Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in <i>TAF1</i> with Nanopore Sequencing

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in <i>TAF1</i> with Nanopore Sequencing

Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE-VNTR-Alu (SVA) retrotransposon insertion in the <i>TAF1</i> gene with a polymorphic (<i>CCCTCT</i>)<...

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Bibliographic Details
Main Authors: Theresa Lüth, Joshua Laβ, Susen Schaake, Inken Wohlers, Jelena Pozojevic, Roland Dominic G. Jamora, Raymond L. Rosales, Norbert Brüggemann, Gerard Saranza, Cid Czarina E. Diesta, Kathleen Schlüter, Ronnie Tse, Charles Jourdan Reyes, Max Brand, Hauke Busch, Christine Klein, Ana Westenberger, Joanne Trinh
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
X-linked dystonia-parkinsonism
nanopore sequencing
repeat motif
CpG methylation
Online Access:https://www.mdpi.com/2073-4425/13/1/126

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https://www.mdpi.com/2073-4425/13/1/126

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