SELENON explained

Selenoprotein N is a protein that in humans is encoded by the SEPN1 gene.^{[1] [2]}

Function

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. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.^[2]

Further reading

• Aho H, Schwemmer M, Tessman D, Murphy D, Mattei G, Engel W, Adham IM . Isolation, expression, and chromosomal localization of the human mitochondrial capsule selenoprotein gene (MCSP) . Genomics . 32 . 2 . 184–90 . Mar 1996 . 8833144 . 10.1006/geno.1996.0104 .
• Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P . Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36 . American Journal of Human Genetics . 62 . 6 . 1439–45 . Jun 1998 . 9585610 . 1377161 . 10.1086/301882 .
• 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 . Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome . Nature Genetics . 29 . 1 . 17–8 . Sep 2001 . 11528383 . 10.1038/ng713 . 32502649 .
• Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P . Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies . American Journal of Human Genetics . 71 . 4 . 739–49 . Oct 2002 . 12192640 . 378532 . 10.1086/342719 .
• Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P . Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern . Human Molecular Genetics . 12 . 9 . 1045–53 . May 2003 . 12700173 . 10.1093/hmg/ddg115 . free .
• 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 . Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene . Annals of Neurology . 55 . 5 . 676–86 . May 2004 . 15122708 . 10.1002/ana.20077 . 23532071 .
• Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF . Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale . Neurology . 64 . 2 . 395–6 . Jan 2005 . 15668457 . 10.1212/01.WNL.0000149755.85666.DB . 45950215 .
• Tajsharghi H, Darin N, Tulinius M, Oldfors A . Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1) . Neuromuscular Disorders . 15 . 4 . 299–302 . Apr 2005 . 15792869 . 10.1016/j.nmd.2004.11.004 . 29790389 .
• 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 . Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes . Neuromuscular Disorders . 15 . 8 . 521–4 . Aug 2005 . 15961312 . 10.1016/j.nmd.2005.03.006 . 30933367 .
• Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN . SEPN1: associated with congenital fiber-type disproportion and insulin resistance . Annals of Neurology . 59 . 3 . 546–52 . Mar 2006 . 16365872 . 10.1002/ana.20761 . 39824649 .
• Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P . A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy . EMBO Reports . 7 . 4 . 450–4 . Apr 2006 . 16498447 . 1456920 . 10.1038/sj.embor.7400648 .
• 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 . Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene . Neurogenetics . 7 . 3 . 175–83 . Jul 2006 . 16779558 . 10.1007/s10048-006-0046-0 . 25169543 .

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• GeneReviews/NCBI/NIH/UW entry on Multiminicore Disease

Notes and References

1. Lescure A, Gautheret D, Carbon P, Krol A . Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif . The Journal of Biological Chemistry . 274 . 53 . 38147–54 . Dec 1999 . 10608886 . 10.1074/jbc.274.53.38147 . free .
2. Web site: Entrez Gene: SEPN1 selenoprotein N, 1.