Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F24%3A00587905" target="_blank" >RIV/67985904:_____/24:00587905 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/68378050:_____/24:00587905 RIV/00216224:14310/24:00136267

Výsledek na webu

<a href="https://journals.biologists.com/dmm/article/17/6/dmm050261/358081/Early-embryogenesis-in-CHDFIDD-mouse-model-reveals" target="_blank" >https://journals.biologists.com/dmm/article/17/6/dmm050261/358081/Early-embryogenesis-in-CHDFIDD-mouse-model-reveals</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1242/dmm.050261" target="_blank" >10.1242/dmm.050261</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Popis výsledku v původním jazyce

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD) is associated with mutations in the CDK13 gene encoding transcription-regulating cyclin-dependent kinase 13 (CDK13). Here, we focused on the development of craniofacial structures and analyzed early embryonic stages in CHDFIDD mouse models, with one model comprising a hypomorphic mutation in Cdk13 and exhibiting cleft lip/palate, and another model comprising knockout of Cdk13 , featuring a stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically expressed at high levels in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme. We also uncovered that Cdk13 deficiency leads to development of hypoplastic branches of the trigeminal nerve including the maxillary branch. Additionally, we detected significant changes in the expression levels of genes involved in neurogenesis ( Ache , Dcx , Mef2c , Neurog1 , Ntn1, Pou4f1 ) within the developing palatal shelves. These results, together with changes in the expression pattern of other key facespecific genes ( Fgf8, Foxd1 , Msx1 , Meis2 and Shh ) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in the regulation of craniofacial morphogenesis.

Název v anglickém jazyce

Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis

Popis výsledku anglicky

CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD) is associated with mutations in the CDK13 gene encoding transcription-regulating cyclin-dependent kinase 13 (CDK13). Here, we focused on the development of craniofacial structures and analyzed early embryonic stages in CHDFIDD mouse models, with one model comprising a hypomorphic mutation in Cdk13 and exhibiting cleft lip/palate, and another model comprising knockout of Cdk13 , featuring a stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically expressed at high levels in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme. We also uncovered that Cdk13 deficiency leads to development of hypoplastic branches of the trigeminal nerve including the maxillary branch. Additionally, we detected significant changes in the expression levels of genes involved in neurogenesis ( Ache , Dcx , Mef2c , Neurog1 , Ntn1, Pou4f1 ) within the developing palatal shelves. These results, together with changes in the expression pattern of other key facespecific genes ( Fgf8, Foxd1 , Msx1 , Meis2 and Shh ) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in the regulation of craniofacial morphogenesis.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10601 - Cell biology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2024

Kód důvěrnosti údajů

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

Název periodika

Disease Models & Mechanisms

ISSN

1754-8403

e-ISSN

1754-8411

Svazek periodika

17

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

16

Strana od-do

dmm050261

Kód UT WoS článku

001267747400003

EID výsledku v databázi Scopus

2-s2.0-85197352924