Replication‐Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease,Movement Disorders

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Replication‐Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease
Movement Disorders ( IF 8.6 ) Pub Date : 2020-02-10 , DOI: 10.1002/mds.27998
Soo Hyun Seo _{1,

2} , Albino Bacolla ₃ , Dallah Yoo ₄ , Yoon Jung Koo _{2,

5} , Sung Im Cho _{2,

5} , Man Jin Kim _{2,

5} , Moon-Woo Seong _{2,

5} , Han-Joon Kim _{2,

6} , Jong-Min Kim _{2,

7} , John A Tainer ₃ , Sung Sup Park _{2,

5,

8} , Ji Yeon Kim ₈ , Beomseok Jeon _{2,

6}

Affiliation

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.

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