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

J 2024

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

HAMPL, Marek; Nela JANDOVÁ; Denisa LUSKOVÁ; Monika NOVÁKOVÁ; Tereza SZOTKOWSKÁ et al.

Základní údaje

Originální název

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

Autoři

HAMPL, Marek; Nela JANDOVÁ; Denisa LUSKOVÁ; Monika NOVÁKOVÁ; Tereza SZOTKOWSKÁ; Štěpán ČADA; Jan PROCHÁZKA; Jiří KOHOUTEK a Marcela BUCHTOVÁ

Vydání

Disease Models & Mechanisms, Company of Biologists Ltd, 2024, 1754-8403

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10605 Developmental biology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.300

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/24:00136267

Organizační jednotka

Přírodovědecká fakulta

DOI

https://doi.org/10.1242/dmm.050261

UT WoS

001267747400003

EID Scopus

2-s2.0-85197352924

Klíčová slova anglicky

Craniofacial development; Orofacial clefts; Axons; Neurite outgrowth; CDK13; Trigeminal ganglion

Štítky

14314010, CF CELLIM, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 27. 3. 2025 08:23, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Congenital heart defects, facial dysmorphism and intellectual development disorder (CHDFIDD) is associated with mutations in CDK13 gene, which encodes a transcription regulating Cyclin-dependent kinase 13 (CDK13). Here, we focused on development of craniofacial structures and analyzed early embryonic stages of CHDFIDD mouse models with hypomorphic mutation in Cdk13 gene, which exhibits cleft lip/palate and knockout of Cdk13 with stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically strongly expressed 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 maxillary branch and additionally, we detected significant gene expression changes of molecules involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves. These results, together with changes of gene expression of other key face-specific molecules (Fgf8, Foxd1, Msx1, Meis2 and Shh) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in regulation of craniofacial morphogenesis.

Návaznosti

GA19-01205S, projekt VaV

Název: Úloha LGR5-pozitivních kmenových buněk v odontogenezi

Investor: Grantová agentura ČR, Úloha LGR5-pozitivních kmenových buněk v odontogenezi

LX22NPO5102, projekt VaV

Název: Národní ústav pro výzkum rakoviny (Akronym: NÚVR)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Národní ústav pro výzkum rakoviny, 5.1 EXCELES

90129, velká výzkumná infrastruktura

Název: Czech-BioImaging II

Přiložené soubory

2411798.pdf

2411798_accepted_manuscript.pdf

Citovat

HAMPL, Marek; Nela JANDOVÁ; Denisa LUSKOVÁ; Monika NOVÁKOVÁ; Tereza SZOTKOWSKÁ; Štěpán ČADA; Jan PROCHÁZKA; Jiří KOHOUTEK a Marcela BUCHTOVÁ. Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis. Disease Models & Mechanisms. Company of Biologists Ltd, 2024, roč. 17, č. 6, s. 1-16. ISSN 1754-8403. Dostupné z: https://doi.org/10.1242/dmm.050261.

@article{2411798,
   author = {Hampl, Marek and Jandová, Nela and Lusková, Denisa and Nováková, Monika and Szotkowská, Tereza and Čada, Štěpán and Procházka, Jan and Kohoutek, Jiří and Buchtová, Marcela},
   article_number = {6},
   doi = {https://doi.org/10.1242/dmm.050261},
   keywords = {Craniofacial development; Orofacial clefts; Axons; Neurite outgrowth; CDK13; Trigeminal ganglion},
   language = {eng},
   issn = {1754-8403},
   journal = {Disease Models & Mechanisms},
   title = {Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis},
   url = {https://doi.org/10.1242/dmm.050261},
   volume = {17},
   year = {2024}
}

TY  - JOUR
ID  - 2411798
AU  - Hampl, Marek - Jandová, Nela - Lusková, Denisa - Nováková, Monika - Szotkowská, Tereza - Čada, Štěpán - Procházka, Jan - Kohoutek, Jiří - Buchtová, Marcela
PY  - 2024
TI  - Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis
JF  - Disease Models & Mechanisms
VL  - 17
IS  - 6
SP  - 1-16
EP  - 1-16
PB  - Company of Biologists Ltd
SN  - 17548403
KW  - Craniofacial development
KW  - Orofacial clefts
KW  - Axons
KW  - Neurite outgrowth
KW  - CDK13
KW  - Trigeminal ganglion
UR  - https://doi.org/10.1242/dmm.050261
N2  - Congenital heart defects, facial dysmorphism and intellectual development disorder (CHDFIDD) is associated with mutations in CDK13 gene, which encodes a transcription regulating Cyclin-dependent kinase 13 (CDK13). Here, we focused on development of craniofacial structures and analyzed early embryonic stages of CHDFIDD mouse models with hypomorphic mutation in Cdk13 gene, which exhibits cleft lip/palate and knockout of Cdk13 with stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically strongly expressed 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 maxillary branch and additionally, we detected significant gene expression changes of molecules involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves. These results, together with changes of gene expression of other key face-specific molecules (Fgf8, Foxd1, Msx1, Meis2 and Shh) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in regulation of craniofacial morphogenesis.
ER  -

HAMPL, Marek; Nela JANDOVÁ; Denisa LUSKOVÁ; Monika NOVÁKOVÁ; Tereza SZOTKOWSKÁ; Štěpán ČADA; Jan PROCHÁZKA; Jiří KOHOUTEK a Marcela BUCHTOVÁ. Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis. \textit{Disease Models \&{} Mechanisms}. Company of Biologists Ltd, 2024, roč.~17, č.~6, s.~1-16. ISSN~1754-8403. Dostupné z: https://doi.org/10.1242/dmm.050261.

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