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PMID: 7603564 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nature ·Vol. 376 ·No. 6536 ·1995-07-13 ·Pages 145-9

Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A

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.

Related Genes

CBL2

MeSH Terms

Base Sequence Blotting, Southern Chromosome Deletion Chromosome Fragile Sites Chromosome Fragility Chromosomes, Human, Pair 11 Female Humans Male Methylation Molecular Sequence Data Pedigree Proto-Oncogene Mas Proto-Oncogene Proteins/genetics Proto-Oncogene Proteins c-cbl Repetitive Sequences, Nucleic Acid Restriction Mapping Syndrome Ubiquitin-Protein Ligases

Chemicals

MAS1 protein, human Proto-Oncogene Mas Proto-Oncogene Proteins Proto-Oncogene Proteins c-cbl Ubiquitin-Protein Ligases CBL protein, human

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Jones C

Department of Pathology, University of Cambridge, UK.

Penny L

Mattina T

Yu S

Baker E

Voullaire L

Langdon W Y

Sutherland G R

Richards R I

Tunnacliffe A

Article Info

Journal

Nature

Abbr.

Nature

ISSN

0028-0836

DOI

10.1038/376145a0

Published

1995-07-13

Pages

145-9

Language

English

Region

England

NLM ID

0410462

Subset

External Links

PubMed source DOI: 10.1038/376145a0 View journal details

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

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