1991 Fiscal Year Final Research Report Summary
Genetic mechanisms of the complement deficiency associated with immune abnormalities
| Project/Area Number |
02454186
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Immunology
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| Research Institution | Kanazawa University |
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Principal Investigator |
TAKAHASHI Morinobu Kanazawa University, Cancer Research Institute, Professor, がん研究所, 教授 (80019877)
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| Project Period (FY) |
1990 – 1991
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| Keywords | Complement deficiency / Molecular cloning / Mouse C4 / B2 suquence / RNA splicing / retrotransposon / レトロトランスポゾン |
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| Research Abstract |
1) In order to gain insight info the genetic mechanism of human C3 deficiency, mRNA and DNA extracted from peripheral blood were analyzed by Northern and Southern blotting. Furthermore, C3 gene of 16kb long was isolated from the patient DNA and subjected to extensive structural and functional analyzes. The combined results showed that the C3 deficient state of this patient is caused by genetic irregularities at the posttranscriptional and pretranslational level.
2) Mouse strains of H-2_k haplotype are invariably low C4 producers. Analysis of C4 mRNA from these mouse strains'revealed the presence of abnormal 200bp insert consisting of B2 repetitive sequence and part of intronic sequence. Subsequent structural. analyses of C4 genes isolated from low C4 producers showed the retrotransposon-like insertion of B2 sequent in the 13th intron of the gene, which probably accounts for the aberrant RNA splicing of the C4 transcript.
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