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Expression properties, structural features and functional analysis of CALR E381A in MPN patients
Kaihong Xu1, Qunfang Ge1, Yanli Zhang1
1Department of Hematology, Ningbo First Hospital Ningbo, Zhejiang, China.
American Journal of Translational Research
|August 10, 2023
Summary
The CALR E381A variant is not a driver mutation in myeloproliferative neoplasms (MPN) but may indicate an inherited risk in East Asian populations.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic stem cell disorders.
- Calreticulin (CALR) mutations are frequently found in MPN, particularly in essential thrombocythemia and primary myelofibrosis.
Purpose of the Study:
- To investigate the expression properties, structural features, and function of the CALR E381A variant in MPN patients.
- To determine if CALR E381A is a driver mutation or a risk single nucleotide polymorphism (SNP).
Main Methods:
- Retrospective study of 435 MPN patients.
- PCR and Sanger sequencing to identify CALR exon 9 mutations.
- Bioinformatics analysis for physicochemical and structural properties.
- Functional analysis using UT-7/mpl cell growth assays.
Main Results:
- CALR E381A was identified in 19.6% of MPN patients.
- The frequency of CALR E381A was significantly higher in East Asian polycythemia vera or essential thrombocythemia patients compared to its frequency as an SNP.
- CALR E381A did not alter cell growth in UT-7/mpl cells, unlike typical frameshift mutations.
Conclusions:
- CALR E381A is not a driver mutation for MPN development.
- CALR E381A may represent a risk SNP associated with inherited predisposition to MPN in East Asian populations.
