The DOI matches its Crossref record.
Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n
Abstract
The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. The region of instability was localized to a trinucleotide repeat p(CCG) n . The sequences flanking this repeat were identical in normal and affected individuals. The breakpoints in two somatic cell hybrids constructed to break at the fragile site also mapped to this repeat sequence. The repeat exhibits instability both when cloned in a nonhomologous host and after amplification by the polymerase chain reaction. These results suggest variation in the trinucleotide repeat copy number as the molecular basis for the instability and possibly the fragile site. This would account for the observed properties of this region in vivo and in vitro.
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Cited by
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A. J., Church, D., Aburatani, H., Hunter, K., Stanton, V. P., Thirion, J.-P., Hudson, T., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90154-5 · Cited by 2,777
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Self-citationExpansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
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Metadata
- Authors
- Kremer, E. J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S. T., Schlessinger, D., Sutherland, G. R., & Richards, R. I.
- Venue
- Science
- Published
- 1991-06-21
- Volume
- 252
- Issue
- 5013
- Pages
- 1711-1714
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1989187665
- Cited by
- 908
- References
- 0
- FWCI
- 50.24
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kremer, E. J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S. T., Schlessinger, D., Sutherland, G. R., & Richards, R. I. (1991). Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n. Science. https://doi.org/10.1126/science.1675488
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