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| CONSTRUCTION OF A NOVEL DATABASE CONTAINING ABERRANT SPLICING MUTATIONS OF MAMMALIAN GENES |
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| Author(s): NAKAI K, SAKAMOTO H |
| Source: GENE Volume: 141 Issue: 2 Pages: 171-177 Published: APR 20 1994 |
| Times Cited: 205 References: 18 |
| Abstract: To explore the rules for mammalian splice-site selection using a statistical approach, we constructed an aberrant splicing database containing an extensive collection of mammalian genetic disease mutations (90 genes, 209 mutations). From this database, we confirmed that: (I) more than 90% of mutations either destroy or create the splice-site consensus sequences; (2) the number of mutations mapped at individual residues in the splice-site regions roughly correlates to their conservation degrees in the consensus sequences; (3) about half of the observed aberrant splicing is exon skipping, while intron retention is rarely observed; (4) almost all of the major cryptic sites, activated by mutations, are mapped within an about 100-nt region from the authentic splice sites. Furthermore, we found that: (5) mutations are observed more frequently in the 5' splice-site region than in the 3' splice site region; (6) splice sites that are newly created by mutations are located upstream from the authentic splice sites. Hopefully, these observations will be used as rules for constructing a more effective prediction system of exon sequences. |
| Document Type: Article |
| Language: English |
| Reprint Address: NAKAI, K (reprint author), NATL INST BASIC BIOL, OKAZAKI, AICHI 444 JAPAN |
Addresses:
1. KOBE UNIV, FAC SCI, DEPT BIOL, KOBE 657, JAPAN |
| Publisher: ELSEVIER SCIENCE BV, PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS |
| Subject Category: Genetics & Heredity |
| IDS Number: NJ563 |
| ISSN: 0378-1119 |
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