Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project

ABSTRACT Background Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats. Methods We performed an in‐silico analysis of CAG repeats in ATXN1, ATXN2, ATXN3, and HTT using 30× whole‐=genome sequencing data of 2504 samples from the 1...

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Veröffentlicht in:	Movement disorders 2021-02, Vol.36 (2), p.514-518
Hauptverfasser:	Akçimen, Fulya, Ross, Jay P., Liao, Calwing, Spiegelman, Dan, Dion, Patrick A., Rouleau, Guy A.
Format:	Artikel
Sprache:	eng
Schlagworte:	1KGP Alleles ataxia Ataxin-1 - genetics Ataxin-2 - genetics Ataxin-3 - genetics ATXN1 ATXN2 ATXN3 CAG‐repeat diseases Genomes HTT Humans Huntingtin Protein - genetics Huntington Disease Huntingtons disease Machado-Joseph disease Movement disorders Neurodegenerative diseases Polyglutamine Repressor Proteins - genetics Spinocerebellar ataxia Spinocerebellar Ataxias - genetics Trinucleotide Repeat Expansion - genetics Trinucleotide repeats Trinucleotide Repeats - genetics Whole genome sequencing
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