The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
Abstract
Expansion of the polymorphic CGG repeats within the 5'-UTR of the FMR1 gene is associated with variable transcriptional regulation of FMR1. Here we report a novel gene, ASFMR1, overlapping the CGG repeat region of FMR1 and transcribed in the antisense orientation. The ASFMR1 transcript is spliced, polyadenylated and exported to the cytoplasm. Similar to FMR1, ASFMR1 is upregulated in individuals with premutation alleles and is not expressed from full mutation alleles. Moreover, it exhibits premutation-specific alternative splicing. Taken together, these observations suggest that in addition to FMR1, ASFMR1 may contribute to the variable phenotypes associated with the CGG repeat expansion.
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Cites
High-Resolution Profiling of Histone Methylations in the Human Genome
Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I., & Zhao, K. (2007) · Cell · doi:10.1016/j.cell.2007.05.009 · Cited by 6,845
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome
Hinds, H. L., Ashley, C. T., Sutcliffe, J. S., Nelson, D. L., Warren, S. T., Housman, D. E., & Schalling, M. (1993) · Nature Genetics · doi:10.1038/ng0193-36 · Cited by 396
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
Filippova, G. N., Thienes, C. P., Penn, B. H., Cho, D. H., Hu, Y. J., Moore, J. M., Klesert, T. R., Lobanenkov, V. V., & Tapscott, S. J. (2001) · Nature Genetics · doi:10.1038/ng570 · Cited by 332
Self-citationDombrowski, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.4.371 · Cited by 289
Cited by
Cooper, T. A., Wan, L., & Dreyfuss, G. (2009) · Cell · doi:10.1016/j.cell.2009.02.011 · Cited by 1,159
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Self-citationLagier-Tourenne, C., Baughn, M., Rigo, F., Sun, S., Liu, P., Li, H.-R., Jiang, J., Watt, A. T., Chun, S., Katz, M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318835110 · Cited by 561
Targeting long non-coding RNA to therapeutically upregulate gene expression
Wahlestedt, C. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4018 · Cited by 532
Repeat expansion disease: progress and puzzles in disease pathogenesis
La Spada, A. R., & Taylor, J. P. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2748 · Cited by 488
Metadata
- Authors
- Ladd, P. D., Smith, L. E., Rabaia, N. A., Moore, J. M., Georges, S. A., Hansen, R. S., Hagerman, R. J., Tassone, F., Tapscott, S. J., & Filippova, G. N.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-10-06
- Volume
- 16
- Issue
- 24
- Pages
- 3174-3187
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2168889463
- Cited by
- 248
- References
- 4
- FWCI
- 7.03
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Ladd, P. D., Smith, L. E., Rabaia, N. A., Moore, J. M., Georges, S. A., Hansen, R. S., Hagerman, R. J., Tassone, F., Tapscott, S. J., & Filippova, G. N. (2007). An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddm293
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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