Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene.
| Publication Type | Academic Article |
| Authors | Hofker M, Nelen M, Klasen E, Nukiwa T, Curiel D, Crystal R, Frants R |
| Journal | Biochem Biophys Res Commun |
| Volume | 155 |
| Issue | 2 |
| Pagination | 634-42 |
| Date Published | 09/15/1988 |
| ISSN | 0006-291X |
| Keywords | Cloning, Molecular, Deoxyribonucleases, Type II Site-Specific, alpha 1-Antitrypsin |
| Abstract | 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. |
| DOI | 10.1016/s0006-291x(88)80542-4 |
| PubMed ID | 2901833 |