@article{7549a119d8654283b26f1eaf722d2472,
title = "FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis",
abstract = "A common mechanism for chromosomal fragile site genesis is not yet apparent. Folate-sensitive fragile sites are expanded p(CCG)n repeats that arise from longer normal alleles. Distamycin A or bromodeoxyuridine-inducible fragile site FRA16B is an expanded AT-rich ∼33 bp repeat; however, the relationship between normal and fragile site alleles is not known. Here, we report that bromodeoxyuridine-inducible, distamycin A-insensitive fragile site FRA10B is composed of expanded ∼42 bp repeats. Differences in repeat motif length or composition between different FRA10B families indicate multiple independent expansion events. Some FRA10B alleles comprise a mixture of different expanded repeat motifs. FRA10B fragile site and long normal alleles share flanking polymorphisms. Somatic and intergenerational FRA10B repeat instability analogous to that found in expanded trinucleotide repeats supports dynamic mutation as a common mechanism for repeat expansion.",
author = "Hewett, \{Duncan R.\} and Oliva Handt and Lynne Hobson and Marie Mangelsdorf and Eyre, \{Helen J.\} and Elizabeth Baker and Sutherland, \{Grant R.\} and Simone Schuffenhauer and Mao, \{Jen I.\} and Richards, \{Robert I.\}",
note = "Funding Information: The authors wish to thank Dr. Denis Le Paslier for the provision of YACs, Dr. Jean Weissenbach for information on genetic markers prior to their publication, Shirley Richardson for excellent technical assistance, Chris Jones for helpful suggestions, John Mulley for coordinating efforts to map FRA10B between D10S597 and D10S554, and Kathie Friend, Julie Nancarrow, Joseph Gecz, Masatake Yamauchi, and Sui Yu for discussions. R. I. R. thanks Shelley Richards for support and encouragement. This work was supported by grants to R. I. R. and G. R. S. from the National Health and Medical Research Council of Australia and the WCH Research Foundation. G. R. S. is an International Research Scholar of the Howard Hughes Medical Institute. D. H. is the recipient of a Wellcome Trust Travelling Fellowship. O. H. is the recipient of a fellowship from the DFG. ",
year = "1998",
month = may,
doi = "10.1016/S1097-2765(00)80077-5",
language = "English",
volume = "1",
pages = "773--781",
journal = "Molecular Cell",
issn = "1097-2765",
publisher = "Cell Press",
number = "6",
}