000K utf8 1100 $c2023 1500 eng 2050 urn:nbn:de:gbv:8:3-2023-00304-3 2051 10.3390/pathogens12040591 3000 Ogun, Oluwamayowa Joshua 3010 Becker, Doreen 3010 Soremekun, Opeyemi S 3010 Thaller, Georg 4000 An In Silico Functional Analysis of Non-Synonymous Single-Nucleotide Polymorphisms of Bovine CMAH Gene and Potential Implication in Pathogenesis [Ogun, Oluwamayowa Joshua] 4209 The sugar molecule N-glycolylneuraminic acid (Neu5Gc) is one of the most common sialic acids discovered in mammals. Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) catalyses the conversion of N-acetylneuraminic acid (Neu5Ac) to Neu5Gc, and it is encoded by the CMAH gene. On the one hand, food metabolic incorporation of Neu5Gc has been linked to specific human diseases. On the other hand, Neu5Gc has been shown to be highly preferred by some pathogens linked to certain bovine diseases. We used various computational techniques to perform an in silico functional analysis of five non-synonymous single-nucleotide polymorphisms (nsSNPs) of the bovine CMAH (bCMAH) gene identified from the 1000 Bull Genomes sequence data. The c.1271C>T (P424L) nsSNP was predicted to be pathogenic based on the consensus result from different computational tools. The nsSNP was also predicted to be critical based on sequence conservation, stability, and post-translational modification site analysis. According to the molecular dynamic simulation and stability analysis, all variations promoted stability of the bCMAH protein, but mutation A210S significantly promoted CMAH stability. In conclusion, c.1271C>T (P424L) is expected to be the most harmful nsSNP among the five detected nsSNPs based on the overall studies. This research could pave the way for more research associating pathogenic nsSNPs in the bCMAH gene with diseases. 4950 https://doi.org/10.3390/pathogens12040591$xR$3Volltext$534 4950 https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2023-00304-3$xR$3Volltext$534 4961 https://macau.uni-kiel.de/receive/macau_mods_00003623 5051 333.7 5051 610 5550 Bacteria 5550 Cmah 5550 Neu5ac 5550 Neu5gc 5550 Pathogenesis 5550 Sialic acid 5550 SNPs 5550 Virus