Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.
Amino Acid Oxidoreductases
/ genetics
Exfoliation Syndrome
/ genetics
Gene Expression Regulation
/ genetics
Genetic Predisposition to Disease
Glaucoma, Open-Angle
/ genetics
Humans
Multiprotein Complexes
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Promoter Regions, Genetic
/ genetics
RNA, Long Noncoding
/ genetics
Ribonucleoproteins
/ genetics
Journal
Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958
Informations de publication
Date de publication:
29 07 2020
29 07 2020
Historique:
received:
12
09
2019
revised:
09
01
2020
accepted:
03
02
2020
pubmed:
11
2
2020
medline:
24
8
2021
entrez:
11
2
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32037441
pii: 5731475
doi: 10.1093/hmg/ddaa021
pmc: PMC7390937
doi:
Substances chimiques
HNRNPL protein, human
0
Multiprotein Complexes
0
RNA, Long Noncoding
0
Ribonucleoproteins
0
Amino Acid Oxidoreductases
EC 1.4.-
LOXL1 protein, human
EC 1.4.3.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1986-1995Subventions
Organisme : NEI NIH HHS
ID : P30 EY005722
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY022359
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028608
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY019696
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY030617
Pays : United States
Informations de copyright
© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
Références
J Cell Physiol. 2014 Jul;229(7):927-42
pubmed: 24318513
Genome Res. 2012 Sep;22(9):1775-89
pubmed: 22955988
Nat Methods. 2012 Jun 28;9(7):676-82
pubmed: 22743772
Nature. 2013 Jul 11;499(7457):172-7
pubmed: 23846655
Science. 2007 Sep 7;317(5843):1397-400
pubmed: 17690259
Bioinformatics. 2013 Jan 1;29(1):15-21
pubmed: 23104886
Mol Cell Biol. 2005 Jul;25(14):5801-11
pubmed: 15987998
Exp Eye Res. 2009 Apr;88(4):776-85
pubmed: 18809397
Nature. 2017 Mar 9;543(7644):199-204
pubmed: 28241135
Invest Ophthalmol Vis Sci. 2009 Jan;50(1):75-83
pubmed: 18708620
Hepatology. 2018 Nov;68(5):1817-1832
pubmed: 29790588
IUBMB Life. 2019 Oct;71(10):1537-1551
pubmed: 31188543
J Glaucoma. 2018 Mar;27(3):202-209
pubmed: 28671923
Mol Cell Biol. 2014 Jun;34(12):2318-29
pubmed: 24732794
RNA. 2014 May;20(5):713-20
pubmed: 24664469
Br J Biomed Sci. 2019 Jan;76(1):17-23
pubmed: 30203720
BMC Bioinformatics. 2010 Mar 15;11:129
pubmed: 20230624
Biochem Biophys Res Commun. 2018 Oct 28;505(2):561-568
pubmed: 30278884
Curr Eye Res. 2016 Oct;41(10):1331-1338
pubmed: 27116380
Br J Ophthalmol. 1996 May;80(5):389-93
pubmed: 8695555
Nucleic Acids Res. 2012 Jan;40(Database issue):D91-7
pubmed: 22067447
Proc Natl Acad Sci U S A. 2014 Jan 21;111(3):1002-7
pubmed: 24371310
Invest Ophthalmol Vis Sci. 2014 Nov 13;55(12):8067-76
pubmed: 25395486
Mol Ther. 2018 Dec 5;26(12):2812-2822
pubmed: 30301666
Genome Biol. 2014;15(12):550
pubmed: 25516281
Sci Rep. 2016 Nov 14;6:37127
pubmed: 27841369
Hum Mol Genet. 2015 Nov 15;24(22):6552-63
pubmed: 26307087
J Cell Physiol. 2005 Dec;205(3):364-71
pubmed: 15895394
Graefes Arch Clin Exp Ophthalmol. 2017 Sep;255(9):1763-1769
pubmed: 28660443
J R Soc Interface. 2012 Jun 7;9(71):1144-55
pubmed: 22171066
Sci Adv. 2017 Sep 27;3(9):eaao2110
pubmed: 28959731
Mol Vis. 2008 Jul 09;14:1254-62
pubmed: 18618003
Stem Cells Dev. 2018 Apr 15;27(8):534-544
pubmed: 29482449
Biochem J. 2017 Aug 11;474(17):2925-2935
pubmed: 28801479
J Glaucoma. 2010 Feb;19(2):136-41
pubmed: 19373106
Invest Ophthalmol Vis Sci. 2011 Jul 15;52(8):5240-50
pubmed: 21546528
Biosci Rep. 2019 Apr 30;39(4):
pubmed: 30944201
Biochem Biophys Res Commun. 2017 Apr 8;485(3):569-576
pubmed: 27913295
J Pathol. 2016 Oct;240(2):197-210
pubmed: 27425145
Mol Vis. 2008 Jan 29;14:146-9
pubmed: 18334928
Exp Eye Res. 2017 Jan;154:88-103
pubmed: 27845061
Cancer Med. 2018 Sep;7(9):4729-4743
pubmed: 30079478
Nat Genet. 2003 Jul;34(3):267-73
pubmed: 12808457
Mol Vis. 2008;14:1898-905
pubmed: 18958304
Clin Exp Ophthalmol. 2008 Jan-Feb;36(1):19-25
pubmed: 18042264
Anal Cell Pathol (Amst). 2018 Jun 27;2018:9275685
pubmed: 30050750
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W361-7
pubmed: 24829458
J Glaucoma. 2018 Jul;27 Suppl 1:S29-S31
pubmed: 29965899
Methods Mol Biol. 2014;1165:115-43
pubmed: 24839023
Nat Genet. 2017 Jul;49(7):993-1004
pubmed: 28553957
Curr Opin Struct Biol. 2016 Jun;38:83-91
pubmed: 27315040
Mol Ther Nucleic Acids. 2017 Dec 15;9:207-217
pubmed: 29246299
Surv Ophthalmol. 2001 Jan-Feb;45(4):265-315
pubmed: 11166342
Mol Syst Biol. 2014 Oct 30;10:757
pubmed: 25358341
Nat Methods. 2015 Feb;12(2):115-21
pubmed: 25633503
Genome Res. 2019 Sep;29(9):1377-1388
pubmed: 31434680
Elife. 2014 Feb 12;3:e02046
pubmed: 24521543
Dev Growth Differ. 2012 Jan;54(1):44-54
pubmed: 22070123