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• W2161883297 abstract "After linkage of the Huntington disease (HD) gene was found in 1983, it took ten years of work by an international group to identify the mutation in the gene interesting transcript 15 (IT15) that causes the disease (1, 2). HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor, psychiatric, and cognitive dysfunction. It is invariably terminal. HD symptoms can begin as early as 2 years or as late as 90 years, although the average age of onset is in the late 30s and early 40s. If a child inherits the gene from his or her father, a phenomenon called anticipation frequently occurs, whereby the child’s age of onset is lower than the father’s (3). The IT15 gene is composed of 67 exons and encodes a protein of 3,144 amino acids, called huntingtin (2). Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. In unaffected individuals, there are 10‐34 CAG repeats. In those affected by HD, there are more than 40 repeats. In those with 35‐39 repeats, the disease is variably penetrant (3‐5). The age of onset of the disease varies inversely with the number of CAG repeats. Individuals with juvenile onset usually have over 55 repeats, and they usually inherit the gene from their father. Men occasionally have expanded repeats in their sperm (6). The expansion is thought to occur via slippage during the DNA replication process. Wild-type huntingtin Huntingtin contains a few domains that suggest particular functions, including WW domains and caspase cleavage sites (7, 8), but the function of the protein remains unknown. Huntingtin is expressed in the cytoplasm of most cells in the body. In the brain, expression is found predominantly in neurons (2, 9‐11). Within the cell, the protein is associated with" @default.
• W2161883297 created "2016-06-24" @default.
• W2161883297 creator A5019611038 @default.
• W2161883297 date "2003-02-01" @default.
• W2161883297 modified "2023-10-10" @default.
• W2161883297 title "Huntingtin in health and disease" @default.
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• W2161883297 doi "https://doi.org/10.1172/jci17742" @default.
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