P=7102712085en_US
dc.identifier.scopusauthoridTam, PPL=7202539412en_US
dc.identifier.scopusauthoridCheah, KSE=35387746200en_US
dc.identifier.citeulike8898206-

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