SMN1

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

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: SMN1 survival of motor neuron 1, telomeric| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6606| accessdate = ]

ee also

* Survival of motor neuron

References

Further reading

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

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