1992 Fiscal Year Annual Research Report

細胞骨格から見た赤血球膜異常症の病因・病態に関する分子生物学的研究

Research Project

Project/Area Number	04671540
Research Institution	Kawasaki Medical School
Principal Investigator	八幡義人川崎医科大学, 医学部, 教授 (70069011)
Co-Investigator(Kenkyū-buntansha)	阿多雄之川崎医科大学, 医学部, 助手 (50184180) 和田秀穂川崎医科大学, 医学部, 助手 (70191830) 杉原尚川崎医科大学, 医学部, 講師 (60140505) 神崎暁郎川崎医科大学, 医学部, 講師 (40148698) 山田治川崎医科大学, 医学部, 助教授 (50104790)
Keywords	赤血球膜異常症 / 細胞骨格 / スペクトリン / Band 4.2
Research Abstract	細胞骨格から見た赤血球膜異常症の病因・病態に関して,下記の分子生物学的研究を行った。 (1)β-Spectrin異常症: 本症患は世界で8家系の報告があるが,このうち2家系が当教室で発見されている。この両者について遺伝子解析と病態解明を行った。 (a)β-Spectrin Tokyo(Spβ^<220/216>): 本症は,β-spectrin geneのcodon 2059においてGCCAGC→GCAGCTのごとく,exon Xにおける1塩基欠失を有し,その結果,β-spectrin分子の短縮(truncation)をみるものであることが判明し,論文として公表した(Blood 80:2115-2127,1992)。 (b)β-Spectrin Yamagata(Spβ^<220/214>): 本症は,これもβ-spectrin geneのC末端における1塩基置換(CCACG/gtgggc→CCACG/gtgagc)によるexon Xの343塩基の欠失をみることが判明し,現在,論文投稿中(Brit.J.Haematol.)である。 (2)Band4.2欠損症: 本症は,わが国にほぼ特有な疾患として注目されているが,その病因としての遺伝子異常(codon 142におけるAla→Thrへの点変異)を発見し,論文として公表した(Blood 79:1846-1854,1992)。またその病態解明を行い,その成果を招待論文として印刷中(Amer.J.Med.Sci.,1993)である。また,本疾患の異常所見を電顕・生化学的に検討し,印刷中(J.Clin.Invest.)である。さらに本症に関する全貌をinvited reviewとして,Biochim.Biophys.Acta Protein Structure and Molecular Enzymology Reviewsにおいて印刷中である。

Research Products

(24 results)

All Other

All Publications (24 results)

[Publications] Yawata,Y.: "Invited review: Band 4.2 abnormalities in human red cells." American Journal of Medical Sciences. (1993)
[Publications] Kanzaki,A.,et al.: "A deletional frameshift mutation of the β-spectrin gene associated with elliptocytosis in Spectrin Tokyo(β^<220/216>)." Blood. 80. 2115-2127 (1992)
[Publications] Boubassira Eric,E.et al.: "An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia(Protein 4.2 NIPPON)." Blood. 79. 1846-1854 (1992)
[Publications] Kanzaki,A.,et al.: "Hereditary stomatocytosis: phenotypical expression of sodium transport and band 7 peptides in 44 cases." British Journal of Haematology. 82. 133-141 (1992)
[Publications] Yawata,Y.,et al.: "A novel β-spectrin anomaly(Spectrin Yamagata,β-^<220/210>)with impaired dimer association,decreased 17 kDa of β-I domain and elliptocytosis." British Journal of Haematology (Supplement). 82. 35- (1992)
[Publications] Yawata,Y.,et al.: "A new variant of cytochrome b_5 reductase deficiency (b_5^RKurashiki)in red cells,platelets,lymphocytes and cultured fibroblasts with congenital methemoglobinemia,mental and neurological retardation and skeletal anomalies." American Journal of Hematology. 40. 299-305 (1992)
[Publications] Marechal,J.,et al.: "Spectrin Yamagata-Le Puy,a β-chain variant resulting from skipping of exon X in a Japanese family with hereditary elliptocytosis." British Journal of Haematology. (1993)
[Publications] Inoue,T.,et al.: "Electron microscopic and physicobiochemical studies on disorganization of cytoskeletal network and integral protein(band 3)in red cells of band 4.2 deficiency a mutation(142 GCT→ACT)of the Nippon type." Journal of Clinical Investigation. (1993)
[Publications] Yawata,Y.: "Invited review: Red cell membrane protein 4.2;Normal and abnormal." Biochimica Biophysica Acta Protein Structure and Molecular Enzymology Reviews.(1993)
[Publications] Yawata,Y.,et al.: "Expression and development of membrane protein band 4.2 in human erythroid precursors studied by two phase liquid culture system." British Journal of Haematology(Supplement). 82. 36- (1992)
[Publications] Yawata,Y.: "Red cell membrane disorders in Japan: Special reference to band 4.2 abnormalities." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 226- (1992)
[Publications] Kanzaki,A.,et al.: "Hereditary elliptocytosis with deletional frameshift mutation(2059 GCC→GCA)of the β-spectrin gene in Spectrin Tokyo(β^<220/216>)." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 379- (1992)
[Publications] Inoue,T.,et al.: "Partial deficiency of membrane protein band 4.1 associated with decreased glycophorin C in a trait of hereditary elliptocytosis." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 379- (1992)
[Publications] Yawata,Y.,et al.: "Phenotypic expression of membrane protein band 4.2 abnormalities in human red cells." British Journal of Haematology (Supplement). 82. 35- (1992)
[Publications] Yawata,Y.,et al.: "Red Cell membrane protein band 4.2 abnormalities with markedly decreased red cell deformability." Proceedings of 8th International Congress of Biorheology(Supplement). 29. 3- (1992)
[Publications] Yawata,Y.: "Diagnostic procedures for suspected hemolytic anemia." Asian Medical Journal. 36. 1-11 (1993)
[Publications] 八幡義人: "赤血球膜構造と病態" 日本バイオレオロジー学会誌. 6. 46-64 (1992)
[Publications] 伊従秀章,他: "β-Spectrin 異常を呈する遺伝性楕円赤血球症の一家系" 臨床血液. 33. 167-172 (1992)
[Publications] 八幡義人,他: "MDSの赤血球膜異常" 医学のあゆみ. 160. 287-290 (1992)
[Publications] 八幡義人,他: "Annual Review 血液 1992「細胞骨格とその分子病態」" 中外医学社, 29(19-47) (1992)
[Publications] 八幡義人,他: "Annual Review 血液 1993「赤血球膜タンパクband 4.2異常症」" 中外医学社, 30(19-48) (1993)
[Publications] 八幡義人: "小児貧血の臨床「赤血球膜の異常と溶血」" 金原出版, 16(145-160) (1992)
[Publications] 八幡義人: "最新内科学大系「赤血球膜の異常」" 中山書店, 35(235-269) (1992)
[Publications] 八幡義人: "最新内科学大系「細小血管異常性溶血性貧血」" 中山書店, 9(313-321) (1992)

1992 Fiscal Year Annual Research Report

細胞骨格から見た赤血球膜異常症の病因・病態に関する分子生物学的研究

Principal Investigator

八幡 義人 川崎医科大学, 医学部, 教授 (70069011)

Research Products

[Publications] Yawata,Y.: "Invited review: Band 4.2 abnormalities in human red cells." American Journal of Medical Sciences. (1993)

[Publications] Kanzaki,A.,et al.: "A deletional frameshift mutation of the β-spectrin gene associated with elliptocytosis in Spectrin Tokyo(β^<220/216>)." Blood. 80. 2115-2127 (1992)

[Publications] Boubassira Eric,E.et al.: "An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia(Protein 4.2 NIPPON)." Blood. 79. 1846-1854 (1992)

[Publications] Kanzaki,A.,et al.: "Hereditary stomatocytosis: phenotypical expression of sodium transport and band 7 peptides in 44 cases." British Journal of Haematology. 82. 133-141 (1992)

[Publications] Yawata,Y.,et al.: "A novel β-spectrin anomaly(Spectrin Yamagata,β-^<220/210>)with impaired dimer association,decreased 17 kDa of β-I domain and elliptocytosis." British Journal of Haematology (Supplement). 82. 35- (1992)

[Publications] Marechal,J.,et al.: "Spectrin Yamagata-Le Puy,a β-chain variant resulting from skipping of exon X in a Japanese family with hereditary elliptocytosis." British Journal of Haematology. (1993)

[Publications] Inoue,T.,et al.: "Electron microscopic and physicobiochemical studies on disorganization of cytoskeletal network and integral protein(band 3)in red cells of band 4.2 deficiency a mutation(142 GCT→ACT)of the Nippon type." Journal of Clinical Investigation. (1993)

[Publications] Yawata,Y.: "Invited review: Red cell membrane protein 4.2;Normal and abnormal." Biochimica Biophysica Acta Protein Structure and Molecular Enzymology Reviews.(1993)

[Publications] Yawata,Y.,et al.: "Expression and development of membrane protein band 4.2 in human erythroid precursors studied by two phase liquid culture system." British Journal of Haematology(Supplement). 82. 36- (1992)

[Publications] Yawata,Y.: "Red cell membrane disorders in Japan: Special reference to band 4.2 abnormalities." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 226- (1992)

[Publications] Kanzaki,A.,et al.: "Hereditary elliptocytosis with deletional frameshift mutation(2059 GCC→GCA)of the β-spectrin gene in Spectrin Tokyo(β^<220/216>)." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 379- (1992)

[Publications] Inoue,T.,et al.: "Partial deficiency of membrane protein band 4.1 associated with decreased glycophorin C in a trait of hereditary elliptocytosis." Proceedings of the First IUBMB Conference on Biochemistry of Diseases. 379- (1992)

[Publications] Yawata,Y.,et al.: "Phenotypic expression of membrane protein band 4.2 abnormalities in human red cells." British Journal of Haematology (Supplement). 82. 35- (1992)

[Publications] Yawata,Y.,et al.: "Red Cell membrane protein band 4.2 abnormalities with markedly decreased red cell deformability." Proceedings of 8th International Congress of Biorheology(Supplement). 29. 3- (1992)

[Publications] Yawata,Y.: "Diagnostic procedures for suspected hemolytic anemia." Asian Medical Journal. 36. 1-11 (1993)

[Publications] 八幡 義人: "赤血球膜構造と病態" 日本バイオレオロジー学会誌. 6. 46-64 (1992)

[Publications] 伊従 秀章,他: "β-Spectrin 異常を呈する遺伝性楕円赤血球症の一家系" 臨床血液. 33. 167-172 (1992)

[Publications] 八幡 義人,他: "MDSの赤血球膜異常" 医学のあゆみ. 160. 287-290 (1992)

[Publications] 八幡 義人,他: "Annual Review 血液 1992「細胞骨格とその分子病態」" 中外医学社, 29(19-47) (1992)

[Publications] 八幡 義人,他: "Annual Review 血液 1993「赤血球膜タンパクband 4.2異常症」" 中外医学社, 30(19-48) (1993)

[Publications] 八幡 義人: "小児貧血の臨床「赤血球膜の異常と溶血」" 金原出版, 16(145-160) (1992)

[Publications] 八幡 義人: "最新内科学大系「赤血球膜の異常」" 中山書店, 35(235-269) (1992)

[Publications] 八幡 義人: "最新 内科学大系「細小血管異常性溶血性貧血」" 中山書店, 9(313-321) (1992)

八幡義人川崎医科大学, 医学部, 教授 (70069011)

[Publications] 八幡義人: "赤血球膜構造と病態" 日本バイオレオロジー学会誌. 6. 46-64 (1992)

[Publications] 伊従秀章,他: "β-Spectrin 異常を呈する遺伝性楕円赤血球症の一家系" 臨床血液. 33. 167-172 (1992)

[Publications] 八幡義人,他: "MDSの赤血球膜異常" 医学のあゆみ. 160. 287-290 (1992)

[Publications] 八幡義人,他: "Annual Review 血液 1992「細胞骨格とその分子病態」" 中外医学社, 29(19-47) (1992)

[Publications] 八幡義人,他: "Annual Review 血液 1993「赤血球膜タンパクband 4.2異常症」" 中外医学社, 30(19-48) (1993)

[Publications] 八幡義人: "小児貧血の臨床「赤血球膜の異常と溶血」" 金原出版, 16(145-160) (1992)

[Publications] 八幡義人: "最新内科学大系「赤血球膜の異常」" 中山書店, 35(235-269) (1992)

[Publications] 八幡義人: "最新内科学大系「細小血管異常性溶血性貧血」" 中山書店, 9(313-321) (1992)