Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

Journal Article (Journal Article)

Individuals with pseudoexfoliation (PEX) syndrome exhibit various connective tissue pathologies associated with dysregulated extracellular matrix homeostasis. PEX glaucoma is a common, aggressive form of open-angle glaucoma resulting from the deposition of fibrillary material in the conventional outflow pathway. However, the molecular mechanisms that drive pathogenesis and genetic risk remain poorly understood. PEX glaucoma-associated single-nucleotide polymorphisms are located in and affect activity of the promoter of LOXL1-AS1, a long non-coding RNA (lncRNA). Nuclear and non-nuclear lncRNAs regulate a host of biological processes, and when dysregulated, contribute to disease. Here we report that LOXL1-AS1 localizes to the nucleus where it selectively binds to the mRNA processing protein, heterogeneous nuclear ribonucleoprotein-L (hnRNPL). Both components of this complex are critical for the regulation of global gene expression in ocular cells, making LOXL1-AS1 a prime target for investigation in PEX syndrome and glaucoma.

Full Text

Duke Authors

Cited Authors

  • Schmitt, HM; Johnson, WM; Aboobakar, IF; Strickland, S; Gomez-Caraballo, M; Parker, M; Finnegan, L; Corcoran, DL; Skiba, NP; Allingham, RR; Hauser, MA; Stamer, WD

Published Date

  • July 29, 2020

Published In

Volume / Issue

  • 29 / 12

Start / End Page

  • 1986 - 1995

PubMed ID

  • 32037441

Pubmed Central ID

  • PMC7390937

Electronic International Standard Serial Number (EISSN)

  • 1460-2083

Digital Object Identifier (DOI)

  • 10.1093/hmg/ddaa021


  • eng

Conference Location

  • England