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• W2159880072 endingPage "963" @default.
• W2159880072 startingPage "943" @default.
• W2159880072 abstract "Trinucleotide repeat expansions are an important cause of inherited neurodegenerative disease. The expanded repeats are unstable, changing in size when transmitted from parents to offspring (inter-generational instability, “meiotic instability”) and often showing size variation within the tissues of an affected individual (somatic mosaicism, “mitotic instability”). Repeat instability is a clinically important phenomenon, as increasing repeat lengths correlate with an earlier age of onset and a more severe disease phenotype. The tendency of expanded trinucleotide repeats to increase in length during their transmission from parent to offspring in these diseases provides a molecular explanation for anticipation (increasing disease severity in successive affected generations). In this review, I explore the genetic and molecular basis of trinucleotide repeat instability. Studies of patients and families with trinucleotide repeat disorders have revealed a number of factors that determine the rate and magnitude of trinucleotide repeat change. Analysis of trinucleotide repeat instability in bacteria, yeast, and mice has yielded additional insights. Despite these advances, the pathways and mechanisms underlying trinucleotide repeat instability in humans remain largely unknown. There are many reasons to suspect that this uniquely human phenomenon will significantly impact upon our understanding of development, differentiation and neurobiology." @default.
• W2159880072 created "2016-06-24" @default.
• W2159880072 creator A5064140449 @default.
• W2159880072 date "1997-07-01" @default.
• W2159880072 modified "2023-09-25" @default.
• W2159880072 title "Trinucleotide Repeat Instability: Genetic Features and Molecular Mechanisms" @default.
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