biostudies-literatureUnknown146(13)Khine HT<h4>Abstract</h4>Epstein-Barr virus (EBV) infects >90% of humans and is associated with both hematological and epithelial malignancies. Here, we analyzed 990 EBV genomes (319 newly sequenced and 671 from public databases) from patients with various diseases to comprehensively characterize genomic variations, including single nucleotide variations (SNVs) and structural variations (SVs). Although most SNVs were a result of conservative evolution and reflected the geographical origins of the viral genomes, we identified several convergent SNV hot spots within the central homology domain of EBNA3B, the transactivation domain of EBNA2, and the second transmembrane domain of LMP1. These convergent SNVs seem to fine-tune viral protein functionality and immunogenicity. SVs, particularly large deleBlood1533-1545https://www.ebi.ac.uk/biostudies/studies/S-EPMC12824656biostudies-literatureAssociation of Epstein-Barr virus genomic alterations with human pathologies.PMC12824656Khine HTHamada MSon SAkutsu YSawada AWatanabe TIizuka AIto YUmeda MKato SSato YOhshima KNaruse ASatou AKataoka HMurata TKimura HNakaguro MGoto KOkuno YKawada JIKojima YArai HfalseAssociation of Epstein-Barr virus genomic alterations with human pathologies.<h4>Abstract</h4>Epstein-Barr virus (EBV) infects >90% of humans and is associated with both hematological and epithelial malignancies. Here, we analyzed 990 EBV genomes (319 newly sequenced and 671 from public databases) from patients with various diseases to comprehensively characterize genomic variations, including single nucleotide variations (SNVs) and structural variations (SVs). Although most SNVs were a result of conservative evolution and reflected the geographical origins of the viral genomes, we identified several convergent SNV hot spots within the central homology domain of EBNA3B, the transactivation domain of EBNA2, and the second transmembrane domain of LMP1. These convergent SNVs seem to fine-tune viral protein functionality and immunogenicity. SVs, particularly large dele2025-01-01T00:00:00Z2025 Sep2026-07-15T06:31:47.881Z2026-06-30T03:20:38.139ZS-EPMC128246564056927310.1182/blood.2024028055