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Results report exon 6B, a novel exon, generated by exonization of an intronic Alu-like sequence from both SMN1 and SMN2, and validate the expression of exon 6B-containing transcripts SMN6B and SMN6BDelta7 in human tissues and cell lines. hnRNP C is shown to be a potential regulator of its expression and demonstrate that SMN6B is a substrate of nonsense-mediated decay. Also, an interaction of SMN6B with Gemin2 (show GEMIN2 Antibodies) was found.
Widespread intron retention and markers of the DNA damage response were observed with SMN1 depletion in human SH-SY5Y neuroblastoma cells and human induced pluripotent stem cell-derived motor neurons.
Study examined the effect of 2 mutations on SMN (show STMN1 Antibodies) protein expression: a G-to-C transversion, leading to a tryptophan-to-serine substitution (p.Trp92Ser) in the Tudor domain; and a single thymine insertion between nucleotides 819 and 820 in exon 6 that causes a frameshift, changing all the amino acids of the C-terminal domain from the point of the mutation onward (p.Thr274Tyrfs). Mutations may affect stability and levels.
The authors show by NMR spectroscopy that both RNA recognition motifs of hnRNP A1 can bind simultaneously to a single bipartite motif of the human intronic splicing silencer ISS-N1, which controls survival of motor neuron exon 7 splicing.
Homozygous deletion of the SMN1 gene have been detected in more than 95% of spinal muscular atrophy patients
The increases of the SMN1 and SC35 (show SRSF2 Antibodies) 1.7-kb mRNA levels reached about 4- and 6.5-fold in fibroblasts.
Loganin is capable of increas-ing the SMN (show STMN1 Antibodies) protein level under SMN (show STMN1 Antibodies)-deficient conditions both inin vitro and in vivo models of spinal muscular atrophy via Akt (show AKT1 Antibodies)/mTOR (show FRAP1 Antibodies) pathway.
Activation of a cryptic 5' splice site in transcripts derived from SMN1 reversed a pathogenic G-to-C mutation at the first position of intron 7.
Mutation in SMN1 is associated with Spinal Muscular Atrophy.
Research has shown that SMN (show STMN1 Antibodies), both on the mRNA and protein level, is highly affected by cellular stress. In this review we will summarize the research that highlights the roles of SMN (show STMN1 Antibodies) in the disease process and the response of SMN (show STMN1 Antibodies) to various environmental stresses.
Survival Motor Neuron (SMN) protein is required for normal mouse liver development
Widespread intron retention, particularly of minor U12 introns, in the spinal cord of mice 30 d after SMA induction.
A proteomic profile of embryonic stem cells with low smn (show STMN1 Antibodies) protein revealed thematic changes consistent with the developmental dysfunction seen in the pathophysiological development of patients with spinal muscular atrophy. Pathways associated with mRNA spicing, protein translation, post-translational modification and perhaps most striking, mitochondrial function and specifically mitochondrial dysfunction were highlighted.
miR (show MLXIP Antibodies)-431 expression was highly increased, and a number of its putative mRNA targets were significantly downregulated in motor neurons after SMN (show STMN1 Antibodies) loss. Further, we found that miR (show MLXIP Antibodies)-431 regulates motor neuron neurite length by targeting several molecules previously identified to play a role in motor neuron axon outgrowth, including chondrolectin (show CHODL Antibodies)
To determine the dependence of oligodendrocyte (OL)on the Smn (show STMN1 Antibodies) protein(SMN1), we utilized the Smn (show STMN1 Antibodies)-/-;SMN2 (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (show STMN1 Antibodies) protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.
our studies show that this G-motif represents a novel and essential determinant for axonal localization of the Anxa2 (show ANXA2 Antibodies) mRNA mediated by the SMN (show STMN1 Antibodies) complex.
A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN (show STMN1 Antibodies), SMN (show STMN1 Antibodies)-AS1 (show ARSB Antibodies), is enriched in neurons and transcriptionally represses SMN (show STMN1 Antibodies) expression by recruiting the epigenetic Polycomb (show CBX2 Antibodies) repressive complex-2.
SMN1 expression restoration is curative in a spinal muscular atrophy model mice.
Survival motor neuron 1, and survival motor neuron 2, depletion results in increased alternative splicing events.
Data show that the coding sequence of survival of motor neuron 2 (SMN2) differs from that of survival motor neuron 1 (SMN1) by a single nucleotide (c.840C>T) at codon 280 in exon 7.
SMN (show SNRPN Antibodies) protein functions in cytoplasmic Sm-core assembly and in the recruitment of the snRNA cap hypermethylase
we established that the additional supply of Smn (show SNRPN Antibodies) protein in motoneurons is necessary for proper axonogenesis in a cell-autonomous manner
In motor neurons, smn1 interacts with the RNA binding protein (show RBM24 Antibodies), HuD (show ELAVL4 Antibodies) and regulates motoneuron development and function.
our finding that elevation of Pgk1 (show PGK1 Antibodies) levels or activity, via injection of Pgk1 (show PGK1 Antibodies) mRNA or treatment with terazosin respectively, robustly ameliorated MN pathology in smn (show SNRPN Antibodies) morphant zebrafish provides an initial demonstration that these pathways are amenable to therapeutic intervention.
Since Gemin2 (show GEMIN2 Antibodies) and SMN (show SNRPN Antibodies) both function in snRNP (show LSM2 Antibodies) biogenesis yet only SMN (show SNRPN Antibodies) knockdown causes motor axon defects, these data are consistent with an additional role for SMN (show SNRPN Antibodies) that is snRNP (show LSM2 Antibodies) independent.
SMN (show SNRPN Antibodies) deficiency affects splicing and abundance of nrxn2a. This may explain the pre-synaptic defects at neuromuscular endplates in SMA pathophysiology.
SMN (show SNRPN Antibodies) is needed early in development of motoneuron dendrites and axons to develop normally and that this is essential for proper connectivity and movement.
These results show that survival motor neuron functions in motor axon development and suggest that these early developmental defects may lead to subsequent motoneuron loss.
Survival motor neuron has a novel function in motor neurons independent of small nuclear ribonucleoprotein (snRNP (show LSM2 Antibodies)) biosynthesis.
Smn (show SNRPN Antibodies) mutants in zebrafish survive to larval stages and exhibit presynaptic neuromuscular junction defects.
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.
survival motor neuron 1
, survival motor neuron protein
, component of gems 1
, survival motor neuron 1 protein
, tudor domain containing 16A
, survival of motor neuron protein
, survival motor neuron protein 1