Planting alfalfa and cloning the Huntington's disease gene
Article Abstract:
The history of research to identify the genetic mutation underlying Huntington's disease (HD) was traced. HD is a dominant genetic disorder with usually adult-onset symptoms of progressive mental disturbances which start with mild uncontrolled movements which eventually degenerates into a vegetative state. It has been known for many years that the selective death of neurons is responsible for HD, but its biochemical basis was unknown. The identification by a research team in 1993 of the IT15 gene, which carries a CAG trinucleotide tandem repeat, as the HD gene represents a major breakthrough in the search for therapies for HD.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1993
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Article Abstract:
The successful identification of the genetic mutation which causes the neurodegenerative Huntington's disease (HD) is reported. The locus of the mutation is the gene IT15, located on chromosome 4p16.3 and containing a long CAG trinucleotide repeat that is expanded and unstable in all HD families examined. The CAG repeat appears to be located within the coding sequence of a 348-kd protein which is widely expressed but which is unrelated to any known gene. HD is thus caused by an unstable DNA segment acting as a new 4p16.3 gene and producing a dominant phenotype.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1993
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Trinucleotide repeats that expand in human disease form hairpin structures in vitro
Article Abstract:
An examination of the repeating units of disease genes showed that they are capable of forming hairpins of similar structure and stability. Analysis of the structure of sequences in the CAG and CTG strands indicated that they do not exist in linear form, but in a hydrogen bonding state that is consistent with the hairpin structure. Common threshold stability was identified at -50 kcal per hairpin and was observed to be dependent on the sequence and length of the genes.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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