Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216305%3A26620%2F17%3APU125189" target="_blank" >RIV/00216305:26620/17:PU125189 - isvavai.cz</a>

Alternative codes found

RIV/67985904:_____/18:00485269 RIV/00216224:14310/18:00102436

Result on the web

<a href="http://journals.sagepub.com/doi/abs/10.1177/0022034517732538" target="_blank" >http://journals.sagepub.com/doi/abs/10.1177/0022034517732538</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1177/0022034517732538" target="_blank" >10.1177/0022034517732538</a>

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, Meckel-Gruber 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. Detailed analysis of primary cilia revealed region-specific changes in ciliary morphology accompanied by alteration of acetylated tubulin and IFT88 expression. 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 t

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10602 - Biology (theoretical, mathematical, thermal, cryobiology, biological rhythm), Evolutionary biology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

JOURNAL OF DENTAL RESEARCH

ISSN

0022-0345

e-ISSN

1544-0591

Volume of the periodical

1

Issue of the periodical within the volume

10

Country of publishing house

US - UNITED STATES

Number of pages

40

Pages from-to

1-40

UT code for WoS article

000418548700014

EID of the result in the Scopus database

2-s2.0-85038833183