The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

SEPN1  -  selenoprotein N, 1

Homo sapiens

Synonyms: CFTD, MDRS1, RSMD1, RSS, SELN, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of SEPN1


Psychiatry related information on SEPN1

  • Performance on psychometric tests (Mini-Mental State Examination, Alzheimer's Disease Assessment Scale (cognition subscale), Mattis Dementia Rating Scale (initiation/perseverence subscale; MDRS I/P)) of patients of different CDR gradings was compared with that of 42 healthy controls [6].
  • METHODS: Concurrent validity was evaluated using Wisconsin Card Sorting Tst (WCST) and Mattis Dementia Rating Scale-Initiation/Perseveration Subset (MDRS I/P) among 41 controls and 30 stroke patients with small subcortical infarct [7].

High impact information on SEPN1

  • Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome [8].
  • Analysis of three deltoid biopsy specimens from patients with typical RSMD revealed a wide myopathological variability, ranging from a dystrophic to a congenital myopathy pattern [1].
  • The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD [1].
  • A genomewide screening, followed by the analysis of 1p36 microsatellite markers in 27 informative families with MmD, demonstrated linkage to RSMD1 in eight families [1].
  • Subcellular fractionation experiments and endoglycosidase H sensitivity indicate that SEPN1 is a glycoprotein-localized within the endoplasmic reticulum [2].

Chemical compound and disease context of SEPN1


Biological context of SEPN1

  • Its high expression in cultured myoblasts is also down-regulated in differentiating myotubes, suggesting a role for SEPN1 in early development and in cell proliferation or regeneration [2].
  • A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy [10].
  • SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop) [11].
  • In the present review we discuss the most recent findings on the functional effect of mutations in SEPN1 and RYR1 and discuss how they may adversely affect muscle function and lead to the clinical phenotype [12].
  • Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected [13].

Anatomical context of SEPN1


Other interactions of SEPN1

  • We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively [14].
  • Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy [15].
  • In this family, linkage to the chromosome 1p rigid spine syndrome locus (RSMD1) is supported by maximum LOD scores for several markers of 1.81 at theta = 0, representing the maximum statistical power possible for this family [16].

Analytical, diagnostic and therapeutic context of SEPN1

  • Here we present comparative sequence analysis and experimental data supporting the presence of a second stop codon redefinition element located adjacent to a selenocysteine-encoding UGA codon in the eukaryal gene, SEPN1 [17].
  • The prevalence of nasopharyngeal carriage of the MDRSP outbreak strain was 7.8% among residents who had AIDS and 14.6% among residents with tracheostomies [18].
  • OBJECTIVE: We describe an effort to reduce transmission of a multidrug-resistant Streptococcus pneumoniae (MDRSP) in a long-term-care facility (LTCF) [18].
  • Long-term control of future MDRSP outbreaks should rely primarily on vaccination and strict infection control measures [19].
  • RESULTS: Before the intervention, nasopharyngeal carriage of the MDRSP outbreak strain was detected in residents with AIDS and residents with tracheostomies who were not dependent on mechanical ventilation [18].


  1. 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. Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bönnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.P., Romero, N.B., Martin, J.J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. Petit, N., Lescure, A., Rederstorff, M., Krol, A., Moghadaszadeh, B., Wewer, U.M., Guicheney, P. Hum. Mol. Genet. (2003) [Pubmed]
  3. Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. Venance, S.L., Koopman, W.J., Miskie, B.A., Hegele, R.A., Hahn, A.F. Neurology (2005) [Pubmed]
  4. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Jungbluth, H., Zhou, H., Hartley, L., Halliger-Keller, B., Messina, S., Longman, C., Brockington, M., Robb, S.A., Straub, V., Voit, T., Swash, M., Ferreiro, A., Bydder, G., Sewry, C.A., Müller, C., Muntoni, F. Neurology (2005) [Pubmed]
  5. Gatifloxacin: a review of its use in the treatment of bacterial infections in the US. Keam, S.J., Croom, K.F., Keating, G.M. Drugs (2005) [Pubmed]
  6. Cognitive impairment and functional outcome after stroke associated with small vessel disease. Mok, V.C., Wong, A., Lam, W.W., Fan, Y.H., Tang, W.K., Kwok, T., Hui, A.C., Wong, K.S. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  7. The validity and reliability of chinese frontal assessment battery in evaluating executive dysfunction among Chinese patients with small subcortical infarct. Mok, V.C., Wong, A., Yim, P., Fu, M., Lam, W.W., Hui, A.C., Yau, C., Wong, K.S. Alzheimer disease and associated disorders. (2004) [Pubmed]
  8. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S.Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. Nat. Genet. (2001) [Pubmed]
  9. Efficacy of moxifloxacin for treatment of penicillin-, macrolide- and multidrug-resistant Streptococcus pneumoniae in community-acquired pneumonia. Fogarty, C., Torres, A., Choudhri, S., Haverstock, D., Herrington, J., Ambler, J. International journal of clinical practice. (2005) [Pubmed]
  10. A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. Allamand, V., Richard, P., Lescure, A., Ledeuil, C., Desjardin, D., Petit, N., Gartioux, C., Ferreiro, A., Krol, A., Pellegrini, N., Urtizberea, J.A., Guicheney, P. EMBO Rep. (2006) [Pubmed]
  11. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). Tajsharghi, H., Darin, N., Tulinius, M., Oldfors, A. Neuromuscul. Disord. (2005) [Pubmed]
  12. Functional effects of mutations identified in patients with multiminicore disease. Zorzato, F., Jungbluth, H., Zhou, H., Muntoni, F., Treves, S. IUBMB Life (2007) [Pubmed]
  13. Multi-minicore disease revisited. Nucci, A., Queiroz, L.S., Zambelli, H.J., Martins Filho, J. Arquivos de neuro-psiquiatria. (2004) [Pubmed]
  14. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. 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. Neuromuscul. Disord. (2005) [Pubmed]
  15. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Okamoto, Y., Takashima, H., Higuchi, I., Matsuyama, W., Suehara, M., Nishihira, Y., Hashiguchi, A., Hirano, R., Ng, A.R., Nakagawa, M., Izumo, S., Osame, M., Arimura, K. Neurogenetics (2006) [Pubmed]
  16. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Flanigan, K.M., Kerr, L., Bromberg, M.B., Leonard, C., Tsuruda, J., Zhang, P., Gonzalez-Gomez, I., Cohn, R., Campbell, K.P., Leppert, M. Ann. Neurol. (2000) [Pubmed]
  17. Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. Howard, M.T., Aggarwal, G., Anderson, C.B., Khatri, S., Flanigan, K.M., Atkins, J.F. EMBO J. (2005) [Pubmed]
  18. Persistence of fluoroquinolone-resistant, multidrug-resistant Streptococcus pneumoniae in a long-term-care facility: efforts to reduce intrafacility transmission. Fry, A.M., Udeagu, C.C., Soriano-Gabarro, M., Fridkin, S., Musinski, D., LaClaire, L., Elliott, J., Cook, D.J., Kornblum, J., Layton, M., Whitney, C.G. Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America. (2005) [Pubmed]
  19. Failure to control an outbreak of multidrug-resistant Streptococcus pneumoniae in a long-term-care facility: emergence and ongoing transmission of a fluoroquinolone-resistant strain. Carter, R.J., Sorenson, G., Heffernan, R., Kiehlbauch, J.A., Kornblum, J.S., Leggiadro, R.J., Nixon, L.J., Wertheim, W.A., Whitney, C.G., Layton, M. Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America. (2005) [Pubmed]
WikiGenes - Universities