Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

By Luca Cartegni, Adrian R. Krainer. Nature Genetics, 2002

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View Paper: https://www.semanticscholar.org/paper/f8e6e85ec220bdc399b28aeeb0f65d8c0c426100

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Citations in the corpus

Pre-mRNA splicing and human disease. (2003, background): “Despite the potential to encode the identical protein, the SMN2 gene does not completely compensate for loss of SMN1 function because one of the nucleotide substitutions disrupts an ESE in exon 7 that causes the exon to be skipped in the majority of SMN2 mRNAs (Cartegni and Krainer 2002).”
RNA-binding proteins in human genetic disease. (2008, neutral): “SMN2 differs from the SMN1 in that it harbors a single nucleotide change in exon 7 that disrupts the binding of the SF2/ASF to an exon splicing enhancer [ 43 ].”
Genomic variants in exons and introns: identifying the splicing spoilers (2004, methodology): “The mRNA splicing pattern is analysed mainly by reverse transcriptase (RT)-PCR with primers that are specifically designed to amplify processed transcripts derived from the minigene, to distinguish them from the cell's endogenous transcript”
Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers. (2006, result): “SMN2 causes spinal muscular atrophy (Cartegni and Krainer, 2002; Kashima and Manley, 2003), along with the results presented in this manuscript, strongly suggest that the presence of ESRs along constitutively and alternatively spliced exons may account for a large fraction of the selective force on ”
ESEfinder: a web resource to identify exonic splicing enhancers (2003, methodology): “very responsive to point mutations within a critical ESE, we showed that when multiple SF2/ASF-dependent ESEs were substituted for each other or mutated, there was a strong correlation between exon-inclusion efficiency and the matrix scores (12,17).”
Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. (2007, background): “It is exemplified by nonsense mutations that, like other single point mutations, disrupt the binding of an exonic splicing enhancer (ESE) by its cognate SR protein so as to alter splice-site selection (e.g., see Caputi et al. 2002; Cartegni and Krainer 2002).”
Mechanisms and Regulation of Alternative Pre-mRNA Splicing (2015, background): “Among the first examples of human disease mutations affecting splicing were the β-globin thalassemia mutations (discussed above) (90, 91) and mutations in the SMN-2 gene, which give rise to spinal muscular atrophy (94, 95).”
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization (2006, background): “(i) protein structures, by changing single amino acids (5,6); (ii) transcriptional regulation, by affecting transcription factor binding sites in promoter or intronic enhancer regions (7,8); and (iii) alternative splicing regulation, by disrupting exonic splicing enhancers (9) or silencers.”