2004 Fiscal Year Final Research Report Summary
Mechanism of Genetic and Phenotypic Expression in Hereditary Red Cell Membrane Disorders
| Project/Area Number |
14370311
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | Kawasaki College of Allied Health Professions |
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Principal Investigator |
YAWATA Yoshihito Kawasaki College of Allied Health Professions, Department of Care Work, Professor, 介護福祉科, 教授 (70069011)
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| Co-Investigator(Kenkyū-buntansha) |
FUJIWARA Yoshiro Suzuka Medical Science University, Department of Public Health, Professor, 保健衛生学部, 教授 (70342293)
SADAHIRA Yoshito Kawasaki Medical School, Department of Medicine (Pathology), Professor, 医学部(病理学), 教授 (30178694)
WADA Hideho Kawasaki Medical School, Department of Medicine (Hematology), Associate Professor, 医学部(血液内科学), 助教授 (70191830)
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| Project Period (FY) |
2002 – 2004
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| Keywords | Red cell membrane disorders / Hemolytic anemia / Protein 4.2 / Gene methylation / Molecular electron microscopy / Red cell membrane proteins / Control of gene expression |
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| Research Abstract |
(I) Red cell membrane disorders in the Japanese population. We investigated genetic and phenotypic characteristics in 206 patients of 107 independent families for the recent 3 years (2002-2005). The total numbers of these patients studied at my laboratory became 1265 cases of 742 traits since 1974 when I started my research at this field.
(II) As the total results, (1) hereditary spherocytosis was 669 cases of 365 families (55.2%), (2) hereditary elliptocytosis (HE) 146 cases of 74 families (12.0%), (3) protein 4.2 deficiency 41 cases of 25 families, (4) hereditary stomatocytosis (HSt) 107 cases of 66 families, (5) red cell membrane lipid abnormalities 41 cases of 27 families, (6) cases of unknown etiology 247 cases of 186 families, and (7) others, which are under extensive investigation, respectively.
(III) State of DNA methylation was studied regarding the 4 genes of red cell membrane proteins, i.e., band 3 (EPB3), protein 4.2 (ELB42), β-spectrin (SPTB), and ankyrin (ANK 1). The 5'-CG-3' sites of SPTB and ANK 1 were totally unmethylated, and those of ELB42 and EPB3 were heavily methylated. Epigenetic control of gene expression by DNA methylation was investigated in normal subjects and patients with red cell membrane disorders, and during erythroid terminal differentiation.
(IV) The abnormalities of ultrastructure of red cell membranes as phenotypes in disease states were investigated by molecular electron microscopy.
(V) A part of these results was presented at the General Assembly Meetings of the Japan Medical Association as an invited lecture (April, 2003).
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Research Products
(105 results)
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[Journal Article] DNA methylation in promoter regions of red cell membrane protein genes in normal individuals and hereditary membrane disorders.2005
Author(s)
Remus, R., Kanzaki, A., Yawata, A., Nakanishi, H., Wada, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Naumann, F., Doerfler, W., Yawata, Y.
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Journal Title
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Relations between DNA methylation and expression in erythrocyte membrane protein (band 3, protein 4.2 and β-spectrin) genes during human erythroid development and differentiation.2005
Author(s)
Remus, R., Kanzaki, A., Yawata, A., Wada, H., Nakanishi, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Doerfler, W., Yawata, Y.
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Journal Title
Description
「研究成果報告書概要(和文)」より
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[Journal Article] A novel combined anomaly of glycophorin A and band 3 : Decreased glycosylation, impaired anion transport, markedly disrupted skeletal network with decreased deformability, a Tn syndrome, and uncompensated hereditary stomatocytosis with normal band 3 gene and mutated (L75I) glycophorin A gene.2005
Author(s)
Wada H, Kanzaki A, Yawata A, Fujimura K, Senoo T, Takahashi J, Uchikawa M, Yawata Y
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Journal Title
Description
「研究成果報告書概要(和文)」より
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[Journal Article] DNA methylation in promoter regions of red cell membrane protein genes.2005
Author(s)
Remus, R., Kanzaki, A., Yawata, A., Nakanishi, H., Wada, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Naumann, F., Doerfler, W., Yawata, Y.
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Journal Title
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] 「研究成果報告書概要(欧文)」より2005
Author(s)
Remus, R., Kanzaki, A., Yawata, A., Wada, H., Nakanishi, H., Sugihara, T., Zeschnigk, M., Zuther, I., Schmitz, B., Doerfler, W., Yawata, Y.
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[Journal Article] A novel combined anomaly of glycophorin A and band 3 : Decreased glycosylation, impaired anion transport, markedly disrupted skeletal network with decreased deformability, a Tn syndrome, and uncompensated hereditary stomatocytosis with normal band 3 gene and mutated (L75I) glycophorin A gene.2005
Author(s)
Wada H, Kanzaki A, Yawata A, Fujimura K, Senoo T, Takahashi J, Uchikawa M, Yawata Y
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Journal Title
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Multiple myeloma complicated by autoimmune hemolytic anemia.2004
Author(s)
Wada, H., Yata, K., Mikami, M., Suemori, S., Nakanishi, H., Kondo, T., Tsujioka, T., Suetsugu, Y., Otsuki, T., Sadahira, Y., Yawata, Y., Sugihara, T.
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Journal Title
Int Med 43(7)
Pages: 595-598
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Monocyte/macrophage-specific marker CD163+ histiocytic sarcoma : Case report with clinical, morphologic, immunohistochemical, and molecular genetic studies.2004
Author(s)
Mikami, M., Sadahira, Y., Suetsugu, Y., Wada, H., Sugihara, T.
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Journal Title
Int J Hematol 80
Pages: 365-369
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Expression of protein gene product 9.5 (PGP9.5) /ubiquitin-C-terminal hydrolase 1(UCHL-1) in human myeloma cells.2004
Author(s)
Otsuki, T., Yata, K., Takata-Tomokuni, A., Hyodoh, F., Miura, Y., Sakaguchi, H., Hatayama, T., Hatada, S., Tsujioka, T., Sato, Y., Murakami, H., Sadahira, Y., Sugihara, T.
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Journal Title
Br J Haematol 127(3)
Pages: 292-298
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Multiple myeloma complicated by autoimmune hemolytic anemia.2004
Author(s)
Wada, H., Yata, K., Mikami, M., Suemori, S., Nakanishi, H., Kondo, T., Tsujioka, T., Suetsugu, Y., Otsuki, T., Sadahira, Y., Yawata, Y., Sugihara, T.
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Journal Title
Int Med 43
Pages: 595-598
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Expression of protein gene product 9.5 (PGP9.5) /ubiquitin-C-terminal hydrolase 1(UCHL-1) in human myeloma cells.2004
Author(s)
Otsuki, T., Yata, K., Takata-Tomokuni, A., Hyodoh, F., Miura, Y., Sakaguchi, H., Hatayama, T., Hatada, S., Tsujioka, T., Sato, Y., Murakami, H., Sadahira, Y., Sugihara, T.
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Journal Title
Br J Haematol 127
Pages: 292-298
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Interleukin 10 abolishes the growth inhibitory effects of alltrans retinoic acid on human myeloma cells.2002
Author(s)
Otsuki T, Yata K, Sakaguchi H, Kurebayashi J, Matsuo Y, Uno M, Fujii T, Eda S, Isozaki Y, Yawata Y, Yamada O, Wada H, Sugihara T, Ueki A
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Journal Title
Br J Haematol 116(4)
Pages: 787-795
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Diagnostic significance of serum soluble transferrin receptors in various anemic diseases : The first multi-institutional joint study in Japan.2002
Author(s)
Matsuda A, Bessho M, Mori S, Takeuchi T, Abe T, Yawata Y, Mori H, Omine M, Nakamura Y, Furusawa S, Maeda T, Haginosita S, Hirasawa Y, Kinugasa E, Akizawa T, Kawakami N, Nagata A, Hirashima K
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Journal Title
Haematologia 32(9)
Pages: 225-238
Description
「研究成果報告書概要(和文)」より
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[Journal Article] Interleukin 10 abolishes the growth inhibitory effects of alltrans retinoic acid on human myeloma cells.2002
Author(s)
Otsuki T, Yata K, Sakaguchi H, Kurebayashi J, Matsuo Y, Uno M, Fujii T, Eda S, Isozaki Y, Yawata Y, Yamada O, Wada H, Sugihara T, Ueki A
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Journal Title
Br J Haematol 116
Pages: 787-795
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Diagnostic significance of serum soluble transferrin receptors in various anemic diseases : The first multi-institutional joint study in Japan.2002
Author(s)
Matsuda A, Bessho M, Mori S, Takeuchi T, Abe T, Yawata Y, Mori H, Omine M, Nakamura Y, Furusawa S, Maeda T, Haginosita S, Hirasawa Y, Kinugasa E, Akizawa T, Kawakami N, Nagata A, Hirashima K
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Journal Title
Haematologia 32
Pages: 225-238
Description
「研究成果報告書概要(欧文)」より
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