2002 Fiscal Year Annual Research Report

遺伝性小脳失調,末梢神経障害,低アルブミン血症の原因遺伝子の同定

Research Project

Project/Area Number	13670821
Research Institution	Sapporo Medical University
Principal Investigator	舘延忠札幌医科大学, 保健医療学部, 助教授 (80136944)
Co-Investigator(Kenkyū-buntansha)	小塚直樹札幌医科大学, 保健医療学部, 助教授 (90225459) 山下利春札幌医科大学, 医学部, 助教授 (50167706)
Keywords	EOCA-HA / AOA / Aprataxin gene
Research Abstract	本邦のみから報告されてきた常染色体劣性遺伝形式を呈するEarly onset cerebellar ataxia with hypoalbuminemia(EOCA-HA)とポルトガルに存在する常染色体劣性遺伝形式を呈するCerebellar ataxia with ocular apraxia(AOA)とは、alleleicな疾患で染色体9p13.3領域に存在する原因遺伝子をaprataxinと銘々した(Moreira et al. Nature Genet 2001;29:189-193)。ヒトaprataxin遺伝子(FLJ20157)は約10kbで、cDNAは2.2kbで7個のエクソンから構成され342個のアミノ酸からなるlong transcriptと、エクソン3がalternative splicingを受け168個のアミノ酸からなるshort transcriptがある。long transcriptはPNKP, histidine traid(HIT), zinc-fingerの3個のdomainから、short transcripは・HIT, zinc-fingerの2個のdomainからなる。aprataxin遺伝子変異は689insTのホモ接合が多く、次に689insTと617C-T、または840delTとのcompound heterozygoteであった(Date et al. Nature Genet 2001;29;184-188)。我々の5家系全て689insTのホモ接合であり(Moreira et al. Nature Genet 2001;29:189-193)。Aprataxin遺伝子の変異は全てHITdomainであり、HITdomainがaprataxinの機能の上で重要であることが推定された。辻らの報告(Date et al. Nature Genet 2001;29:184-188)と併せると、日本人は689insTのホモ接合の保因者がfounderで、この疾患は日本人に特有であることが推定された。

Research Products
(7 results)

All Other

All Publications (7 results)

[Publications] Tachi N, Kozuka N, Cbiba S et al.: "A dopuble mutation in a patient with X-linked myotubular myoapthy"Pediatr Neurol. 24. 297-299 (2001)
[Publications] Tachi N, Kozuka N, Chiba S et al.: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domein of dystrophin"Pediatr Neurol. 24. 373-378 (2001)
[Publications] Tachi N, Kozuka N, Chiba S et al.: "Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatr Neurol. 24. 33-35 (2001)
[Publications] Moreira MC, Barbot C, Tachi N et al.: "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger Protein aprataxin"Nature Genet. 29. 189-193 (2001)
[Publications] Moreira MC, Barbot C, Tachi N et al.: "Homozygosity mapping of Portuguese and Japanese forms of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)
[Publications] Tachi N, Kozuka N, Ohya K et al.: "Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation"Eur Neurol.
[Publications] 舘延忠: "小児科学第2版"多発性神経炎. 1526-1529 (2002)

2002 Fiscal Year Annual Research Report

遺伝性小脳失調,末梢神経障害,低アルブミン血症の原因遺伝子の同定

Principal Investigator

舘 延忠 札幌医科大学, 保健医療学部, 助教授 (80136944)

Research Products

[Publications] Tachi N, Kozuka N, Cbiba S et al.: "A dopuble mutation in a patient with X-linked myotubular myoapthy"Pediatr Neurol. 24. 297-299 (2001)

[Publications] Tachi N, Kozuka N, Chiba S et al.: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domein of dystrophin"Pediatr Neurol. 24. 373-378 (2001)

[Publications] Tachi N, Kozuka N, Chiba S et al.: "Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatr Neurol. 24. 33-35 (2001)

[Publications] Moreira MC, Barbot C, Tachi N et al.: "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger Protein aprataxin"Nature Genet. 29. 189-193 (2001)

[Publications] Moreira MC, Barbot C, Tachi N et al.: "Homozygosity mapping of Portuguese and Japanese forms of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)

[Publications] Tachi N, Kozuka N, Ohya K et al.: "Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation"Eur Neurol.

[Publications] 舘 延忠: "小児科学 第2版"多発性神経炎. 1526-1529 (2002)

舘延忠札幌医科大学, 保健医療学部, 助教授 (80136944)

[Publications] 舘延忠: "小児科学第2版"多発性神経炎. 1526-1529 (2002)