SMN1

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Survival of motor neuron 1, telomeric
PDB rendering based on 1g5v.
Available structures: 1g5v, 1mhn
Identifiers
Symbol(s) SMN1; SMN; BCD541; SMA1; SMA2; SMA3; SMA4; SMNT; T-BCD541; C-BCD541; SMNC
External IDs OMIM: 600354 MGI: 109257 HomoloGene: 292
Orthologs
Human Mouse
Entrez 6606 20595
Ensembl n/a ENSMUSG00000021645
Uniprot n/a Q3UMN7
Refseq XM_001126655 (mRNA)
XP_001126655 (protein)		 NM_011420 (mRNA)
NP_035550 (protein)
Location n/a Chr 13: 101.23 - 101.24 Mb
Pubmed search [1] [2]

Survival of motor neuron 1, telomeric, also known as SMN1, is a human gene.

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants are produced by this gene.[1]

[edit] See also

[edit] References

  1. ^ Entrez Gene: SMN1 survival of motor neuron 1, telomeric.

[edit] Further reading

  • Hausmanowa-Petrusewicz I, Jedrzejowska M (2002). "Spinal muscular atrophy of childhood at the edge of the centuries.". Funct. Neurol. 16 (4 Suppl): 247–53. PMID 11996521. 
  • Paushkin S, Gubitz AK, Massenet S, Dreyfuss G (2002). "The SMN complex, an assemblyosome of ribonucleoproteins.". Curr. Opin. Cell Biol. 14 (3): 305–12. PMID 12067652. 
  • van der Steege G, Draaijers TG, Grootscholten PM, et al. (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region.". Eur. J. Hum. Genet. 3 (2): 87–95. PMID 7552146. 
  • Bussaglia E, Clermont O, Tizzano E, et al. (1995). "A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.". Nat. Genet. 11 (3): 335–7. doi:10.1038/ng1195-335. PMID 7581461. 
  • Gennarelli M, Lucarelli M, Capon F, et al. (1995). "Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.". Biochem. Biophys. Res. Commun. 213 (1): 342–8. doi:10.1006/bbrc.1995.2135. PMID 7639755. 
  • Lefebvre S, Bürglen L, Reboullet S, et al. (1995). "Identification and characterization of a spinal muscular atrophy-determining gene.". Cell 80 (1): 155–65. PMID 7813012. 
  • Liu Q, Dreyfuss G (1996). "A novel nuclear structure containing the survival of motor neurons protein.". EMBO J. 15 (14): 3555–65. PMID 8670859. 
  • van der Steege G, Grootscholten PM, Cobben JM, et al. (1996). "Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.". Am. J. Hum. Genet. 59 (4): 834–8. PMID 8808598. 
  • Bürglen L, Lefebvre S, Clermont O, et al. (1997). "Structure and organization of the human survival motor neurone (SMN) gene.". Genomics 32 (3): 479–82. doi:10.1006/geno.1996.0147. PMID 8838816. 
  • Parsons DW, McAndrew PE, Monani UR, et al. (1997). "An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.". Hum. Mol. Genet. 5 (11): 1727–32. PMID 8922999. 
  • Talbot K, Ponting CP, Theodosiou AM, et al. (1997). "Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?". Hum. Mol. Genet. 6 (3): 497–500. PMID 9147655. 
  • Hahnen E, Schönling J, Rudnik-Schöneborn S, et al. (1997). "Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).". Hum. Mol. Genet. 6 (5): 821–5. PMID 9158159. 
  • Coovert DD, Le TT, McAndrew PE, et al. (1997). "The survival motor neuron protein in spinal muscular atrophy.". Hum. Mol. Genet. 6 (8): 1205–14. PMID 9259265. 
  • Battaglia G, Princivalle A, Forti F, et al. (1998). "Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.". Hum. Mol. Genet. 6 (11): 1961–71. PMID 9302277. 
  • Liu Q, Fischer U, Wang F, Dreyfuss G (1997). "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.". Cell 90 (6): 1013–21. PMID 9323129. 
  • Iwahashi H, Eguchi Y, Yasuhara N, et al. (1997). "Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy.". Nature 390 (6658): 413–7. doi:10.1038/37144. PMID 9389483. 
  • Chen Q, Baird SD, Mahadevan M, et al. (1998). "Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.". Genomics 48 (1): 121–7. doi:10.1006/geno.1997.5141. PMID 9503025. 
  • Francis JW, Sandrock AW, Bhide PG, et al. (1998). "Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues.". Proc. Natl. Acad. Sci. U.S.A. 95 (11): 6492–7. PMID 9600994. 
  • Gambardella A, Mazzei R, Toscano A, et al. (1998). "Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.". Ann. Neurol. 44 (5): 836–9. doi:10.1002/ana.410440522. PMID 9818944. 
  • Parsons DW, McAndrew PE, Iannaccone ST, et al. (1999). "Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.". Am. J. Hum. Genet. 63 (6): 1712–23. PMID 9837824. 
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