Mandibulofacial Dysostosis Attributed to a Recessive Mutation of
Bos taurus
animal models
congenital defect
de novo mutation
first pharyngeal arch
retinoic acid signaling
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
22 10 2020
22 10 2020
Historique:
received:
28
09
2020
revised:
15
10
2020
accepted:
17
10
2020
entrez:
27
10
2020
pubmed:
28
10
2020
medline:
23
7
2021
Statut:
epublish
Résumé
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and bilateral skin tags present 2-10 cm caudal to the commissure of the lips. Pedigree analysis revealed a single common ancestor shared by the sire and dam of each affected calf. Whole-genome sequencing (WGS) of 20 animals led to the discovery of a variant (Chr26 g. 14404993T>C) in Exon 3 of
Identifiants
pubmed: 33105751
pii: genes11111246
doi: 10.3390/genes11111246
pmc: PMC7690606
pii:
doi:
Substances chimiques
Tretinoin
5688UTC01R
Cytochrome P450 Family 26
EC 1.14.14.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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