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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Kumari, Daman Hayward, Bruce Nakamura, Asako J. Bonner, William M. Usdin, Karen |
| Description | Country affiliation: United States Author Affiliation: Kumari D ( Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.); Hayward B ( Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.); Nakamura AJ ( Laboratory of Molecular Pharmacology, CCR, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.); Bonner WM ( Laboratory of Molecular Pharmacology, CCR, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.); Usdin K ( Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: ku@helix.nih.gov.) |
| Abstract | Friedreich ataxia (FRDA) is a member of the Repeat Expansion Diseases, a group of genetic conditions resulting from an increase/expansion in the size of a specific tandem array. FRDA results from expansion of a GAA/TTC-tract in the first intron of the frataxin gene (FXN). The disease-associated tandem repeats all form secondary structures that are thought to contribute to the propensity of the repeat to expand. The subset of these diseases that result from a CGG/CCG-repeat expansion, such as Fragile X syndrome, also express a folate-sensitive fragile site coincident with the repeat on the affected chromosome. This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene when cells are grown under folate stress or as we showed previously, in the presence of an inhibitor of the ATM checkpoint kinase. Whether Repeat Expansion Disease loci containing different repeats form similar fragile sites was not known. We show here that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site. |
| File Format | HTM / HTML |
| ISSN | 13835718 |
| e-ISSN | 18793592 |
| Journal | Mutation Research/Genetic Toxicology and Environmental Mutagenesis |
| Volume Number | 781 |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-11-01 |
| Publisher Place | Netherlands |
| Access Restriction | Open |
| Subject Keyword | Research Support, N.i.h., Extramural Cell Line Discipline Genetics Discipline Biochemistry Molecular Sequence Data Research Support, N.i.h., Intramural In Situ Hybridization, Fluorescence Chromosomes, Human, Pair 9 Sequence Analysis, Dna Trinucleotide Repeat Expansion Chromosome Fragility Iron-binding Proteins Genetics Friedreich Ataxia |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Health, Toxicology and Mutagenesis |
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