Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.

ABSTRACT:

Background

SNCA multiplication is a genomic cause of familial PD, showing dosage-dependent toxicity. Until now, nonallelic homologous recombination was suggested as the mechanism of SNCA duplication, based on various types of repetitive elements found in the spanning region of the breakpoints. However, the sequence at the breakpoint was analyzed only for 1 case.

Objectives

We have analyzed the breakpoint sequences of 6 patients with PD who had duplicated SNCA using whole-genome sequencing data to elucidate the mechanism of SNCA duplication.

Methods

Six patient samples with SNCA duplication underwent whole-genome sequencing. The duplicated regions were defined with nucleotide-resolution breakpoints, which were confirmed by junction polymerase chain reaction and Sanger

SUBMITTER: Seo SH 

PROVIDER: S-EPMC7359376 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature