Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease
Article Abstract:
An investigation was conducted to isolate the gene responsible for Huntington's disease (HD). A direct cDNA selection strategy was used to narrow down the region of interest, resulting in the identification of seven clones within this region. One of the clones detected an insertion of 331 base pairs in two HD patients. Sequence analysis showed that the insertion element is a member of the Alu family and lies in close proximity to the alpha-adducin gene and another gene encoding a 12-kb transcript. Since the Alu insertion is not likely to affect the expression of the alpha-adducin gene, the second gene is a strong candidate forthe HD gene.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1993
User Contributions:
Comment about this article or add new information about this topic:
Michael Smith (1932-2000)
Article Abstract:
The life and career of Michael Smith, gene scientist, is profiled. Smith won the Nobel prize in Chemistry in 1993 for work on the development of site-specific mutagenesis.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Identification and isolation of a membrane protein necessary for leukotriene production. Identification of receptors for neuromedin U and its role in feeding
- Abstracts: Inhibition of mutant troponin C activity by an intra-domain disulfide bond. Risky immortalization by telemerase
- Abstracts: A glycolipid of hypervirulent tuberculosis strains that inhibits the innate immune response. A small-molecule nitroimidazopyran drug candidate for the treatment of tuberculosis
- Abstracts: Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene. One-hit neuronal death
- Abstracts: Age of a millisecond binary pulsar. Older than they look. A large age for the pulsar B1757-24 from an upper limit on its proper motion