Contracting disease-causing repeat expansions
نویسندگان
چکیده
منابع مشابه
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
IMPORTANCE Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis. OBJECTIVE To investigate the frequency of C9orf72 repeat expansions in clinically diagnosed late-onset Alzheimer disease (AD). DESIGN, SETTING, AND PATIENTS This case-control study genotyped the C9o...
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OBJECTIVES We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, S...
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The general model that dominant diseases are caused by mutations that result in a gain or change in function of the corresponding protein was challenged by the discovery that the myotonic dystrophy type 1 mutation is a CTG expansion located in the 3' untranslated portion of a kinase gene. The subsequent discovery that a similar transcribed but untranslated CCTG expansion in an intron causes the...
متن کاملRNA biology of disease-associated microsatellite repeat expansions
Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA in this re...
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Expansions of simple DNA repeats account for more than two dozen hereditary disorders in humans (for recent reviews see Lenzmeier and Freudenreich, Jin and Warren, Parniewski and Staczek, Ranum and Day, Brown and Brown, Cummings and Zoghbi, Bowater and Wells, and Siyanova and Mirkin). Table 1 describes those diseases and their important genetic features. Although originally discovered expansion...
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ژورنال
عنوان ژورنال: Science
سال: 2020
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.367.6483.1208-b