Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F18%3A00485269" target="_blank" >RIV/67985904:_____/18:00485269 - isvavai.cz</a>
Alternative codes found
RIV/00216305:26620/17:PU125189 RIV/00216224:14310/18:00102436
Result on the web
<a href="http://dx.doi.org/10.1177/0022034517732538" target="_blank" >http://dx.doi.org/10.1177/0022034517732538</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1177/0022034517732538" target="_blank" >10.1177/0022034517732538</a>
Alternative languages
Result language
angličtina
Original language name
Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10605 - Developmental biology
Result continuities
Project
<a href="/en/project/EF15_003%2F0000460" target="_blank" >EF15_003/0000460: EXCELLENCE in Molecular Aspects of the early development of vertebrates</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Dental Research
ISSN
0022-0345
e-ISSN
—
Volume of the periodical
97
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
108-117
UT code for WoS article
000418548700014
EID of the result in the Scopus database
2-s2.0-85038833183