title: Mutations of the immunoglobulin heavy chain variable region gene in CD99-deficient BJAB cell line.
abstract: Hodgkin's disease (HD) is a lymphoid neoplasm characterized by a low frequency of malignant giant tumor cells, known as Hodgkin's and Reed-Sternberg (HRS) cells. Sequence analysis of the immunoglobulin heavy chain hypervariable region (IgH V) genes of HRS cells revealed multiple nucleotide substitutions, indicating somatic mutations, and suggested that HRS cells originate from germinal center B cells or their progeny. We previously reported that CD99-antisense transfected B cell lines led to the generation of cells with a HRS phenotype. Because it is considered that HRS cells in HD carry somatic mutations of the IgH genes, we assume that somatic mutation may take place in the IgH genes of HRS-like cells which do not express CD99. Here we report that CD99 downregulated BJAB cell line has several mutations in IgH V genes. The frequency of mutation was 5.2 x 10(-4) mut.bp(-1) out of total sequenced cell clones. On the contrary, control vector transfected BJAB cell line or CD99 downregulated IM9 cell line did not show any mutations on single strand conformational polymorphism (SSCP) and sequence analysis. We expect that the analysis of the mutation pattern of the CD99-deficient BJAB cell line might be the basis for the understanding of the molecular and cellular mechanism that regulate somatic mutation and B cell selection.
authors.affiliation: Department of Pathology, Seoul National University College of Medicine, Korea.
authors.forename: Young Ho
authors.initials: YH
authors.lastname: Suh
authors.forename: Min Kyung
authors.initials: MK
authors.lastname: Kim
authors.forename: Young Kee
authors.initials: YK
authors.lastname: Shin
authors.forename: Seok Hyung
authors.initials: SH
authors.lastname: Kim
authors.forename: Kwon Ik
authors.initials: KI
authors.lastname: Oh
authors.forename: Minchan
authors.initials: M
authors.lastname: Gil
authors.forename: Min Kyung
authors.initials: MK
authors.lastname: Kim
authors.forename: Yoon-La
authors.initials: YL
authors.lastname: Choi
authors.forename: Kyeong Cheon
authors.initials: KC
authors.lastname: Jung
authors.forename: Kyung-Mi
authors.initials: KM
authors.lastname: Lee
authors.forename: Im-Soon
authors.initials: IS
authors.lastname: Lee
authors.forename: Seong Hoe
authors.initials: SH
authors.lastname: Park
mesh_terms: D000071443:12E7 Antigen; D015703:Antigens, CD / Q000235:genetics* / Q000378:metabolism; D001402:B-Lymphocytes / Q000378:metabolism; D001483:Base Sequence; D002051:Burkitt Lymphoma; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D005434:Flow Cytometry; D005803:Genes, Immunoglobulin / Q000235:genetics*; D006689:Hodgkin Disease / Q000235:genetics; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D016539:Reed-Sternberg Cells / Q000502:physiology; D016415:Sequence Alignment
chemical_list: D000071443:12E7 Antigen; D015703:Antigens, CD; C061828:CD99 protein, human; D015815:Cell Adhesion Molecules; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region