Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis.

ABSTRACT:

Objective

As structural variations may underpin susceptibility to complex neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), the objective of this study was to investigate a structural variant (SV) within sequestosome 1 (SQSTM1).

Methods

A candidate insertion/deletion variant within intron 5 of the SQSTM1 gene was identified using a previously established SV evaluation algorithm and chosen according to its subsequent theoretical effect on gene expression. The variant was systematically assessed through PCR, polyacrylamide gel fractionation, Sanger sequencing, and reverse transcriptase PCR.

Results

A reliable and robust assay confirmed the polymorphic nature of this variant and that the variant may influence SQSTM1 transcript l

SUBMITTER: Pytte J 

PROVIDER: S-EPMC7061286 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature