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]
In the retina it is known that O-mannosylation of α-DG carried out by POMT1 is crucial for the establishment of proper synapses at the outer plexiform layer and the transmission of visual information from cones and rods to their postsynaptic neurons, i.e. bipolar and horizontal cells.
^Jurado LA, Coloma A, Cruces J (June 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". Genomics. 58 (2): 171–80. doi:10.1006/geno.1999.5819. PMID10366449.
^Rubio-Fernández M, Uribe ML, Vicente-Tejedor J, Germain F, Susín-Lara C, Quereda C, Montoliu L, De la Villa P, Martín-Nieto J, Cruces J (2018). "Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy". Scientific Reports8 (1): 8543. PMID29867208.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltràn-Valero de Barnabè D, van Bokoven H, Squarzoni S, Merlini L (May 2003). "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation". Biochimica et Biophysica Acta. 1638 (1): 57–62. doi:10.1016/s0925-4439(03)00040-1. PMID12757935.
Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I (March 2004). "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG". Neurology. 62 (6): 1009–11. doi:10.1212/01.wnl.0000115386.28769.65. PMID15037715.
Akasaka-Manya K, Manya H, Endo T (December 2004). "Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation". Biochemical and Biophysical Research Communications. 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, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA (February 2005). "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome". American Journal of Medical Genetics. Part A. 133A (1): 53–7. doi:10.1002/ajmg.a.30487. PMID15637732.
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H (April 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". Neuromuscular Disorders. 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, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (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 Research. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID16303743.
Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T (July 2006). "Physical and functional association of human protein O-mannosyltransferases 1 and 2". The Journal of Biological Chemistry. 281 (28): 19339–45. doi:10.1074/jbc.M601091200. PMID16698797.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N (January 2007). "Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families". Molecular Genetics and Metabolism. 90 (1): 93–6. doi:10.1016/j.ymgme.2006.09.005. PMID17079174.