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

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

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(C...

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Veröffentlicht in:Nature (London) 1995-07, Vol.376 (6536), p.145-149
Hauptverfasser: Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W. Y., Sutherland, G. R., Richards, R. I., Tunnacliffe, A.
Format: Artikel
Sprache:eng
Schlagworte:
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
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Beschreibung
Zusammenfassung: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.
ISSN:0028-0836
1476-4687
DOI:10.1038/376145a0