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Article: Long-range regulation at the SOX9 locus in development and disease

TitleLong-range regulation at the SOX9 locus in development and disease
Authors
Issue Date2009
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2009, v. 46 n. 10, p. 649-656 How to Cite?
AbstractThe involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex regulatory region controlling SOX9 transcription, involving ∼1 Mb of upstream sequence. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD. The translocation breakpoints upstream of SOX9 can now be clustered into three groups, with a trend towards less severe skeletal phenotypes as the distance of each cluster from SOX9 increases. In this review we discuss how the identification of novel lesions surrounding SOX9 support the existence of tissue specific enhancers acting over a large distance to regulate expression of the gene during craniofacial development, and we highlight the potential for discovery of additional regulatory elements within the extended SOX9 control region.
Persistent Identifierhttp://hdl.handle.net/10722/170423
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGordon, CTen_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorBenko, Sen_US
dc.contributor.authorFitzpatrick, Den_US
dc.contributor.authorLyonnet, Sen_US
dc.contributor.authorFarlie, PGen_US
dc.date.accessioned2012-10-30T06:08:26Z-
dc.date.available2012-10-30T06:08:26Z-
dc.date.issued2009en_US
dc.identifier.citationJournal Of Medical Genetics, 2009, v. 46 n. 10, p. 649-656en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/170423-
dc.description.abstractThe involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex regulatory region controlling SOX9 transcription, involving ∼1 Mb of upstream sequence. Recent data indicate that this regulatory domain may extend substantially further, with identification of several disruptions greater than 1 Mb upstream of SOX9 associated with isolated Pierre Robin sequence (PRS), a craniofacial disorder that is frequently a component of CD. The translocation breakpoints upstream of SOX9 can now be clustered into three groups, with a trend towards less severe skeletal phenotypes as the distance of each cluster from SOX9 increases. In this review we discuss how the identification of novel lesions surrounding SOX9 support the existence of tissue specific enhancers acting over a large distance to regulate expression of the gene during craniofacial development, and we highlight the potential for discovery of additional regulatory elements within the extended SOX9 control region.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subject.meshAnimalsen_US
dc.subject.meshCraniofacial Abnormalities - Geneticsen_US
dc.subject.meshEnhancer Elements, Geneticen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Expression Regulation, Developmentalen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiceen_US
dc.subject.meshMusculoskeletal Abnormalities - Geneticsen_US
dc.subject.meshSox9 Transcription Factor - Chemistry - Genetics - Physiologyen_US
dc.subject.meshTestis - Embryology - Metabolismen_US
dc.titleLong-range regulation at the SOX9 locus in development and diseaseen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1136/jmg.2009.068361en_US
dc.identifier.pmid19473998-
dc.identifier.scopuseid_2-s2.0-70349705754en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-70349705754&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume46en_US
dc.identifier.issue10en_US
dc.identifier.spage649en_US
dc.identifier.epage656en_US
dc.identifier.isiWOS:000270387200001-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridGordon, CT=8527340000en_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridBenko, S=26029762500en_US
dc.identifier.scopusauthoridFitzPatrick, D=24490849700en_US
dc.identifier.scopusauthoridLyonnet, S=35432935300en_US
dc.identifier.scopusauthoridFarlie, PG=6602502556en_US
dc.identifier.citeulike6579596-

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