HUNTINGTONS-DISEASE

被引：70

作者：

GUSELLA, JF

MACDONALD, ME

机构：

[1] Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown

来源：

SEMINARS IN CELL BIOLOGY | 1995年 / 6卷 / 01期

关键词：

HUNTINGTONS DISEASE; NEURODEGENERATION; TRINUCLEOTIDE REPEAT; AGE AT ONSET; POLYGLUTAMINE;

D O I：

10.1016/1043-4682(95)90011-X

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat at the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife onset. The biochemical basis for the specific neuronal loss of HD remains uncertain, but the genetic lesion probably acts via its consequent polyglutamine segment in the protein product, huntingtin. This review will describe the basic parameters of the HD repeat's behavior and the Knowledge that has accumulated concerning its potential mechanisms of action.

引用

页码：21 / 28

页数：8

共 47 条

[1] STRUCTURE AND EXPRESSION OF THE HUNTINGTONS-DISEASE GENE - EVIDENCE AGAINST SIMPLE INACTIVATION DUE TO AN EXPANDED CAG REPEAT [J].

AMBROSE, CM ;

DUYAO, MP ;

BARNES, G ;

BATES, GP ;

LIN, CS ;

SRINIDHI, J ;

BAXENDALE, S ;

HUMMERICH, H ;

LEHRACH, H ;

ALTHERR, M ;

WASMUTH, J ;

BUCKLER, A ;

CHURCH, D ;

HOUSMAN, D ;

BERKS, M ;

MICKLEM, G ;

DURBIN, R ;

DODGE, A ;

READ, A ;

GUSELLA, J ;

MACDONALD, ME .

SOMATIC CELL AND MOLECULAR GENETICS, 1994, 20 (01) :27-38

[2] A CCG REPEAT POLYMORPHISM ADJACENT TO THE CAG REPEAT IN THE HUNTINGTON DISEASE GENE - IMPLICATIONS FOR DIAGNOSTIC-ACCURACY AND PREDICTIVE TESTING [J].

ANDREW, SE ;

GOLDBERG, YP ;

THEILMANN, J ;

ZEISLER, J ;

HAYDEN, MR .

HUMAN MOLECULAR GENETICS, 1994, 3 (01) :65-67

[3] THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE [J].

ANDREW, SE ;

GOLDBERG, YP ;

KREMER, B ;

TELENIUS, H ;

THEILMANN, J ;

ADAM, S ;

STARR, E ;

SQUITIERI, F ;

LIN, BY ;

KALCHMAN, MA ;

GRAHAM, RK ;

HAYDEN, MR .

NATURE GENETICS, 1993, 4 (04) :398-403

[4]

ANDREW SE, 1994, AM J HUM GENET, V54, P852

[5] A STUDY OF THE HUNTINGTONS-DISEASE ASSOCIATED TRINUCLEOTIDE REPEAT IN THE SCOTTISH POPULATION [J].

BARRON, LH ;

WARNER, JP ;

PORTEOUS, M ;

HOLLOWAY, S ;

SIMPSON, S ;

DAVIDSON, R ;

BROCK, DJH .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (12) :1003-1007

[6] SEX RELATED FACTOR IN INHERITANCE OF HUNTINGTONS-CHOREA [J].

BIRD, ED ;

CARO, AJ ;

PILLING, JB .

ANNALS OF HUMAN GENETICS, 1974, 37 (JAN) :255-260

[7] MUTATION SIZE AND AGE AT ONSET IN HUNTINGTONS-DISEASE [J].

CRAUFURD, D ;

DODGE, A .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (12) :1008-1011

[8] DYNAMIC MUTATION IN DUTCH HUNTINGTONS-DISEASE PATIENTS - INCREASED PATERNAL REPEAT INSTABILITY EXTENDING TO WITHIN THE NORMAL SIZE RANGE [J].

DEROOIJ, KE ;

VEGTERVANDERVLIS, M ;

GANS, PAMD ;

SKRAASTAD, MI ;

BELFROID, RDM ;

ROOS, RAC ;

BAKKER, E ;

VANOMMEN, GJB ;

DENDUNNEN, JT ;

LOSEKOOT, M .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (12) :996-1002

[9] TRINUCLEOTIDE REPEAT LENGTH INSTABILITY AND AGE-OF-ONSET IN HUNTINGTONS-DISEASE [J].

DUYAO, M ;

AMBROSE, C ;

MYERS, R ;

NOVELLETTO, A ;

PERSICHETTI, F ;

FRONTALI, M ;

FOLSTEIN, S ;

ROSS, C ;

FRANZ, M ;

ABBOTT, M ;

GRAY, J ;

CONNEALLY, P ;

YOUNG, A ;

PENNEY, J ;

HOLLINGSWORTH, Z ;

SHOULSON, I ;

LAZZARINI, A ;

FALEK, A ;

KOROSHETZ, W ;

SAX, D ;

BIRD, E ;

VONSATTEL, J ;

BONILLA, E ;

ALVIR, J ;

CONDE, JB ;

CHA, JH ;

DURE, L ;

GOMEZ, F ;

RAMOS, M ;

SANCHEZRAMOS, J ;

SNODGRASS, S ;

DEYOUNG, M ;

WEXLER, N ;

MOSCOWITZ, C ;

PENCHASZADEH, G ;

MACFARLANE, H ;

ANDERSON, M ;

JENKINS, B ;

SRINIDHI, J ;

BARNES, G ;

GUSELLA, J ;

MACDONALD, M .

NATURE GENETICS, 1993, 4 (04) :387-392

[10]

FOLSTEIN SE, 1989, HUNTINGTONS DISEASE

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