Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

• Main Authors: Pasutto, F, Zenkel, M, Hoja, U, Berner, D, Uebe, S, Ferrazzi, F, Schödel, J, Liravi, P, Ozaki, M, Paoli, D, Frezzotti, P, Mizoguchi, T, Nakano, S, Kubota, T, Manabe, S, Salvi, E, Manunta, P, Cusi, D, Gieger, C, Wichmann, H.-E, Aung, T, Khor, C.C, Kruse, F.E, Reis, A, Schlötzer-Schrehardt, U
• Other Authors: OPHTHALMOLOGY
• Format: Article
• Published: Nature Publishing Group 2020
• Subjects: complementary DNA; DNA; genomic DNA; hepatocyte nuclear factor 4; hepatocyte nuclear factor 4alpha; heterodimer; immunoglobulin enhancer binding protein; immunoglobulin G; lysyl oxidase like 1; messenger RNA; myogenin; nf 1 protein; NR2F1 protein; oligonucleotide; peroxisome proliferator activated receptor alpha; peroxisome proliferator activated receptor gamma; protein; puromycin; retinoic acid; retinoid X receptor alpha; RNA polymerase II; roaz protein; small interfering RNA; transcription factor; unclassified drug; zid protein; LOXL1 protein, human; oxidoreductase; protein binding; allele; cardiovascular disease; chemical binding; data assimilation; enzyme activity; genetic variation; risk factor; allelic imbalance; alternative RNA splicing; Article; binding affinity; binding site; biotinylation; chromosome 15; cohort analysis; comparative study; controlled study; DNA binding; DNA probe; DNA protein complex; enhancer region; gel mobility shift assay; gene activation; gene control; gene expression; gene locus; genetic transfection; genetic variability; genome-wide association study; genotype; genotype phenotype correlation; glaucoma; haplotype; human; human tissue; in vitro study; intron; luciferase assay; major clinical study; molecular size; nonsense mediated mRNA decay; polymorphic locus; promoter region; protein expression; pseudoexfoliation; quantitative analysis; reverse transcription polymerase chain reaction; RNA analysis; single nucleotide polymorphism; steady state; transient transfection; upregulation; aged; case control study; chemistry; chromatin; complication; female; genetic predisposition; genetics; Germany; Italy; Japan; male; middle aged; very elderly; Aged; Aged, 80 and over; Alleles; Alternative Splicing; Amino Acid Oxidoreductases; Case-Control Studies; Chromatin; Enhancer Elements, Genetic; Exfoliation Syndrome; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Glaucoma; Humans; Introns; Male; Middle Aged; Polymorphism, Single Nucleotide; Protein Binding; Retinoid X Receptor alpha
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/179715
• Institution: National University of Singapore

10.1038/ncomms15466