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Cytidine monophospho-N-acetylneuraminic acid hydroxylase

CMP-Neu5Ac hydroxylase, CMAH, CMP-N-acetylneuraminic acid hydroxylase, CMP-NeuAc hydroxylase, cytidine monophospho-N-acetylneuraminic acid hydroxylase
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, fibrillin-1, OUT
Papers on CMP-Neu5Ac hydroxylase
Inclusion of homologous DNA in nuclease-mediated gene targeting facilitates a higher incidence of bi-allelically modified cells.
Prather et al., Columbia, United States. In Xenotransplantation, Sep 2015
We have previously produced cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH) knockout (KO) pigs in a Minnesota miniature pig genetic background.
Oxidative stress and ROS metabolism via down-regulation of sirtuin 3 expression in Cmah-null mice affect hearing loss.
Kim et al., Seoul, South Korea. In Aging (albany Ny), Aug 2015
CMP-Neu5Ac hydroxylase (Cmah) disruption caused several abnormalities and diseases including hearing loss in old age.
Novel Antibodies Reactive with Sialyl Lewis X in Both Humans and Mice Define Its Critical Role in Leukocyte Trafficking and Contact Hypersensitivity Responses.
Kawashima et al., Shizuoka, Japan. In J Biol Chem, Jul 2015
Here, we developed novel anti-sLe(x) mAbs, termed F1 and F2, which react well with both human and mouse sLe(x), by immunizing fucosyltransferase (FucT)-IV and FucT-VII doubly deficient mice with 6-sulfo-sLe(x)-expressing cells transiently transfected with an expression vector encoding CMP-N-acetylneuraminic acid hydroxylase.
Evaluation of human and non-human primate antibody binding to pig cells lacking GGTA1/CMAH/β4GalNT2 genes.
Tector et al., Indianapolis, United States. In Xenotransplantation, May 2015
BACKGROUND: Simultaneous inactivation of pig GGTA1 and CMAH genes eliminates carbohydrate xenoantigens recognized by human antibodies.
Host adaptation of a bacterial toxin from the human pathogen Salmonella Typhi.
Varki et al., San Diego, United States. In Cell, 2015
Human glycans are unusual because of the lack of CMAH, which in other mammals converts N-acetylneuraminic acid (Neu5Ac) to N-glycolylneuraminic acid (Neu5Gc).
CMP-Neu5Ac Hydroxylase Null Mice as a Model for Studying Metabolic Disorders Caused by the Evolutionary Loss of Neu5Gc in Humans.
Kim et al., Seoul, South Korea. In Biomed Res Int, 2014
CMP-Neu5Ac hydroxylase- (Cmah-) deficient mice show the infiltration of Kupffer cells within liver sinusoids, whereas body and liver weight develop normally.
Production and Purification of Secretory Simian Cytidine Monophosphate-N-acetylneuraminic Acid Hydroxylase Using Baculovirus-Protein Expression System.
Suzuki et al., Shizuoka, Japan. In Biol Pharm Bull, 2014
Cytidine monophosphate (CMP) N-acetylneuraminic acid (Neu5Ac) hydroxylase (CMAH) is an essential enzyme for N-glycolylneuraminic acid (Neu5Gc) synthesis.
Generation of α1,3-galactosyltransferase and cytidine monophospho-N-acetylneuraminic acid hydroxylase gene double-knockout pigs.
Nagashima et al., Ōsaka, Japan. In J Reprod Dev, 2014
These cells were subjected to an additional KO for the cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) gene.
Ferrets exclusively synthesize Neu5Ac and express naturally humanized influenza A virus receptors.
Jennings et al., Gold Coast, Australia. In Nat Commun, 2013
Neu5Gc is synthesized from Neu5Ac by the enzyme cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH).
MicroRNA dysregulation in liver and pancreas of CMP-Neu5Ac hydroxylase null mice disrupts insulin/PI3K-AKT signaling.
Kim et al., Seoul, South Korea. In Biomed Res Int, 2013
CMP-Neu5Ac hydroxylase (Cmah)-null mice fed with a high-fat diet develop fasting hyperglycemia, glucose intolerance, and pancreatic β-cell dysfunction and ultimately develop characteristics of type 2 diabetes.
Involvement of a non-human sialic Acid in human cancer.
Varki et al., San Diego, United States. In Front Oncol, 2013
Neu5Gc is notable for its deficiency in humans due to a species-specific and species-universal inactivating deletion in the CMAH gene encoding the hydroxylase that converts CMP-Neu5Ac to CMP-Neu5Gc.
Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus).
Tautz et al., Germany. In Front Genet, 2013
We identified two loci with large differences in microsatellite heterozygosity (Sfi1 and Glo1/Dnahc8 regions) and one locus with low variation across the populations (Cmah), thus suggesting that these genomic regions might have recently undergone selective sweeps.
Pancreatic beta-cell failure in obese mice with human-like CMP-Neu5Ac hydroxylase deficiency.
Kim et al., San Diego, United States. In Faseb J, 2011
This study showed that mice bearing a human-like deletion of the Cmah gene exhibit fasting hyperglycemia and glucose intolerance following a high-fat diet.
A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.
Martin et al., Columbus, United States. In Sci Transl Med, 2010
A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.
Human CMP-N-acetylneuraminic acid hydroxylase is a novel stem cell marker linked to stem cell-specific mechanisms.
Laine et al., Helsinki, Finland. In Stem Cells, 2010
Data show that CMAH gene expression is significantly upregulated in the adult stem cell populations studied, both of hematopoietic and mesenchymal origin, and identify CMAH as a novel stem cell marker.
Multiple changes in sialic acid biology during human evolution.
Varki, San Diego, United States. In Glycoconj J, 2009
An inactivating mutation in the CMAH gene eliminated human expression of N-glycolylneuraminic acid (Neu5Gc) a major sialic acid in "great apes".
N-glycolylneuraminic acid deficiency in mice: implications for human biology and evolution.
Varki et al., San Diego, United States. In Mol Cell Biol, 2007
Cmah was inactivated and the in vivo consequences were studied.
N-Glycolylneuraminic acid in human tumours.
Shaw et al., Kiel, Germany. In Biochimie, 2001
This is due to a deletion in the human gene coding for CMP-Neu5Ac hydroxylase, the enzyme usually responsible for Neu5Gc biosynthesis.
Loss of N-glycolylneuraminic acid in humans: Mechanisms, consequences, and implications for hominid evolution.
Varki, San Diego, United States. In Am J Phys Anthropol, 2000
The human deficiency of Neu5Gc is explained by an inactivating mutation in the gene encoding CMP-N-acetylneuraminic acid hydroxylase, the rate-limiting enzyme in generating Neu5Gc in cells of other mammals.
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