Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

• Published in: Nature (London) 1995-07, Vol.376 (6536), p.145-149
• Main Authors: Jones, C, Penny, L, Mattina, T, Yu, S, Baker, E, Voullaire, L, Langdon, W. Y, Sutherland, G. R, Richards, R. I, Tunnacliffe, A
• Format: Article
• Language: English
• Subjects: Base Sequence; Biochemistry; Biological and medical sciences; Blotting, Southern; CBL2 gene; Chromosome Deletion; Chromosome Fragile Sites; Chromosome Fragility; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); chromosomes; Chromosomes, Human, Pair 11; deletion; Disease; Etiology; Female; fragile sites; Genes; Genetics; Humanities and Social Sciences; Humans; Male; man; Medical genetics; Medical sciences; Methylation; Molecular Sequence Data; multidisciplinary; nucleotide sequence; Pedigree; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-cbl; Repetitive Sequences, Nucleic Acid; restriction endonuclease mapping; Restriction Mapping; Science; Science (multidisciplinary); Syndrome; Ubiquitin-Protein Ligases
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/376145a0

The fragile site FRA11B has been localized to the p(CCG) n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q − ) syndrome patients inherited a chromosome carrying a CBL2 p(CCG) n expansion, which was truncated close to FRA11B . These results have broad implications for the role of p(CCG) n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.