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Conference Paper: Identification and characterization of long-range SOX9 enhancers in limb development
Title | Identification and characterization of long-range SOX9 enhancers in limb development |
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Authors | |
Issue Date | 2013 |
Publisher | The 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? |
Abstract | The 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 Identifier | http://hdl.handle.net/10722/189753 |
DC Field | Value | Language |
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dc.contributor.author | Yip, RKH | en_US |
dc.contributor.author | Wu, MH | en_US |
dc.contributor.author | Hui, CC | en_US |
dc.contributor.author | Chan, D | en_US |
dc.contributor.author | Cheah, KSE | en_US |
dc.contributor.author | Cheung, M | en_US |
dc.date.accessioned | 2013-09-17T14:56:04Z | - |
dc.date.available | 2013-09-17T14:56:04Z | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | The 2013 Hong Kong Inter-University Biochemistry Postgraduate Symposium, Hong Kong, 15 June 2013. In Symposium Booklet, 2013, abstract P15 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/189753 | - |
dc.description.abstract | The 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.language | eng | en_US |
dc.publisher | The Chinese University of Hong Kong. | - |
dc.relation.ispartof | Hong Kong Inter-University 2013 Biochemistry Postgraduate Symposium | en_US |
dc.title | Identification and characterization of long-range SOX9 enhancers in limb development | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Yip, RKH: rayyip@hku.hk | en_US |
dc.identifier.email | Wu, MH: ronmhwu@hkucc.hku.hk | en_US |
dc.identifier.email | Hui, CC: cchuilab@hku.hk | en_US |
dc.identifier.email | Chan, D: chand@hku.hk | en_US |
dc.identifier.email | Cheah, KSE: hrmbdkc@hku.hk | en_US |
dc.identifier.email | Cheung, M: mcheung9@hku.hk | - |
dc.identifier.authority | Chan, D=rp00540 | en_US |
dc.identifier.authority | Cheah, KSE=rp00342 | en_US |
dc.identifier.authority | Cheung, M=rp00245 | en_US |
dc.description.nature | postprint | - |
dc.identifier.hkuros | 224441 | en_US |
dc.identifier.hkuros | 240469 | - |
dc.publisher.place | Hong Kong | - |