The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
Abstract
The survival motor neuron genes, SMN1 and SMN2, encode identical proteins; however, only homo- zygous loss of SMN1 correlates with the development of spinal muscular atrophy (SMA). We have previously shown that a single non-polymorphic nucleotide difference in SMN exon 7 dramatically affects SMN mRNA processing. SMN1 primarily produces a full-length RNA whereas SMN2 expresses dramatically reduced full-length RNA and abundant levels of an aberrantly spliced transcript lacking exon 7. The importance of proper exon 7 processing has been underscored by the identification of several mutations within splice sites adjacent to exon 7. Here we show that an AG-rich exonic splice enhancer (ESE) in the center of SMN exon 7 is required for inclusion of exon 7. This region functioned as an ESE in a heterologous context, supporting efficient in vitro splicing of the Drosophila double-sex gene. Finally, the protein encoded by the exon-skipping event, Delta7, was less stable than full-length SMN, providing additional evidence of why SMN2 fails to compensate for the loss of SMN1 and leads to the development of SMA.
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Cites
Identification and characterization of a spinal muscular atrophy-determining gene
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Self-citationCorrelation between severity and SMN protein level in spinal muscular atrophy
Lefebvre, S., Burlet, P., Liu, Q., Bertrandy, S., Clermont, O., Munnich, A., Dreyfuss, G., & Melki, J. (1997) · Nature Genetics · doi:10.1038/ng0797-265 · Cited by 1,100
Exon Recognition in Vertebrate Splicing
Berget, S. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.6.2411 · Cited by 1,086
Monani, U. R. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1177 · Cited by 954
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The survival motor neuron protein in spinal muscular atrophy
Coovert, D. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1205 · Cited by 714
The superfamily of arginine/serine-rich splicing factors.
Fu, X. (1995) · Europe PMC (PubMed Central) · Cited by 676
SR proteins and splicing control.
Manley, J. L., & Tacke, R. (1996) · Genes & Development · doi:10.1101/gad.10.13.1569 · Cited by 671
The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis
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Cited by
Listening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723
SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
Naryshkin, N. A., Weetall, M., Dakka, A., Narasimhan, J., Zhao, X., Feng, Z., Ling, K. K. Y., Karp, G. M., Qi, H., Woll, M. G., et al. (2014) · Science · doi:10.1126/science.1250127 · Cited by 524
McWhorter, M. L., Monani, U. R., Burghes, A. H. M., & Beattie, C. E. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200303168 · Cited by 423
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
Dion, P. A., Daoud, H., & Rouleau, G. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2680 · Cited by 313
Metadata
- Authors
- Lorson, C. L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-01-22
- Volume
- 9
- Issue
- 2
- Pages
- 259-265
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2137021233
- Cited by
- 435
- References
- 37
- FWCI
- 15.03
- Type
- journal article
- Language
- en
- Open access
- closed
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- Lorson, C. L. (2000). An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Human Molecular Genetics. https://doi.org/10.1093/hmg/9.2.259
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