{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["95(5)"],"submitter":["Goossens T"],"pubmed_abstract":["Human naive and germinal center (GC) B cells were sorted by flow cytometry and rearranged VH region genes were amplified and sequenced from single cells. Whereas no deletions or insertions were found in naive B cells, approximately 4% of in-frame and >40% of out-of-frame rearrangements of GC B cells harbored deletions and/or insertions of variable length. The pattern of deletions/insertions and their restriction to mutated V genes strongly suggests that they result from somatic hypermutation. Deletions and insertions account for approximately 6% of somatic mutations introduced into rearranged VH region genes of GC B cells. These deletions/insertions seem to be the main cause for the generation of heavy chain disease proteins. Furthermore, it appears that several types of oncogene translocations (like c-myc translocations in Burkitt's lymphoma) occur as a byproduct of somatic hypermutation within the GC-and not during V(D)J recombination in the bone marrow as previously thought."],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["2463-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC19376"],"repository":["biostudies-literature"],"pubmed_title":["Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease."],"pmcid":["PMC19376"],"pubmed_authors":["Klein U","Kuppers R","Goossens T"],"additional_accession":[]},"is_claimable":false,"name":"Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease.","description":"Human naive and germinal center (GC) B cells were sorted by flow cytometry and rearranged VH region genes were amplified and sequenced from single cells. Whereas no deletions or insertions were found in naive B cells, approximately 4% of in-frame and >40% of out-of-frame rearrangements of GC B cells harbored deletions and/or insertions of variable length. The pattern of deletions/insertions and their restriction to mutated V genes strongly suggests that they result from somatic hypermutation. Deletions and insertions account for approximately 6% of somatic mutations introduced into rearranged VH region genes of GC B cells. These deletions/insertions seem to be the main cause for the generation of heavy chain disease proteins. Furthermore, it appears that several types of oncogene translocations (like c-myc translocations in Burkitt's lymphoma) occur as a byproduct of somatic hypermutation within the GC-and not during V(D)J recombination in the bone marrow as previously thought.","dates":{"release":"1998-01-01T00:00:00Z","publication":"1998 Mar","modification":"2024-11-09T20:15:34.642Z","creation":"2019-03-27T00:17:46Z"},"accession":"S-EPMC19376","cross_references":{"pubmed":["9482908"],"doi":["10.1073/pnas.95.5.2463"]}}