Human cystathionine β-synthase: gene organization and expression of different 5′ alternative splicing
| Autor: | Véronique Paul, P. Kamoun, Raphael Escañez, Jean François Chassé, J. London |
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| Rok vydání: | 1997 |
| Předmět: |
Genetics
Splice site mutation Base Sequence RNA Splicing Molecular Sequence Data Alternative splicing CAAT box Cystathionine beta-Synthase Biology Exon shuffling Molecular biology Gene Expression Regulation Enzymologic Rats Mice Exon Exon trapping Genes Complementary DNA Animals Humans RNA Messenger Tandem exon duplication Promoter Regions Genetic |
| Zdroj: | Mammalian Genome. 8:917-921 |
| ISSN: | 1432-1777 0938-8990 |
| DOI: | 10.1007/s003359900611 |
| Popis: | The human cystathionine β-synthase (CBS) gene spans in excess of 30 kb and consists of 19 exons, with three different 5′ untranslated regions including three different exons 1 (exons 1 a, b, and c). Exon la and 1b are 390 bp apart from each other and are linked to exon 2 in cDNA « a » and cDNA « b ». Exon 1c, which linked to exon 5 in cDNA « c », is 7 kb apart from exon 1b. All splice sites conform to the GT/AG rule, including those from exon la or 1b to exon 2 and from exon 1c to exon 5. Upstream of exons la and 1b, we found two putative promoter sequences with high C + G nucleotide content, one CAAT box at —70 nucleotides (for exon lb), no TATA box, several Sp1 binding regulatory consensus sequences, and some other regulatory sequences. Human adult and fetal Northern blots hybridized with total cDNA containing exon 1b, or specific probes from exons 1 (b and c) showed mRNAs of 2.5 kb, 2.7 kb, and 3.7 kb. These results suggest that the mRNAs containing the different exons 1 are under the control of different promoters. |
| Databáze: | OpenAIRE |
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