Variations in LOXL1 associated with exfoliation glaucoma do not affect amine oxidase activity.

ABSTRACT:

Purpose

Lysyl oxidase-like 1 (LOXL1) is a copper-dependant amine oxidase that plays an essential role in elastogenesis. Two non-synonymous single-nucleotide polymorphisms of LOXL1, R141L (rs1048661) and G153D (rs3825942), have been reported to significantly increase susceptibility to exfoliation glaucoma (XFG). To evaluate the impact of the R141L and G153D variations on the amine oxidase activity of LOXL1, we generated four different haplotypes of LOXL1 with R141L and G153D and assessed the amine oxidase activity of the LOXL1 variant proteins.

Methods

The four different haplotype variants of LOXL1 were created by oligonucleotide-directed mutagenesis in an LOXL1 expression vector. Recombinant LOXL1 variant proteins were purified by nickel-affinity chromatography. The amine ox

SUBMITTER: Kim S 

PROVIDER: S-EPMC3275637 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature