title: Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.
abstract: 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.
authors.affiliation: Department of Pathology, University of Cambridge, UK.
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.forename: L
authors.initials: L
authors.lastname: Penny
authors.forename: T
authors.initials: T
authors.lastname: Mattina
authors.forename: S
authors.initials: S
authors.lastname: Yu
authors.forename: E
authors.initials: E
authors.lastname: Baker
authors.forename: L
authors.initials: L
authors.lastname: Voullaire
authors.forename: W Y
authors.initials: WY
authors.lastname: Langdon
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
authors.forename: R I
authors.initials: RI
authors.lastname: Richards
authors.forename: A
authors.initials: A
authors.lastname: Tunnacliffe
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D008297:Male; D008745:Methylation; D008969:Molecular Sequence Data; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D050721:Proto-Oncogene Proteins c-cbl; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D013577:Syndrome; D044767:Ubiquitin-Protein Ligases
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D050721:Proto-Oncogene Proteins c-cbl; D044767:Ubiquitin-Protein Ligases; C067419:CBL protein, human