O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM]
^Jurado LA, Coloma A, Cruces J (Aug 1999). "Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1". Genomics58 (2): 171–80. doi:10.1006/geno.1999.5819. PMID10366449.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM et al. (2003). "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation". Biochim. Biophys. Acta1638 (1): 57–62. doi:10.1016/s0925-4439(03)00040-1. PMID12757935.
Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N et al. (2004). "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG". Neurology62 (6): 1009–11. doi:10.1212/01.wnl.0000115386.28769.65. PMID15037715.
Akasaka-Manya K, Manya H, Endo T (2005). "Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation". Biochem. Biophys. Res. Commun.325 (1): 75–9. doi:10.1016/j.bbrc.2004.10.001. PMID15522202.
Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L et al. (2005). "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome". Am. J. Med. Genet. A133 (1): 53–7. doi:10.1002/ajmg.a.30487. PMID15637732.
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B et al. (2005). "An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene". Neuromuscul. Disord.15 (4): 271–5. doi:10.1016/j.nmd.2005.01.013. PMID15792865.
Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res.12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID16303743.
Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T (2006). "Physical and functional association of human protein O-mannosyltransferases 1 and 2". J. Biol. Chem.281 (28): 19339–45. doi:10.1074/jbc.M601091200. PMID16698797.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C et al. (2007). "Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families". Mol. Genet. Metab.90 (1): 93–6. doi:10.1016/j.ymgme.2006.09.005. PMID17079174.