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A third human CBL gene is on chromosome 19
V Ollendorff1, M Mattei, E Fournier
1U.119 Inserm, 27 Bd. Lei Roure, 13009 Marseille, France.
Abstract:
CBL genes encode cytoplasmic proteins involved in signal transduction downstream of a number of receptors including tyrosine kinases, cytokine receptors, and T-cell or B-cell receptors. They seem to be transducers associated with negative regulation of signals, and, as such, may be potential tumor suppressors. Using a probe derived from an expressed sequence tag, we isolated a cosmid containing part of a new CBL gene, CBLc, related to the two characterized paralogous genes CBLa and CBLb. Using the cosmid in fluorescence in situ hybridization of human metaphase chromosomes, we localized the CBLc gene to band 13.2 of chromosome 19. We show that the 19q12.2-13.3 region where CBLc is located shows paralogy with two other regions of the human genome, 3q22-q27 and 11q22-q24 where CBLb and CBLa are located, respectively. Genes from several other families are located in these regions.
Insights
Researchers identified a new CBL gene, CBLc, involved in cellular signal regulation and potentially acting as a tumor suppressor. This gene was localized to chromosome 19, showing genomic similarities to related CBL genes.
Area of Science:
- Molecular Biology
- Genetics
- Oncology
Background:
- CBL genes encode cytoplasmic proteins crucial for signal transduction pathways.
- These proteins act as negative regulators of signaling, suggesting a role as tumor suppressors.
- Two CBL genes, CBLa and CBLb, have been previously characterized.
Purpose of the Study:
- To identify and characterize a novel CBL gene, designated CBLc.
- To determine the genomic location of the CBLc gene.
- To investigate potential genomic paralogy involving CBLc, CBLa, and CBLb.
Main Methods:
- Isolation of a cosmid containing CBLc using an expressed sequence tag probe.
- Fluorescence in situ hybridization (FISH) on human metaphase chromosomes to map CBLc.
- Comparative genomic analysis to identify paralogous regions.
Main Results:
- A new CBL gene, CBLc, was isolated and identified.
- The CBLc gene was localized to chromosome 19, specifically band 19q13.2.
- The 19q13.2 region containing CBLc exhibits paralogy with regions 3q22-q27 (CBLb) and 11q22-q24 (CBLa).
Conclusions:
- CBLc represents a newly identified member of the CBL gene family.
- The chromosomal localization of CBLc and its paralogous relationships provide insights into genome evolution.
- Further research into CBLc's function may elucidate its role in signal transduction and cancer.