Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.
作者信息
Stevanin G, Cancel G, Didierjean O, Dürr A, Abbas N, Cassa E, Feingold J, Agid Y, Brice A
出版信息
Am J Hum Genet. 1995 Nov;57(5):1247-50.
Abstract
摘要
相似文献
1
Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.马查多-约瑟夫病/脊髓小脑共济失调3型基因座的连锁不平衡：法国和葡萄牙裔巴西家庭中共同奠基者效应的证据以及第二个葡萄牙亚速尔群岛祖先突变。
Am J Hum Genet. 1995 Nov;57(5):1247-50.
2
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.马查多-约瑟夫病定位于与3型脊髓小脑共济失调基因座相同的14号染色体区域。
J Med Genet. 1995 Jan;32(1):25-31. doi: 10.1136/jmg.32.1.25.
3
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.马查多-约瑟夫病突变的祖先起源：一项全球单倍型研究。
Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20.
4
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).马查多-约瑟夫病在基因上与奥尔金显性共济失调（脊髓小脑共济失调2型）不同。
Genomics. 1993 Sep;17(3):556-9. doi: 10.1006/geno.1993.1371.
5
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.马查多-约瑟夫病全球传播突变事件的亚洲起源。
Arch Neurol. 2007 Oct;64(10):1502-8. doi: 10.1001/archneur.64.10.1502.
6
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.患有3型脊髓小脑共济失调（SCA）的美国家庭中的突变：SCA3与马查多-约瑟夫病等位。
Neurology. 1996 Jan;46(1):208-13. doi: 10.1212/wnl.46.1.208.
7
The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
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8
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
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Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.马查多-约瑟夫病不是脊髓小脑共济失调2型位点的一个等位基因。
Hum Genet. 1994 Mar;93(3):335-8. doi: 10.1007/BF00212034.
10
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.马查多-约瑟夫病基因定位于14号染色体长臂上与脊髓小脑共济失调3型基因相同的3厘摩区间。
Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010.
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High relative frequency of SCA1 in Poland reflecting a potential founder effect.脊髓小脑共济失调1型（SCA1）在波兰的相对高频率反映了一种潜在的奠基者效应。
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Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease protein ataxin-3 are regulated by ubiquitination at lysine 117.去泛素化酶和多聚谷氨酰胺疾病蛋白 ataxin-3 的活性和细胞功能受赖氨酸 117 上的泛素化调节。
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Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3.泛素化直接增强去泛素化酶ataxin-3的活性。
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Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease.突变型ataxin-3的等位基因特异性RNA沉默在Machado-Joseph病大鼠模型中介导神经保护作用。
PLoS One. 2008 Oct 8;3(10):e3341. doi: 10.1371/journal.pone.0003341.
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SCA3: neurological features, pathogenesis and animal models.脊髓小脑共济失调3型：神经学特征、发病机制及动物模型
Cerebellum. 2008;7(2):125-37. doi: 10.1007/s12311-008-0013-4.
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Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.常染色体显性遗传性小脑共济失调：SCA2是印度东部最常见的突变类型。
J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):448-52. doi: 10.1136/jnnp.2002.004895.
10
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.马查多-约瑟夫病突变的祖先起源：一项全球单倍型研究。
Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20.
本文引用的文献
1
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.马查多-约瑟夫病基因定位于14号染色体长臂上与脊髓小脑共济失调3型基因相同的3厘摩区间。
Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010.
2
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Machado-Joseph病日本和白种人受试者中，MJD1基因CAG重复序列的代际不稳定性及侧翼标记保守单倍型的证据。
Hum Mol Genet. 1995 Jul;4(7):1137-46. doi: 10.1093/hmg/4.7.1137.
3
Clinical features and classification of inherited ataxias.遗传性共济失调的临床特征与分类
Adv Neurol. 1993;61:1-14.
4
The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
5
Population studies of the fragile X: a molecular approach.脆性X染色体的群体研究：一种分子方法。
J Med Genet. 1993 Jun;30(6):454-9. doi: 10.1136/jmg.30.6.454.
6
7
A complex mutable polymorphism located within the fragile X gene.位于脆性X基因内的一种复杂的可变多态性。
Nat Genet. 1993 Nov;5(3):248-53. doi: 10.1038/ng1193-248.
8
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.散发性亨廷顿舞蹈病中（CAG）n重复序列的从头扩增
Nat Genet. 1993 Oct;5(2):168-73. doi: 10.1038/ng1093-168.
9
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.脊髓小脑共济失调1型（SCA1）基因两侧有两个紧密连锁的高度多态性微卫星位点。
Hum Mol Genet. 1993 Sep;2(9):1383-7. doi: 10.1093/hmg/2.9.1383.
10
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.对意大利亨廷顿舞蹈病家族中三核苷酸重复序列扩增的分析。
Hum Mol Genet. 1994 Jan;3(1):93-8. doi: 10.1093/hmg/3.1.93.
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