Human Tcrb-V6.10 is a pseudogene with Alu repetitive sequences in the promoter region.
Tcrb-V6.10 represents an abnormal human V gene with an Alu insertion in the promoter, a point mutation of a conserved Cys at position 23, and a missing nonamer within the usually conserved recombinase signal sequence. Here it is shown that b-V6.10 is found in the genome of most individuals, is normally located in the Tcrb-V locus on chromosome 7, but is not rearranged or transcribed. Thus, it is likely that the abnormal signal sequence precludes recombination and that the Alu insertion results in a disabled promoter, indicating the functional importance of the affected regions. Tcrb-V6.10 probably evolved by duplication of an ancestral Tcrb V13-V6-V5 cassette, like other members of the large b-V6 subfamily, and more recently became inactivated into a pseudogene.
Department of Medicine, Cornell University Medical College, New York, NY 10021.
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Li
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Wong
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Szabo
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Posnett
D001483:Base Sequence; D015139:Blotting, Southern; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004251:DNA Transposable Elements / Q000235:genetics; D015333:Gene Rearrangement, beta-Chain T-Cell Antigen Receptor; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011544:Pseudogenes / Q000235:genetics*; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014158:Transcription, Genetic
D004251:DNA Transposable Elements; D016693:Receptors, Antigen, T-Cell, alpha-beta