Evidence map›Paper›PMID 27694816›Full record

ArticleNature communications2016

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.

Birgit Ploier, Lydia N Caro, Takefumi Morizumi, Kalpana Pandey, Jillian N Pearring, Michael A Goren, Silvia C Finnemann, Johannes Graumann, Vadim Y Arshavsky, Jeremy S Dittman and 2 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

45 citing papers in PubMed, 62 citations in OpenAlex.

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  14. Article
  15. Supramolecular organization of rhodopsin in rod photoreceptor cell membranes.Pflugers Archiv : European journal of physiology · 2021
    Review
  16. Structural aspects of rod opsin and their implication in genetic diseases.Pflugers Archiv : European journal of physiology · 2021
    Review
  17. Functional compartmentalization of photoreceptor neurons.Pflugers Archiv : European journal of physiology · 2021
    Review
  18. Article
  19. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 3 countries.

Birgit PloierDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Lydia N CaroDepartment of Biochemistry, University of Toronto, Toronto, Ontario, Canada M5S 1A8.
Takefumi MorizumiDepartment of Biochemistry, University of Toronto, Toronto, Ontario, Canada M5S 1A8.
Kalpana PandeyDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Jillian N PearringDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Michael A GorenDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Silvia C FinnemannDepartment of Biological Sciences, Center for Cancer, Genetic Diseases and Gene Regulation, Fordham University, Bronx, New York 10458, USA.
Johannes GraumannDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.ORCID 0000-0002-3015-5850
Vadim Y ArshavskyDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Jeremy S DittmanDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.
Oliver P ErnstDepartment of Biochemistry, University of Toronto, Toronto, Ontario, Canada M5S 1A8.
Anant K MenonDepartment of Biochemistry, Weill Cornell Medical College, 1300 York Avenue, New York, New York 10065, USA.ORCID 0000-0001-6924-2698
Cornell University · USUniversity of Toronto · CADuke Medical Center · USFordham University · US

Funding

VISION RESEARCHP30EY005722 · NEI · DUKE UNIVERSITY · PI Vadim Y Arshavsky · 1985 to 2026
$19.3M
Molecular mechanisms of photoreceptor outer segment morphogenesisR01EY012859 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI ARSHAVSKY, VADIM Y · 2000 to 2022
$10.0M
Analysis of synaptic protein dynamicsR01GM095674 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI DITTMAN, JEREMY SAMUEL · 2011 to 2019
$3.2M
Molecular mechanisms of outer segment renewalR01EY026215 · NEI · FORDHAM UNIVERSITY · PI FINNEMANN, SILVIA C · 2016 to 2020
$2.0M
Rhodopsin-mediated phospholipid flippingR21EY024207 · NEI · WEILL MEDICAL COLL OF CORNELL UNIV · PI MENON, ANANT K · 2014 to 2015
$462k
Understanding Photoreceptor Trafficking Pathways to the Outer SegmentK99EY025732 · NEI · DUKE UNIVERSITY · PI PEARRING, JILLIAN NYDAM · 2015 to 2016
$237k
Austrian Science Fund FWF J 3686NEI NIH HHS K99 EY025732NEI NIH HHS P30 EY005722NEI NIH HHS R01 EY012859NEI NIH HHS R01 EY026215NEI NIH HHS R21 EY024207NIGMS NIH HHS R01 GM095674
6 · The paper itself

Abstract

Retinitis pigmentosa (RP) is a blinding disease often associated with mutations in rhodopsin, a light-sensing G protein-coupled receptor and phospholipid scramblase. Most RP-associated mutations affect rhodopsin's activity or transport to disc membranes. Intriguingly, some mutations produce apparently normal rhodopsins that nevertheless cause disease. Here we show that three such enigmatic mutations-F45L, V209M and F220C-yield fully functional visual pigments that bind the 11-cis retinal chromophore, activate the G protein transducin, traffic to the light-sensitive photoreceptor compartment and scramble phospholipids. However, tests of scramblase activity show that unlike wild-type rhodopsin that functionally reconstitutes into liposomes as dimers or multimers, F45L, V209M and F220C rhodopsins behave as monomers. This result was confirmed in pull-down experiments. Our data suggest that the photoreceptor pathology associated with expression of these enigmatic RP-associated pigments arises from their unexpected inability to dimerize via transmembrane helices 1 and 5.

Indexed as

MutationPoint MutationAnimalsCattleChlorocebus aethiopsCOS CellsGTP-Binding ProteinsHEK293 CellsHumansLiposomesMice, KnockoutPhospholipid Transfer ProteinsProtein MultimerizationRetinaRetinitis PigmentosaRhodopsinGTP-Binding ProteinsLiposomesPhospholipid Transfer ProteinsRhodopsinTransducin

Identifiers

PMID27694816
PMCPMC5059438
OpenAlexW2527882322

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.