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

Publication ,  Journal Article
Schmitt, HM; Johnson, WM; Aboobakar, IF; Strickland, S; Gomez-Caraballo, M; Parker, M; Finnegan, L; Corcoran, DL; Skiba, NP; Allingham, RR ...
Published in: Hum Mol Genet
July 29, 2020

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.

Duke Scholars

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 29, 2020

Volume

29

Issue

12

Start / End Page

1986 / 1995

Location

England

Related Subject Headings

  • Ribonucleoproteins
  • RNA, Long Noncoding
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Multiprotein Complexes
  • Humans
  • Glaucoma, Open-Angle
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Gene Expression Regulation
 

Citation

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MLA
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Schmitt, H. M., Johnson, W. M., Aboobakar, I. F., Strickland, S., Gomez-Caraballo, M., Parker, M., … Stamer, W. D. (2020). Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1. Hum Mol Genet, 29(12), 1986–1995. https://doi.org/10.1093/hmg/ddaa021
Schmitt, Heather M., William M. Johnson, Inas F. Aboobakar, Shelby Strickland, María Gomez-Caraballo, Megan Parker, Laura Finnegan, et al. “Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.Hum Mol Genet 29, no. 12 (July 29, 2020): 1986–95. https://doi.org/10.1093/hmg/ddaa021.
Schmitt HM, Johnson WM, Aboobakar IF, Strickland S, Gomez-Caraballo M, Parker M, et al. Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1. Hum Mol Genet. 2020 Jul 29;29(12):1986–95.
Schmitt, Heather M., et al. “Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.Hum Mol Genet, vol. 29, no. 12, July 2020, pp. 1986–95. Pubmed, doi:10.1093/hmg/ddaa021.
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. Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1. Hum Mol Genet. 2020 Jul 29;29(12):1986–1995.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

July 29, 2020

Volume

29

Issue

12

Start / End Page

1986 / 1995

Location

England

Related Subject Headings

  • Ribonucleoproteins
  • RNA, Long Noncoding
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Multiprotein Complexes
  • Humans
  • Glaucoma, Open-Angle
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Gene Expression Regulation