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Full-Text Articles in Genetics and Genomics
Mandibulofacial Dysostosis Attributed To A Recessive Mutation Of Cyp26c1 In Hereford Cattle, Renae L. Sieck, Anna M. Fuller, Patrick S. Bedwell, Jack A. Ward, Stacy K. Sanders, Shi-Hua Xiang, Sichong Peng, Jessica Lynn Petersen, David J. Steffen
Mandibulofacial Dysostosis Attributed To A Recessive Mutation Of Cyp26c1 In Hereford Cattle, Renae L. Sieck, Anna M. Fuller, Patrick S. Bedwell, Jack A. Ward, Stacy K. Sanders, Shi-Hua Xiang, Sichong Peng, Jessica Lynn Petersen, David J. Steffen
Department of Animal Science: Faculty Publications
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 CYP26C1 associated with MD. This missense mutation (p.L188P), is located in an α helix of …