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

Heather M. Schmitt, William M. Johnson, Inas F. Aboobakar, Shelby Strickland, María Gomez-Caraballo, Megan Parker, Laura Finnegan, David L. Corcoran, Nikolai P. Skiba, R. Rand Allingham, Michael A. Hauser, W. Daniel Stamer

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1986-1995
Number of pages10
JournalHuman molecular genetics
Volume29
Issue number12
DOIs
StatePublished - 2021
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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