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Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

SYSNO ASEP	0485269
Druh ASEP	J - Článek v odborném periodiku
Zařazení RIV	J - Článek v odborném periodiku
Poddruh J	Článek ve WOS
Název	Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
Tvůrce(i)	Celá, Petra (UZFG-Y)_RID Hampl, Marek (UZFG-Y)_ORCID Shylo, N. (US) Christopher, K. J. (US) Kavková, M. (CZ) Landová, Marie (UZFG-Y)_ORCID Zikmund, T. (CZ) Weatherbee, S. D. (US) Kaiser, J. (CZ) Buchtová, Marcela (UZFG-Y)_{RID, ORCID}
Zdroj.dok.	Journal of Dental Research. - : Sage - ISSN 0022-0345 Roč. 97, č. 1 (2018), s. 108-117
Poč.str.	10 s.
Jazyk dok.	eng - angličtina
Země vyd.	US - Spojené státy americké
Klíč. slova	craniofacial anomalies ; growth/development ; mineralized tissue/development ; orofacial clefts ; cell signaling
Vědní obor RIV	FF - ORL, oftalmologie, stomatologie
Obor OECD	Dentistry, oral surgery and medicine
CEP	GB14-37368G GA ČR - Grantová agentura ČR
	EF15_003/0000460 GA MŠMT - Ministerstvo školství, mládeže a tělovýchovy
Institucionální podpora	UZFG-Y - RVO:67985904
UT WOS	000418548700014
EID SCOPUS	85038833183
DOI	10.1177/0022034517732538
Anotace	A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, MeckelGruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects. Here, we analyze a role of Tmem107 in craniofacial development with special focus on palate formation, using mouse embryos with a complete knockout of Tmem107. Tmem107(-/-) mice were affected by a broad spectrum of craniofacial defects, including shorter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia. External abnormalities were accompanied by defects in skeletal structures, including ossification delay in several membranous bones and enlargement of the nasal septum or defects in vomeronasal cartilage. Alteration in palatal shelves growth resulted in clefting of the secondary palate. Palatal defects were caused by increased mesenchymal proliferation leading to early overgrowth of palatal shelves followed by defects in their horizontalization. Moreover, the expression of epithelial stemness marker SOX2 was altered in the palatal shelves of Tmem107(-/-) animals, and differences in mesenchymal SOX9 expression demonstrated the enhancement of neural crest migration. Moreover, Shh and Gli1 expression was increased in Tmem107(-/-) animals as shown by in situ hybridization. Thus, TMEM107 is essential for proper head development, and defective TMEM107 function leads to ciliary morphology disruptions in a region-specific manner, which may explain the complex mutant phenotype.
Pracoviště	Ústav živočišné fyziologie a genetiky
Kontakt	Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554
Rok sběru	2019

Počet záznamů: 1