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Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine
G Weber1, S Grimmond, J Lagercrantz
1Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Abstract:
The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreover, shows loss of expression in some endocrine tumors, in accordance with a putative tumor suppressor gene function, and thus appears to be an excellent candidate for MEN1. We have therefore undertaken screening for constitutional mutations in individuals from MEN1 families. Several sequence alterations have been discovered, none of them however fulfilling the criteria for a disease-related mutation. We can now exclude PLCB3 from candidacy as the MEN1 gene.
Insights
Researchers investigated the phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1 (MEN1). Constitutional mutations were screened in MEN1 families, but no disease-related mutations were found, excluding PLCB3 as the MEN1 gene.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- Multiple Endocrine Neoplasia Type 1 (MEN1) is a genetic disorder.
- The MEN1 gene was previously localized to chromosomal region 11q13.
- Phospholipase C beta 3 (PLCB3) gene was isolated from this region and considered a candidate due to its role in signal transduction and potential tumor suppressor function.
Purpose of the Study:
- To screen for constitutional mutations in the PLCB3 gene in individuals with MEN1.
- To determine if PLCB3 is the causative gene for MEN1.
Main Methods:
- Screening of constitutional DNA from individuals from MEN1 families for sequence alterations in the PLCB3 gene.
Main Results:
- Several sequence alterations were identified in the PLCB3 gene.
- None of the identified sequence alterations met the criteria for disease-related mutations.
Conclusions:
- The PLCB3 gene can be excluded as the causative gene for multiple endocrine neoplasia type 1.
- Further research is needed to identify the actual MEN1 gene.