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Survival of motor neuron 1, telomeric

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. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. 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 encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, AGE, OUT, ACID
Papers using SmaI antibodies
Bcl-2 and accelerated DNA repair mediates resistance of hair follicle bulge stem cells to DNA-damage-induced cell death.
Cotterill Sue, In PLoS ONE, 2009
... BglII and SmaI restriction enzymes were purchased from New England Biolabs (Ipswich, MA) ...
Gut-residing segmented filamentous bacteria drive autoimmune arthritis via T helper 17 cells.
Heimesaat Markus M., In PLoS ONE, 2009
... cDNA (Open Biosystems, Clone ID 30740802) was digested by EcoRI/SmaI and inserted into the EcoRI/SmaI site of pIRES2-EGFP (Clontech).
A causative link between the structure of aberrant protein oligomers and their toxicity.
Buckle Ashley M., In PLoS ONE, 2009
... BamHI-SmaI digestion from pGEX-6P-1 and subcloned in the pQE-30 vector (Qiagen Hamburg GmbH, Hamburg, Germany) ...
Subcutaneous IGF-1 is not beneficial in 2-year ALS trial
Krainer Adrian R. et al., In Nature, 2007
... Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice ...
Two PEST-like motifs regulate Ca2+/calpain-mediated cleavage of the CaVbeta3 subunit and provide important determinants for neuronal Ca2+ channel activity.
Bridger Joanna Mary, In PLoS ONE, 2005
... The PCR product was cloned into pCR®II-TOPO® (Invitrogen), per manufacturer's instructions, to create pCRII-TOPO-SMN, and subcloned into pEGFP-C3 (Clontech) using BglII and SalI ...
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Papers on SmaI
Pharmacologically-induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Ko et al., Los Angeles, United States. In Hum Mol Genet, Feb 2016
SMA is caused by deletion or mutation of the survival motor neuron 1 (SMN1) gene and the nearly identical SMN2 gene fails to generate adequate levels of functional SMN protein due to a splicing defect.
SMN affects membrane remodelling and anchoring of the protein synthesis machinery.
Grazia et al., Roma, Italy. In J Cell Sci, Feb 2016
The Survival Motor Neuron (SMN) protein is ubiquitously involved in assembly of spliceosomal small nuclear ribonucleoprotein particles.
SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.
Greenblatt et al., Toronto, Canada. In Nature, Feb 2016
This R1810me2s modification requires protein arginine methyltransferase 5 (PRMT5) and recruits the Tudor domain of the survival of motor neuron (SMN, also known as GEMIN1) protein, which is mutated in spinal muscular atrophy.
Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
Song et al., Beijing, China. In J Zhejiang Univ Sci B, Jan 2016
The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease.
Placental Development in a Mouse Model of Spinal Muscular Atrophy.
Schulz et al., Morocco. In Biochem Biophys Res Commun, Jan 2016
UNASSIGNED: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder, leading to fatal loss of motor neurons.
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.
van Es et al., Utrecht, Netherlands. In Neurobiol Aging, Jan 2016
To dissect the genetic architecture of sporadic ALS, we undertook a large sequencing study in 755 apparently sporadic ALS cases and 959 controls, analyzing 10 ALS genes: SOD1, C9orf72, TARDBP, FUS, ANG, CHMP2B, ATXN2, NIPA1, SMN1, and UNC13A.
Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?
Corti et al., Milano, Italy. In Cell Mol Life Sci, Jan 2016
SMA is due to homozygous mutations and/or deletions in the survival motor neuron 1 gene and subsequent reduction of the SMN protein, leading to the death of motor neurons.
Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular Atrophy.
Rubin et al., Cambridge, United States. In Cell Stem Cell, Dec 2015
Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene.
Spinal Muscular Atrophy.
Kissel et al., Columbus, United States. In Neurol Clin, Nov 2015
Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1.
Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy.
Singh et al., Ames, United States. In Future Med Chem, Sep 2015
SMA is primarily caused by low levels of SMN protein owing to deletions or mutations of the SMN1 gene.
Disease mechanisms and therapeutic approaches in spinal muscular atrophy.
Pellizzoni et al., New York City, United States. In J Neurosci, Jul 2015
SMA is caused by homozygous mutations in the survival motor neuron 1 (SMN1) gene and retention of at least one copy of the hypomorphic gene paralog SMN2.
Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.
Wirth et al., Köln, Germany. In Front Neurosci, 2014
Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene.
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Metzger et al., South Plainfield, United States. In Science, 2014
Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene.
SMN is required for sensory-motor circuit function in Drosophila.
McCabe et al., New York City, United States. In Cell, 2012
Spinal muscular atrophy (SMA) is a lethal human disease characterized by motor neuron dysfunction and muscle deterioration due to depletion of the ubiquitous survival motor neuron (SMN) protein.
An SMN-dependent U12 splicing event essential for motor circuit function.
Pellizzoni et al., New York City, United States. In Cell, 2012
Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein.
Structure of a RING E3 ligase and ubiquitin-loaded E2 primed for catalysis.
Hay et al., Dundee, United Kingdom. In Nature, 2012
crystal structure of the dimeric RING domain of rat RNF4 in complex with E2 (UbcH5A) linked by an isopeptide bond to ubiquitin
A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein.
Rubin et al., United States. In Dev Biol, 2012
Data suggest a critical role of aurvival of motor neuron SMN1 and SMN2 proteins in the intrinsic regulation of muscle differentiation and suggest that abnormal muscle development contributes to the manifestation of spinal muscular atrophy (SMA) symptoms.
Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.
Sumner et al., Baltimore, United States. In J Neurosci, 2012
SMN plays distinct roles in muscle, neuromuscular junctions, and motor neuron somal synapses
Spinal muscular atrophy: clinical spectrum and genetic mutations in Pakistani children.
Saleem et al., Karāchi, Pakistan. In Neurol India, 2012
SMA is not an uncommon neurodegenerative disorder in Pakistan and SMA type I was the most common type. SMN1 gene deletion was the most common genetic deletion found in this study.
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
Freson et al., Leuven, Belgium. In Plos One, 2011
significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls.
More papers using SmaI antibodies
Temporally specific burst in cell proliferation increases hippocampal neurogenesis in protracted abstinence from alcohol.
Mayeux Richard, In PLoS ONE, 2003
... Indeed, the second step consisted of digesting the EYFPBax cDNA by NheI/SmaI enzymes from the pEYFP-C1 vector (Clontech, USA) followed by a Klenow ...
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
Burghes Arthur H.M. et al., In The Journal of Cell Biology, 2000
Separately, a ∼3.4-kb KpnI–SacII SMN promoter fragment was cloned into the pEGFP (CLONTECH Laboratories, Inc.) vector and ...
High mobility of proteins in the mammalian cell nucleus
Galardy Paul J., In PLoS ONE, 1999
... Full-length RNF123 was subcloned into XhoI-SmaI digested pEGFP-C1 mammalian expression vector (Clontech).
Recognition of specific DNA sequences by the c-myb protooncogene productrole of three repeat units in the DNA-binding domain
Leder Philip et al., In The Journal of Experimental Medicine, 1992
... -based reporter constructs, the following fragments were assembled using the SalI-SmaI fragment of pβGal vectors (CLONTECH Laboratories, Inc.) as a backbone: ...
Molecular Cloning: A Laboratory Manual.
Chammas Roger, In PLoS ONE, 1991
... In all cases, orientation of Kv3.1 cDNA molecules was determined with SmaI digests (New England BioLabs, Ipswich, MA, USA) ...
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