NIH VideoCast - Unraveling the basics of rare ectodermal disorders

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Unraveling the basics of rare ectodermal disorders

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Air date:	Friday, February 19, 2010, 12:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 115 * This only includes stats from October 2011 and forward.
Category:	NIH Director's Seminars
Runtime:	00:44:17
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	Dr. Morasso's research has focused in characterizing the regulation and function of Dlx3 homeobox transcription factor, a member of the murine Dlx family, with essential roles in epidermal, osteogenic and placental development. Dlx3 is specifically expressed in developing ectodermal appendages (hair, teeth, nail) as well as in developing bone (craniofacial and appendicular). The importance of Dlx3 in the patterning and development of ectodermal structures derived from epithelial-mesenchymal interactions during embryogenesis (i.e. tooth, hair) is corroborated by the effects of DLX3 mutations in patients with the autosomal dominant Tricho-Dento-Osseous (TDO) syndrome. Anomalies in epithelial/mesenchymal-derived organs are characteristics of a group of about 150 human heritable pathological disorders defined as ectodermal dysplasias (EDs). DLX3 is among the few genes for which mutations have been directly linked with EDs. Dr. Morasso's current work on the epidermal-conditional ablation of Dlx3 has determined the crucial role of this homeodomain transcription factor in epidermal stratification and hair development. Although Dlx3 has been implicated in skeletal development in the human autosomal dominant TDO syndrome, where the mutation is associated with defects in the intramembranous and endochondral bone (increased bone density), a direct role for Dlx3 in bone formation has not been identified. Up to now, our collaborative work has accumulated ex vivo evidence showing that Dlx3 induction coincides with the onset of commitment to osteogenic lineage, and that key markers of bone differentiation are regulated by Dlx3. Future projects will involve the analysis of mouse models (KO, Kin and transgenic) established in the laboratory to further elucidate the role of Dlx3 in bone formation and homeostasis. We are also performing analysis of conditional knockout lines to elucidate the signaling and regulatory pathways requiring normal Dlx3 function during embryogenesis. For more information, visit http://www.nih.gov/about/director/dirsem.htm

NLM Title:	Unraveling the basics of rare ectodermal disorders / Maria Morasso.
Author:	Morasso, Maria. National Institutes of Health (U.S.)
Publisher:
Abstract:	(CIT): Dr. Morasso's research has focused in characterizing the regulation and function of Dlx3 homeobox transcription factor, a member of the murine Dlx family, with essential roles in epidermal, osteogenic and placental development. Dlx3 is specifically expressed in developing ectodermal appendages (hair, teeth, nail) as well as in developing bone (craniofacial and appendicular). The importance of Dlx3 in the patterning and development of ectodermal structures derived from epithelial-mesenchymal interactions during embryogenesis (i.e. tooth, hair) is corroborated by the effects of DLX3 mutations in patients with the autosomal dominant Tricho-Dento-Osseous (TDO) syndrome. Anomalies in epithelial/mesenchymal-derived organs are characteristics of a group of about 150 human heritable pathological disorders defined as ectodermal dysplasias (EDs). DLX3 is among the few genes for which mutations have been directly linked with EDs. Dr. Morasso's current work on the epidermal-conditional ablation of Dlx3 has determined the crucial role of this homeodomain transcription factor in epidermal stratification and hair development. Although Dlx3 has been implicated in skeletal development in the human autosomal dominant TDO syndrome, where the mutation is associated with defects in the intramembranous and endochondral bone (increased bone density), a direct role for Dlx3 in bone formation has not been identified. Up to now, our collaborative work has accumulated ex vivo evidence showing that Dlx3 induction coincides with the onset of commitment to osteogenic lineage, and that key markers of bone differentiation are regulated by Dlx3. Future projects will involve the analysis of mouse models (KO, Kin and transgenic) established in the laboratory to further elucidate the role of Dlx3 in bone formation and homeostasis. We are also performing analysis of conditional knockout lines to elucidate the signaling and regulatory pathways requiring normal Dlx3 function during embryogenesis.
Subjects:	Ectodermal Dysplasia--genetics Gene Expression Regulation, Developmental--genetics Rare Diseases--genetics
Publication Types:	Lecture Webcast
NLM Classification:	WR 218
NLM ID:	101525649
CIT Live ID:	8543
Permanent link:	https://videocast.nih.gov/watch=8543

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