OMIA:002410-9913 : CMAH enzyme deficiency in Bos taurus (taurine cattle) |
In other species: pig
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603209 (gene)
Mendelian trait/disorder: yes
Disease-related: no
Key variant known: no
Cross-species summary: N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The synthesis of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) activity. The enzyme CMAH is inactivated in humans by a deletion.
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
Genetic engineering:
Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CMAH | cytidine monophospho-N-acetylneuraminic acid hydroxylase | Bos taurus | 23 | NC_037350.1 (32672546..32755486) | CMAH | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002410-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | Ogun, O.J., Soremekun, O.S., Thaller, G., Becker, D. : |
| An in silico functional analysis of non-synonymous single-nucleotide polymorphisms of bovine CMAH gene and potential implication in pathogenesis. Pathogens 12:591, 2023. Pubmed reference: 37111477. DOI: 10.3390/pathogens12040591. | |
| 2019 | Perota, A., Galli, C. : |
| N-glycolylneuraminic acid (Neu5Gc) null large animals by targeting the CMP-Neu5Gc hydroxylase (CMAH). Front Immunol 10:2396, 2019. Pubmed reference: 31681287. DOI: 10.3389/fimmu.2019.02396. | |
| Perota, A., Lagutina, I., Duchi, R., Zanfrini, E., Lazzari, G., Judor, J.P., Conchon, S., Bach, J.M., Bottio, T., Gerosa, G., Costa, C., Galiñanes, M., Roussel, J.C., Padler-Karavani, V., Cozzi, E., Soulillou, J.P., Galli, C. : | |
| Generation of cattle knockout for galactose-α1,3-galactose and N-glycolylneuraminic acid antigens. Xenotransplantation 26:e12524, 2019. Pubmed reference: 31115108. DOI: 10.1111/xen.12524. | |
| 2007 | Lagutina, I., Lazzari, G., Duchi, R., Turini, P., Tessaro, I., Brunetti, D., Colleoni, S., Crotti, G., Galli, C. : |
| Comparative aspects of somatic cell nuclear transfer with conventional and zona-free method in cattle, horse, pig and sheep. Theriogenology 67:90-8, 2007. Pubmed reference: 17081599. DOI: 10.1016/j.theriogenology.2006.09.011. |
Edit History
- Created by Imke Tammen2 on 28 Aug 2021
- Changed by Imke Tammen2 on 28 Aug 2021
- Changed by Imke Tammen2 on 18 Dec 2023