Gene Review:
SMN2 - survival of motor neuron 2, centromeric
Homo sapiens
Synonyms:
BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
Ogino,
Wilson,
Gold,
Tsuyoshi Kashima,
Nishta Rao,
Charles J. David,
James L. Manley,
Jarecki,
Whitney,
Burghes,
Stack,
Bernardino,
Coovert,
Chen,
Pollok,
Wirth,
Echaniz-Laguna,
Tranchant,
Warter,
Melki,
Guiraud-Chaumeil,
Reeber,
Yamashita,
Nishio,
Yamamoto,
Harada,
Matsuo,
Brunhilde Wirth,
Swoboda,
McNaught,
Wride,
Scott,
Prior,
Bromberg,
Reyna,
- Identification and characterization of a spinal muscular atrophy-determining gene. Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M. Cell. (1995)
- Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T.F., Wirth, B. Am. J. Hum. Genet. (2002)
- Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Wirth, B., Brichta, L., Schrank, B., Lochmüller, H., Blick, S., Baasner, A., Heller, R. Hum. Genet. (2006)
- A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Kashima, T., Manley, J.L. Nat. Genet. (2003)
- Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Brichta, L., Hofmann, Y., Hahnen, E., Siebzehnrubl, F.A., Raschke, H., Blumcke, I., Eyupoglu, I.Y., Wirth, B. Hum. Mol. Genet. (2003)
- Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Jarecki, J., Chen, X., Bernardino, A., Coovert, D.D., Whitney, M., Burghes, A., Stack, J., Pollok, B.A. Hum. Mol. Genet. (2005)
- Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. Echaniz-Laguna, A., Guiraud-Chaumeil, C., Tranchant, C., Reeber, A., Melki, J., Warter, J.M. J. Neurol. (2002)
- Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene. Yamashita, M., Nishio, H., Harada, Y., Matsuo, M., Yamamoto, T. Eur. Neurol. (2004)
- Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Cartegni, L., Krainer, A.R. Nat. Genet. (2002)
- Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Cartegni, L., Hastings, M.L., Calarco, J.A., de Stanchina, E., Krainer, A.R. Am. J. Hum. Genet. (2006)
- Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Skordis, L.A., Dunckley, M.G., Yue, B., Eperon, I.C., Muntoni, F. Proc. Natl. Acad. Sci. U.S.A. (2003)
- Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Grzeschik, S.M., Ganta, M., Prior, T.W., Heavlin, W.D., Wang, C.H. Ann. Neurol. (2005)
- The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Riessland, M., Brichta, L., Hahnen, E., Wirth, B. Hum. Genet. (2006)
- LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Garbes, L., Riessland, M., Hölker, I., Heller, R., Hauke, J., Tränkle, C., Coras, R., Blümcke, I., Hahnen, E., Wirth, B. Hum. Mol. Genet. (2009)
- SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Riessland, M., Ackermann, B., Förster, A., Jakubik, M., Hauke, J., Garbes, L., Fritzsche, I., Mende, Y., Blumcke, I., Hahnen, E., Wirth, B. Hum. Mol. Genet. (2010)
- Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Swoboda, K.J., Prior, T.W., Scott, C.B., McNaught, T.P., Wride, M.C., Reyna, S.P., Bromberg, M.B. Ann. Neurol. (2005)
- Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Mailman, M.D., Heinz, J.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Wirth, B., Burghes, A.H., Prior, T.W. Genet. Med. (2002)
- Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. Malcov, M., Schwartz, T., Mei-Raz, N., Yosef, D.B., Amit, A., Lessing, J.B., Shomrat, R., Orr-Urtreger, A., Yaron, Y. Fetal. Diagn. Ther. (2004)
- Treatment of spinal muscular atrophy by sodium butyrate. Chang, J.G., Hsieh-Li, H.M., Jong, Y.J., Wang, N.M., Tsai, C.H., Li, H. Proc. Natl. Acad. Sci. U.S.A. (2001)
- Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene. Majumder, S., Varadharaj, S., Ghoshal, K., Monani, U., Burghes, A.H., Jacob, S.T. J. Biol. Chem. (2004)
- Stat5 constitutive activation rescues defects in spinal muscular atrophy. Ting, C.H., Lin, C.W., Wen, S.L., Hsieh-Li, H.M., Li, H. Hum. Mol. Genet. (2007)
- Spinal muscular atrophy: state-of-the-art and therapeutic perspectives. Wirth, B. Amyotroph. Lateral Scler. Other Motor Neuron Disord. (2002)
- Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy. Helmken, C., Wirth, B. Hum. Genet. (2000)
- A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Cuscó, I., López, E., Soler-Botija, C., Jesús Barceló, M., Baiget, M., Tizzano, E.F. Hum. Mutat. (2003)
- hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Kashima, T., Rao, N., David, C.J., Manley, J.L. Hum. Mol. Genet. (2007)
- A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Monani, U.R., Lorson, C.L., Parsons, D.W., Prior, T.W., Androphy, E.J., Burghes, A.H., McPherson, J.D. Hum. Mol. Genet. (1999)
- Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Helmken, C., Hofmann, Y., Schoenen, F., Oprea, G., Raschke, H., Rudnik-Schöneborn, S., Zerres, K., Wirth, B. Hum. Genet. (2003)
- SMN2-deletion in childhood-onset spinal muscular atrophy. Srivastava, S., Mukherjee, M., Panigrahi, I., Shanker Pandey, G., Pradhan, S., Mittal, B. Am. J. Med. Genet. (2001)
- Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Hofmann, Y., Lorson, C.L., Stamm, S., Androphy, E.J., Wirth, B. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Correction of disease-associated exon skipping by synthetic exon-specific activators. Cartegni, L., Krainer, A.R. Nat. Struct. Biol. (2003)
- Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T.F., Wirth, B. Am. J. Hum. Genet. (2002)
- New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Ogino, S., Wilson, R.B., Gold, B. Eur. J. Hum. Genet. (2004)