Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene
| Autor: | E. C. Klasen, T. Nukiwa, Marten H. Hofker, Rune R. Frants, D. Curiel, M. Nelen, Ronald G. Crystal |
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| Rok vydání: | 1988 |
| Předmět: |
Pseudogene
Molecular Sequence Data Biophysics Biology Biochemistry Homology (biology) Cell Line Exon Restriction map Start codon Gene cluster Animals Cloning Molecular Deoxyribonucleases Type II Site-Specific Molecular Biology Gene Genetics Base Sequence Chromosome Mapping DNA Restriction Enzymes Cell Biology Molecular biology alpha 1-Antitrypsin Cosmid Chromosome Deletion Polymorphism Restriction Fragment Length |
| Zdroj: | Biochemical and Biophysical Research Communications. 155:634-642 |
| ISSN: | 0006-291X |
| DOI: | 10.1016/s0006-291x(88)80542-4 |
| Popis: | Cosmid clones containing alpha 1-antitrypsin (alpha 1AT) gene sequences were observed to contain alpha 1AT-like sequences approximately 12 kb downstream of the authentic alpha 1AT gene. Restriction mapping suggested the alpha 1AT-like gene lacks promoter sequences. Cosmid clones from one library contained a truncated alpha 1AT-like gene with a deletion encompassing 1745 bp, including the whole exon IV and part of exon V. Sequencing of exon II of this truncated gene revealed a nucleotide homology of 76% but included critical mutations in the start codon (ATG - greater than ATA) and the 3' exon-intron junction. These results strongly suggest that the truncated alpha 1AT-like gene is a pseudogene, which is present at a frequency of 0.30 in the Dutch population. |
| Databáze: | OpenAIRE |
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