Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

ABSTRACT:

Background

Approximately 1% of normal tension glaucoma (NTG) cases are caused by TANK-binding kinase 1 (TBK1) gene duplications and triplications. However, the precise borders and orientation of these TBK1 gene copy number variations (CNVs) on chromosome 12 are unknown.

Methods

We determined the exact borders of TBK1 CNVs and the orientation of duplicated or triplicated DNA segments in 5 NTG patients with different TBK1 mutations using whole-genome sequencing.

Results

Tandemly duplicated chromosome segments spanning the TBK1 gene were detected in 4 NTG patients, each with unique borders. Four of 5 CNVs had borders located within interspersed repetitive DNA sequences (Alu and long interspersed nuclear element-L1 elements), suggesting that mismatched homologous recombin

SUBMITTER: DeLuca AP 

PROVIDER: S-EPMC5716909 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature