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Conference Paper: SUFU-GLI-SOX10 in enteric nervous system development and Hirschsprung disease

TitleSUFU-GLI-SOX10 in enteric nervous system development and Hirschsprung disease
Authors
Issue Date2015
PublisherInternational Society for Stem Cell Research. The Conference abstracts' website is located at http://www.isscr.org/home/annual-meeting/past-future-meetings
Citation
The 13th Annual Meeting of the International Society for Stem Cell Research (ISSCR 2015), Stockholm, Sweden, 24-27 June 2015. In Poster Abstracts Book, 2015, p. 82, abstract W-1216 How to Cite?
AbstractHirschsprung (HSCR) disease is defined by deficit of enteric neurons, which are derived from neural crest cells (NCC). Aberrant glial differentiation of NCCs represents a possible cause of HSCR, but the gene machinery involved remains unclear. Here we identify several mutations in GLI1-3 in HSCR patients that all lead to increased GLI transcriptional activity on Sox10 expression. We show Sufu-Gli expression is dynamically regulated during NCC differentiation and correlates with the segregation into neurons and glia. Importantly, Sufu-Gli and Sox10 form a regulatory loop to control neuronal versus glial lineage differentiation and migration of NCCs. Aberrantly high Gli activity caused by loss of Sufu disturbs the reciprocal balance of Sufu-Gli and Sox10, resulting in disrupted enteric NCC chain migration, defective axonal fasciculation and intestinal hypoganglionosis. Collectively, GLI mutations were identified for the first time in HSCR patients, and perturbed Sufu-Gli-Sox10 regulatory nexus contributes to HSCR pathogenesis in mouse and human.
DescriptionMeeting Theme: An Unveiling of Stem Cell Innovation
Wednesday Poster: no. W-1216
Persistent Identifierhttp://hdl.handle.net/10722/215340

 

DC FieldValueLanguage
dc.contributor.authorLui, JAJ-
dc.contributor.authorHui, CC-
dc.contributor.authorNgan, E-
dc.date.accessioned2015-08-21T13:22:35Z-
dc.date.available2015-08-21T13:22:35Z-
dc.date.issued2015-
dc.identifier.citationThe 13th Annual Meeting of the International Society for Stem Cell Research (ISSCR 2015), Stockholm, Sweden, 24-27 June 2015. In Poster Abstracts Book, 2015, p. 82, abstract W-1216-
dc.identifier.urihttp://hdl.handle.net/10722/215340-
dc.descriptionMeeting Theme: An Unveiling of Stem Cell Innovation-
dc.descriptionWednesday Poster: no. W-1216-
dc.description.abstractHirschsprung (HSCR) disease is defined by deficit of enteric neurons, which are derived from neural crest cells (NCC). Aberrant glial differentiation of NCCs represents a possible cause of HSCR, but the gene machinery involved remains unclear. Here we identify several mutations in GLI1-3 in HSCR patients that all lead to increased GLI transcriptional activity on Sox10 expression. We show Sufu-Gli expression is dynamically regulated during NCC differentiation and correlates with the segregation into neurons and glia. Importantly, Sufu-Gli and Sox10 form a regulatory loop to control neuronal versus glial lineage differentiation and migration of NCCs. Aberrantly high Gli activity caused by loss of Sufu disturbs the reciprocal balance of Sufu-Gli and Sox10, resulting in disrupted enteric NCC chain migration, defective axonal fasciculation and intestinal hypoganglionosis. Collectively, GLI mutations were identified for the first time in HSCR patients, and perturbed Sufu-Gli-Sox10 regulatory nexus contributes to HSCR pathogenesis in mouse and human.-
dc.languageeng-
dc.publisherInternational Society for Stem Cell Research. The Conference abstracts' website is located at http://www.isscr.org/home/annual-meeting/past-future-meetings-
dc.relation.ispartofAnnual Meeting of the International Society for Stem Cell Research, ISSCR 2015-
dc.titleSUFU-GLI-SOX10 in enteric nervous system development and Hirschsprung disease-
dc.typeConference_Paper-
dc.identifier.emailHui, CC: cchuilab@hku.hk-
dc.identifier.emailNgan, E: engan@hku.hk-
dc.identifier.authorityNgan, E=rp00422-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros248594-
dc.identifier.spage82, abstract W-1216-
dc.identifier.epage82, abstract W-1216-
dc.publisher.placeSweden-

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