Role of RNA Splicing Mutations in Diffuse Large B Cell Lymphoma

Abstract

Dereje Berta,1 Mekonnen Girma,2 Mulugeta Melku,1,3 Tiruneh Adane,1 Bisrat Birke,1 Aregawi Yalew1 1Department of Hematology and Immunohematology, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia; 2Department of Quality Assurance and Laboratory Management, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia; 3College of Medicine and Public Health, Flinders University, Adelaide, SA, AustraliaCorrespondence: Dereje Berta, Email [email protected]: Ribonucleic acid splicing is a crucial process to create a mature mRNA molecule by removing introns and ligating exons. This is a highly regulated process, but any alteration in splicing factors, splicing sites, or auxiliary components affects the final products of the gene. In diffuse large B-cell lymphoma, splicing mutations such as mutant splice sites, aberrant alternative splicing, exon skipping, and intron retention are detected. The alteration affects tumor suppression, DNA repair, cell cycle, cell differentiation, cell proliferation, and apoptosis. As a result, malignant transformation, cancer progression, and metastasis occurred in B cells at the germinal center. B-cell lymphoma 7 protein family member A (BCL7A), cluster of differentiation 79B (CD79B), myeloid differentiation primary response gene 88 (MYD88), tumor protein P53 (TP53), signal transducer and activator of transcription (STAT), serum- and glucose-regulated kinase 1 (SGK1), Pou class 2 associating factor 1 (POU2AF1), and neurogenic locus notch homolog protein 1 (NOTCH) are the most common genes affected by splicing mutations in diffuse large B cell lymphoma.Keywords: RNA-splicing, aberrant splicing, alternative splicing, diffuse large B-cell lymphoma

Keywords

• rna-splicing
• aberrant splicing
• alternative splicing
• diffuse large b-cell lymphoma