1998 Fiscal Year Final Research Report Summary
Partial Overlaping between Protective Protein and Phospholipid Transfer Protein Genes
| Project/Area Number |
09672316
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| Research Category |
Grant-in-Aid for Scientific Research (C).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | The Tokyo Metropolitan Institute of Medical Science |
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Principal Investigator |
SHIMMOTO Michie The Tokyo Metropolitan Institute of Medical Science, Clinical Genetics Researche, 臨床遺伝学研究部門, 研究員 (20216237)
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| Project Period (FY) |
1997 – 1998
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| Keywords | protective protein / phospholipid transfer protein / gene overlap / galactosialidosis |
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| Research Abstract |
Protective protein (PP) is a multi functional glycoprotein which regulates the expression of b-galactosidase and neuraminidase, by stabilizing the former and by activating the letter, through the formation of multienzymic complex in lysosomes. Phospholipid transfer protein (PLTP) promotes the exchange and transfer of phospholipids. PLTP also has the ability to facilitate modulation of high density lipoprotein size and composition. It has been reported that genes encording both proteins are partially overlapping by 58 nucleotides at the parts of 3'-untranslated end sequences of their mRNAs on the complementary strand of Human genomic DNA.
In this study, we screened a bacterial artificial chromosome (BAC) library of mouse DNA by means of PCR-based analysis, and obtained a positive clone. The clone contained the entire mouse PP and PLTP genes. We determined the exon-intron organizations of the both genes by PCR amplifications using DNA of the clone as a template, and subsequent sequencing analysis of the amplified DNA fragments. The mouse PP gene spans 6.5kb and comprises 15 exons, and the mouse PLTP gene spans 18kb and comprises 16 exons. Compared with those of the human genes, the exon-intron organizations of the mouse PP and PLTP genes were well conserved. We Confirmed that 66nt sequence corresponding to the 3'-untranslated ends of mRNAs of both genes overlapped on the complementary strand of DNA.
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[Publications] Takiyama, N., Itoh, K., Shimmoto, M., Nishimoto, M., Inui, K., Sakuraba, H.: "Molecular form and subcelluar distribution of acid β-galactosidase in fibroblasts from patients with Morquio B disease and galactosialidosis."Brain Dev.. 10. 126-130 (1997)
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「研究成果報告書概要(欧文)」より
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[Publications] Shimmoto, M., Kase, R., Itoh, K., Utsumi, K., Ishii, S., Taya, C., Yonekawa, H., Sakuraba, H.: "Generation and characterizatiuon of transgenic mouse expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease."FEBS Lett.. 417. 89-91 (1997)
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「研究成果報告書概要(欧文)」より
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[Publications] Itoh, K., Shimmoto, M., Utsumi, K., Mizoguchi, N., Miharu, N., Ohama, K., Sakuraba, H.: "Protective protein/cathepsin A loss in cultured cells-derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation)."Biochem. Biophys. Res. commun.. 247. 12-17 (1998)
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「研究成果報告書概要(欧文)」より
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