This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[2]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty five tests were carried out on homozygous mutant mice and one significant abnormality was observed: than animals displayed vertebral fusion.[6]
References
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↑ 6.06.16.2Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
Aho H, Schwemmer M, Tessman D, Murphy D, Mattei G, Engel W, Adham IM (Mar 1996). "Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP)". Genomics. 32 (2): 184–90. doi:10.1006/geno.1996.0104. PMID8833144.
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P (Sep 2001). "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome". Nature Genetics. 29 (1): 17–8. doi:10.1038/ng713. PMID11528383.
Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P (May 2003). "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern". Human Molecular Genetics. 12 (9): 1045–53. doi:10.1093/hmg/ddg115. PMID12700173.
Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bönnemann CG (May 2004). "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene". Annals of Neurology. 55 (5): 676–86. doi:10.1002/ana.20077. PMID15122708.
Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF (Jan 2005). "Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale". Neurology. 64 (2): 395–6. doi:10.1212/01.WNL.0000149755.85666.DB. PMID15668457.
Tajsharghi H, Darin N, Tulinius M, Oldfors A (Apr 2005). "Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)". Neuromuscular Disorders. 15 (4): 299–302. doi:10.1016/j.nmd.2004.11.004. PMID15792869.
D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H (Aug 2005). "Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes". Neuromuscular Disorders. 15 (8): 521–4. doi:10.1016/j.nmd.2005.03.006. PMID15961312.
Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN (Mar 2006). "SEPN1: associated with congenital fiber-type disproportion and insulin resistance". Annals of Neurology. 59 (3): 546–52. doi:10.1002/ana.20761. PMID16365872.
Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K (Jul 2006). "Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene". Neurogenetics. 7 (3): 175–83. doi:10.1007/s10048-006-0046-0. PMID16779558.