OMIA 002410-9913 : CMAH enzyme deficiency in Bos taurus

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603209 (gene)

Mendelian trait/disorder: yes

Considered a defect: 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).


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.
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., Gali├▒anes, M., Roussel, J.C., Padler-Karavani, V., Cozzi, E., Soulillou, J.P., Galli, C. :
Generation of cattle knockout for galactose-╬▒1,3-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.

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  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021