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Conference Paper: Identification and characterization of long-range SOX9 enhancers in limb development

TitleIdentification and characterization of long-range SOX9 enhancers in limb development
Authors
Issue Date2013
PublisherThe Chinese University of Hong Kong.
Citation
The 2013 Hong Kong Inter-University Biochemistry Postgraduate Symposium, Hong Kong, 15 June 2013. In Symposium Booklet, 2013, abstract P15 How to Cite?
AbstractThe transcription factor Sox9 is a master regulator of skeletogenesis. Heterozygous mutations of human SOX9 result in Campomelic Dysplasia (CD), in which affected individuals display distinct abnormalities in limbs and other skeletal assemblies. Recently, chromosomal translocations and deletions at >1Mb from SOX9 have been detected in some CD patients, suggesting the requirement of long‐range regulatory elements in mediating both spatiotemporal and dosage of Sox9 during limb development. To this end, we exploited several published ChIP‐Seq data, and identified nine, evolutionarily conserved, putative limb enhancers of SOX9, namely E1Sox9 to E9Sox9. Transgenic mouse embryos carrying E1Sox9‐driven LacZ reporter showed discrete transgene expression at the pre‐scapular domain where endogenous Sox9 is also expressed. Bioinformatic analyses on our candidate enhancers result in the identification of several signaling effector binding motifs, and indeed, we revealed that BMP‐Smad and Shh‐Gli pathways are possible upstream regulatory networks that govern the spatiotemporal and dosage of limb Sox9 expression via our predicted enhancers, respectively. Our results unveil the underlying molecular control in governing the complex patterning of Sox9 expression in the developing limb, and provide new molecular insight to the etiology of CD syndrome.
Persistent Identifierhttp://hdl.handle.net/10722/189753

 

DC FieldValueLanguage
dc.contributor.authorYip, RKHen_US
dc.contributor.authorWu, MHen_US
dc.contributor.authorHui, CCen_US
dc.contributor.authorChan, Den_US
dc.contributor.authorCheah, KSEen_US
dc.contributor.authorCheung, Men_US
dc.date.accessioned2013-09-17T14:56:04Z-
dc.date.available2013-09-17T14:56:04Z-
dc.date.issued2013-
dc.identifier.citationThe 2013 Hong Kong Inter-University Biochemistry Postgraduate Symposium, Hong Kong, 15 June 2013. In Symposium Booklet, 2013, abstract P15en_US
dc.identifier.urihttp://hdl.handle.net/10722/189753-
dc.description.abstractThe transcription factor Sox9 is a master regulator of skeletogenesis. Heterozygous mutations of human SOX9 result in Campomelic Dysplasia (CD), in which affected individuals display distinct abnormalities in limbs and other skeletal assemblies. Recently, chromosomal translocations and deletions at >1Mb from SOX9 have been detected in some CD patients, suggesting the requirement of long‐range regulatory elements in mediating both spatiotemporal and dosage of Sox9 during limb development. To this end, we exploited several published ChIP‐Seq data, and identified nine, evolutionarily conserved, putative limb enhancers of SOX9, namely E1Sox9 to E9Sox9. Transgenic mouse embryos carrying E1Sox9‐driven LacZ reporter showed discrete transgene expression at the pre‐scapular domain where endogenous Sox9 is also expressed. Bioinformatic analyses on our candidate enhancers result in the identification of several signaling effector binding motifs, and indeed, we revealed that BMP‐Smad and Shh‐Gli pathways are possible upstream regulatory networks that govern the spatiotemporal and dosage of limb Sox9 expression via our predicted enhancers, respectively. Our results unveil the underlying molecular control in governing the complex patterning of Sox9 expression in the developing limb, and provide new molecular insight to the etiology of CD syndrome.-
dc.languageengen_US
dc.publisherThe Chinese University of Hong Kong.-
dc.relation.ispartofHong Kong Inter-University Biochemistry Postgraduate Symposiumen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleIdentification and characterization of long-range SOX9 enhancers in limb developmenten_US
dc.typeConference_Paperen_US
dc.identifier.emailYip, RKH: rayyip@hku.hken_US
dc.identifier.emailWu, MH: ronmhwu@hkucc.hku.hken_US
dc.identifier.emailHui, CC: cchuilab@hku.hken_US
dc.identifier.emailChan, D: chand@hku.hken_US
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_US
dc.identifier.emailCheung, M: mcheung9@hku.hk-
dc.identifier.authorityChan, D=rp00540en_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.identifier.authorityCheung, M=rp00245en_US
dc.description.naturepostprint-
dc.identifier.hkuros224441en_US
dc.identifier.hkuros240469-
dc.publisher.placeHong Kong-

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