Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.

Journal article

Fragile sites appear visually as nonstaining gaps on chromosomes that are inducible by specific cell culture conditions. Expansion of CGG/CCG repeats has been shown to be the molecular basis of all five folate-sensitive fragile sites characterized molecularly so far, i.e., FRAXA, FRAXE, FRAXF, FRA11B, and FRA16A. In the present study we have refined the localization of the FRA10A folate-sensitive fragile site by fluorescence in situ hybridization. Sequence analysis of a BAC clone spanning FRA...

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Authors: Sarafidou, T; Kahl, C; Martinez-Garay, I; Mangelsdorf, M; Gesk, S

• Journal: Genomics
• Volume: 84
• Issue: 1
• Pages: 69-81
• Publication date: 2004-07-01
• DOI: 10.1016/j.ygeno.2003.12.017
• EISSN: 1089-8646
• ISSN: 0888-7543
• Language: English
• Keywords: Chromosome Fragility; Organ Specificity; Molecular Sequence Data; Humans; Alleles; DNA Methylation; Trinucleotide Repeats; Alternative Splicing; Chromosome Fragile Sites; European Collaborative Consortium for the Study of ADLTE; Intranuclear Space; Transcription, Genetic; Nuclear Proteins; Sequence Alignment; Amino Acid Sequence; Trinucleotide Repeat Expansion