Abnormal processing of β-Malay globin RNA
| Autor: | H.E. Brickner, J. M. Gonzalez-Redondo, G.F. Atweh |
|---|---|
| Rok vydání: | 1989 |
| Předmět: |
Hemoglobins
Abnormal Biophysics In Vitro Techniques Biology Transfection Biochemistry Homology (biology) hemic and lymphatic diseases Gene duplication Humans splice RNA Messenger Globin RNA Processing Post-Transcriptional Molecular Biology Gene Genetics Splice site mutation Base Sequence Gene Amplification RNA Cell Biology Molecular biology Globins RNA splicing Thalassemia HeLa Cells |
| Zdroj: | Biochemical and Biophysical Research Communications. 163:8-13 |
| ISSN: | 0006-291X |
| DOI: | 10.1016/0006-291x(89)92090-1 |
| Popis: | Hemoglobin Malay (alpha 2 beta 2 19 Asn----Ser) has been observed in a few Malaysian patients with thalassemia intermedia. The beta Malay substitution increases the homology of the cryptic splice site at codons 17/18/19 of the beta-globin gene to the donor consensus splice sequence, suggesting that the beta-thalassemia associated with this mutation may be due to the generation of a new splice site. To test this hypothesis, we constructed a hybrid gene where we replaced part of a normal beta-globin gene with a PCR amplified region of the beta Malay gene. The expression of this mutant gene was studied in a heterologous transient expression system. The data show that nearly 25% of globin mRNA produced by this gene is abnormally spliced at the new splice site, providing a molecular mechanism for the beta-thalassemia associated with the mutation. |
| Databáze: | OpenAIRE |
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