Megabase inversions in the human genome as physiological events
| Autor: | G Combriato, Hans G. Zachau, H G Klobeck, R. Ohnheiser, Weichhold Gm |
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| Rok vydání: | 1990 |
| Předmět: |
Genetics
Multidisciplinary Contig Base Sequence Genes Immunoglobulin Transcription Genetic Pseudogene Molecular Sequence Data Restriction Mapping Nucleic Acid Hybridization Locus (genetics) Gene rearrangement Biology Immunoglobulin kappa-Chains Gene duplication Chromosome Inversion Humans Human genome Chromosome Deletion Cloning Molecular Gene Chromosomal inversion |
| Zdroj: | Nature. 347(6288) |
| ISSN: | 0028-0836 |
| Popis: | The genes of the immunoglobulin kappa light chains are assembled during B-cell differentiation by somatic recombination of one of the V kappa (variable) gene segments and the J kappa-C kappa (joining-constant) gene region. This seems to occur by deletion of the DNa between V kappa and J kappa-C kappa if they are arranged in germ-line DNA in the same transcriptional polarity or by inversion of a fragment containing the V kappa gene if the polarities are opposite. We have cloned 75 V kappa genes and pseudogenes of the human kappa locus and linked them in large contigs. There seem to be no more than 85 such genes, less than 50 of these being potentially functional. Thirty-eight of the cloned genes have the same transcriptional polarity as J kappa-C kappa and are part of the so-called J kappa proximal cluster; 35 genes in a distal cluster (the result of a duplication event in evolution) have a polarity that was suggested to be opposite to the one of J kappa-C kappa. We now show that the V kappa genes of the proximal cluster rearrange by a deletion mechanism whereas the others join J kappa-C kappa by inversion of megabase-sized DNA fragments. |
| Databáze: | OpenAIRE |
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