Abstract
G protein-coupled receptors (GPCRs) are the largest family of signaling proteins expressed in every cell in the body and are targeted by the majority of clinically used drugs [1]. GPCR signaling, including rhodopsin-driven phototransduction, is terminated by receptor phosphorylation followed by arrestin binding [2]. Genetic defects in receptor phosphorylation and excessive signaling by overactive GPCR mutants result in a wide variety of diseases, from retinal degeneration to cancer [3-6]. Here, we tested whether arrestin1 mutants with enhanced ability to bind active unphosphorylated rhodopsin [7-10] can suppress uncontrolled signaling, bypassing receptor phosphorylation by rhodopsin kinase (RK) and replacing this two-step mechanism with a single-step deactivation in rod photoreceptors. We show that in this precisely timed signaling system with single-photon sensitivity [11], an enhanced arrestin1 mutant partially compensates for defects in rhodopsin phosphorylation, promoting photoreceptor survival, improving functional performance, and facilitating photoresponse recovery. These proof-of-principle experiments demonstrate the feasibility of functional compensation in vivo for the first time, which is a promising approach for correcting genetic defects associated with gain-of-function mutations. Successful modification of protein-protein interactions by appropriate mutations paves the way to targeted redesign of signaling pathways to achieve desired functional outcomes.
MeSH Terms
Animals
Arrestin/genetics,metabolism
Electroretinography
G-Protein-Coupled Receptor Kinase 1/genetics,metabolism
Mice
Mice, Knockout
Mutation
Phosphorylation
Retinal Rod Photoreceptor Cells/cytology,metabolism
Rhodopsin/genetics,metabolism
Chemicals
Arrestin
Rhodopsin
G-Protein-Coupled Receptor Kinase 1
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Song Xiufeng
Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Vishnivetskiy Sergey A
Gross Owen P
Emelianoff Katrina
Mendez Ana
Chen Jeannie
Gurevich Eugenia V
Burns Marie E
Gurevich Vsevolod V
References (32)
32 references, click to expand
-
Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.
Br J Ophthalmol. 1993 Aug;77(8):495-501
PMID: 8025047
-
G proteins in cancer: the prostate cancer paradigm.
Sci STKE. 2004 Jan 13;2004(216):re2
PMID: 14734786
-
Photoresponses of human rods in vivo derived from paired-flash electroretinograms.
Vis Neurosci. 1997 Jan-Feb;14(1):73-82
PMID: 9057270
-
Rapid and reproducible deactivation of rhodopsin requires multiple phosphorylation sites.
Neuron. 2000 Oct;28(1):153-64
PMID: 11086991
-
Dissecting the dark-adapted electroretinogram.
Doc Ophthalmol. 1998-1999;95(3-4):187-215
PMID: 10532405
-
Response linearity and kinetics of the cat retina: the bipolar cell component of the dark-adapted electroretinogram.
Vis Neurosci. 1995 Sep-Oct;12(5):837-50
PMID: 8924408
-
The molecular acrobatics of arrestin activation.
Trends Pharmacol Sci. 2004 Feb;25(2):105-11
PMID: 15102497
-
Functional comparisons of visual arrestins in rod photoreceptors of transgenic mice.
Invest Ophthalmol Vis Sci. 2007 May;48(5):1968-75
PMID: 17460248
-
Targeted construction of phosphorylation-independent beta-arrestin mutants with constitutive activity in cells.
J Biol Chem. 1999 Mar 12;274(11):6831-4
PMID: 10066734
-
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
Arch Ophthalmol. 1993 Nov;111(11):1518-24
PMID: 8240108
-
Responses of retinal rods to single photons.
J Physiol. 1979 Mar;288:613-34
PMID: 112243
-
The differential engagement of arrestin surface charges by the various functional forms of the receptor.
J Biol Chem. 2006 Feb 10;281(6):3458-62
PMID: 16339758
-
Crystal structure of cone arrestin at 2.3A: evolution of receptor specificity.
J Mol Biol. 2005 Dec 16;354(5):1069-80
PMID: 16289201
-
Mapping the arrestin-receptor interface. Structural elements responsible for receptor specificity of arrestin proteins.
J Biol Chem. 2004 Jan 9;279(2):1262-8
PMID: 14530255
-
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Nat Genet. 1997 Feb;15(2):175-8
PMID: 9020843
-
How does arrestin respond to the phosphorylated state of rhodopsin?
J Biol Chem. 1999 Apr 23;274(17):11451-4
PMID: 10206946
-
Beyond counting photons: trials and trends in vertebrate visual transduction.
Neuron. 2005 Nov 3;48(3):387-401
PMID: 16269358
-
Visual arrestin interaction with rhodopsin. Sequential multisite binding ensures strict selectivity toward light-activated phosphorylated rhodopsin.
J Biol Chem. 1993 Jun 5;268(16):11628-38
PMID: 8505295
-
Conservation of the phosphate-sensitive elements in the arrestin family of proteins.
J Biol Chem. 2002 Mar 15;277(11):9043-8
PMID: 11782458
-
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
Nat Genet. 1995 Jul;10(3):360-2
PMID: 7670478
-
A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
Hum Mol Genet. 1993 Feb;2(2):207-8
PMID: 8499910
-
Multiple phosphorylation sites confer reproducibility of the rod's single-photon responses.
Science. 2006 Jul 28;313(5786):530-3
PMID: 16873665
-
Deactivation of phosphorylated and nonphosphorylated rhodopsin by arrestin splice variants.
J Neurosci. 2006 Jan 18;26(3):1036-44
PMID: 16421323
-
Recovery phase of the murine rod photoresponse reconstructed from electroretinographic recordings.
J Neurosci. 1996 Jan 15;16(2):563-71
PMID: 8551340
-
Prolonged photoresponses in transgenic mouse rods lacking arrestin.
Nature. 1997 Oct 2;389(6650):505-9
PMID: 9333241
-
Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase.
Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3718-22
PMID: 10097103
-
Regulation of arrestin binding by rhodopsin phosphorylation level.
J Biol Chem. 2007 Nov 2;282(44):32075-83
PMID: 17848565
-
Differential interaction of spin-labeled arrestin with inactive and active phosphorhodopsin.
Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):4900-5
PMID: 16547131
-
Mechanisms of rhodopsin inactivation in vivo as revealed by a COOH-terminal truncation mutant.
Science. 1995 Jan 20;267(5196):374-7
PMID: 7824934
-
G protein-coupled time travel: evolutionary aspects of GPCR research.
Mol Interv. 2007 Feb;7(1):17-25
PMID: 17339603
-
Visual arrestin binding to rhodopsin. Diverse functional roles of positively charged residues within the phosphorylation-recognition region of arrestin.
J Biol Chem. 1995 Mar 17;270(11):6010-6
PMID: 7890732
-
An additional phosphate-binding element in arrestin molecule. Implications for the mechanism of arrestin activation.
J Biol Chem. 2000 Dec 29;275(52):41049-57
PMID: 11024026