A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Cell

Volumn 72, Issue 6, 1993, Pages 971-983

  MacDonald, Marcy E ^a   Ambrose, Christine M ^a   Duyao, Mabel P ^a   Myers, Richard H ^b   Lin, Carol ^j   Srinidhi, Lakshmi ^a   Barnes, Glenn ^a   Taylor, Sherryl A ^a   James, Marianne ^a   Groot, Nicolet ^a   MacFarlane, Heather ^a   Jenkins, Barbara ^a   Anderson, Mary Anne ^a   Wexler, Nancy S ^c   Gusella, James F ^a   Bates, Gillian P ^d   Baxendale, Sarah ^d   Hummerich, Holger ^d   Kirby, Susan ^d   North, Mike ^d   Youngman, Sandra ^d   Mott, Richard ^d   Zehetner, Gunther ^d   Sedlacek, Zdenek ^d   Poustka, Annemarie ^d   Frischauf, Anna Maria ^d   Lehrach, Hans ^d   Buckler, Alan J ^e   Church, Deanna ^e   Doucette Stamm, Lynn ^e   O'Donovan, Michael C ^e   Riba Ramirez, Laura ^e   Shah, Manish ^e   Stanton, Vincent P ^e   Strobel, Scott A ^f   Draths, Karen M ^f   Wales, Jennifer L ^f   Dervan, Peter ^f   Housman, David E ^e   Altherr, Michael ^g   Shiang, Rita ^g   Thompson, Leslie ^g   Fielder, Thomas ^g   Wasmuth, John J ^g   Tagle, Danilo ^h   Valdes, John ^h   Elmer, Lawrence ^h   Allard, Marc ^h   Castilla, Lucio ^h   Swaroop, Manju ^h   Blanchard, Kris ^h   Collins, Francis S ^h   Snell, Russell ⁱ   Holloway, Tracey ⁱ   Gillespie, Kathleen ⁱ   Datson, Nicole ⁱ   Shaw, Duncan ⁱ   Harper, Peter S ⁱ   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Hereditary Disease Foundation   (United States)

^d IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^e MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^f CALIFORNIA INSTITUTE OF TECHNOLOGY   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF MICHIGAN   (United States)

ⁱ CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^j NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ARTICLE; CONTROLLED STUDY; EXON; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; CLONING, MOLECULAR; EXONS; GENE EXPRESSION; GENES, STRUCTURAL; HUMAN; HUNTINGTON DISEASE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGODEOXYRIBONUCLEOTIDES; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM (GENETICS); REPETITIVE SEQUENCES, NUCLEIC ACID; RESTRICTION MAPPING; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027480960     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(93)90585-E     Document Type: Article

References (64)

1. Increased recombination adjacent to the Huntington's disease-linked D4S10 marker
2. Radiation hybrid map spanning the Huntington disease gene region of chromosome 4
3. Basic local alignment search tool
4. A novel G protein-coupled receptor kinase cloned from 4p16.3
5. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
6. Ethnic distribution of myotonic dystrophy gene
7. Cloning of the essential myotonic dystrophy region and mapping of the putative defect
8. A YAC telomere clone spanning a possible location of the Huntington's disease gene
9. Defined physical limits of the Huntington disease gene candidate region
10. Characterization of a yeast artificial chromosome contig spanning the Huntington disease gene candidate region
11. The direct screening of cosmid libraries with yeast artificial chromosomes
12. Moderate instability of the trinucleotide repeat in spino-bulbar muscular atrophy
13. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
14. Reverse mutation in myotonic dystrophy
15. Physical maps of 4p16.3, the area expected to contain the Huntington's disease mutation
16. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing
17. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
18. Huntington disease: no evidence for locus heterogeneity
19. A point mutation in the FMR-1 gene associated with fragile X mental retardation
20. Generation and characterization of Goss-Harris hybrids of human chromosome 4
21. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
22. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
23. Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease
24. Huntington's disease
25. Precise localization of the human β-globin gene complex on chromosome 11
26. A polymorphic DNA marker genetically linked to Huntington's disease
27. DNA markers for nervous system diseases
28. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker
29. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
30. Unstable DNA sequence in myotonic dystrophy
31. The epidemiology of Huntington's disease
32. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
33. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
34. Hybridisation fingerprinting in genome mapping and sequencing
35. New DNA markers in the Huntington's disease gene candidate region
36. Clustering of multi-allele DNA markers near the Huntington's disease gene
37. Recombination events suggest possible locations for the Huntington's disease gene
38. Complex patterns of linkage disequilibrium in the Huntington disease region
39. The Huntington's disease candidate region exhibits many different haplotypes
40. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene
41. Huntington's disease: pathogenesis and management
42. The genomic structure of the human skeletal muscle sodium channel gene
43. Juvenile Huntington's chorea
44. Homozygote for Huntington's disease
45. Construction arraying and high density screening of large insert libraries of human chromosomes X and 21 their potential use as reference libraries
46. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes
47. Absence of expression of the FMR-1 gene in fragile X syndrome
48. Construction of a Notl linking library and isolation of new markers close to the Huntington's disease gene
49. Recombination of 4p16 DNA markers in an unusual family with Huntington disease
50. Fragile X syndrome: evidence of founder chromosomes
51. DNA sequencing with chain-termination inhibitors
52. Linkage disequilibrium in Huntington's disease: an improved localization for the gene
53. A recombination event that redefines the Huntington disease region
54. Instability versus predictability: the molecular diagnosis of myotonic dystrophy
55. Cloning of the α-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification
56. Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene
57. A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4
58. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
59. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
60. Homozygotes for Huntington's disease
61. Mapping of cosmid clones in the Huntington's disease region of chromosome 4
62. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p
63. Fragile-X syndrome: unique genetics of the heritable unstable element