Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.
X-linked agammaglobulinemia (XLA) results from failure of B lymphocyte development. Immature B cells from a patient with XLA were found to produce truncated mu and delta immunoglobulin H chains encoded by D-JH-C (mu delta). The 5' terminal sequence of cDNA encoding the H chains is composed of D-JH with the characteristic GGTTTGAAG/CACTGTG consensus sequence utilized for VH gene rearrangement upstream, and a leader sequence that serves for translation of this intermediate stage of rearrangement. Failure of variable region gene rearrangement may underlie the failure of B lymphoid development in XLA.
Schwaber
J
J
Children's Hospital-Boston, Massachusetts 02115.
Chen
R H
RH
D000361:Agammaglobulinemia / Q000235:genetics* / Q000276:immunology; D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000276:immunology*; D001483:Base Sequence; D002461:Cell Line, Transformed; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D005803:Genes, Immunoglobulin; D008040:Genetic Linkage; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000032:analysis / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics*; D007138:Immunoglobulin delta-Chains / Q000032:analysis / Q000235:genetics; D007148:Immunoglobulin mu-Chains / Q000032:analysis / Q000235:genetics; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D021382:Protein Sorting Signals / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D014960:X Chromosome
D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D007138:Immunoglobulin delta-Chains; D007148:Immunoglobulin mu-Chains; D021382:Protein Sorting Signals; D004247:DNA; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; C029312:GGTACC-specific type II deoxyribonucleases