Evidence map›Paper›PMID 32457326›Full record

ArticleNature communications2020

The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis.

Mehdi Pirouz, Chih-Hao Wang, Qi Liu, Aref G Ebrahimi, Farnaz Shamsi, Yu-Hua Tseng, Richard I Gregory

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 33% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. Gene expression regulation by CaCellular & molecular biology letters · 2026
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Phenotypic Carney-Stratakis syndrome withProceedings (Baylor University. Medical Center) · 2025
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. A shape-shifting nuclease unravels structured RNA.Nature structural & molecular biology · 2023
    Article
  15. Review
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

7 authors at 3 institutions in 1 country.

Mehdi PirouzStem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0002-7439-6066
Chih-Hao WangSection on Integrative Physiology and Metabolism, Joslin Diabetes Center, Harvard Medical School, Boston, MA, 02215, USA.ORCID http://orcid.org/0000-0003-1704-1311
Qi LiuStem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, 02115, USA.
Aref G EbrahimiSection on Islet Cell and Regenerative Biology, Joslin Diabetes Center, Harvard Medical School, Boston, MA, 02115, USA.
Farnaz ShamsiSection on Integrative Physiology and Metabolism, Joslin Diabetes Center, Harvard Medical School, Boston, MA, 02215, USA.ORCID http://orcid.org/0000-0003-3506-6950
Yu-Hua TsengSection on Integrative Physiology and Metabolism, Joslin Diabetes Center, Harvard Medical School, Boston, MA, 02215, USA.ORCID http://orcid.org/0000-0003-2053-9559
Richard I GregoryStem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, 02115, USA. rgregory@enders.tch.harvard.edu.ORCID http://orcid.org/0000-0001-8090-8673
Joslin Diabetes Center · USBoston Children's Hospital · USBoston University · US

Funding

SPECIAL ASSAY COREP30DK036836 · NIDDK · JOSLIN DIABETES CENTER · PI ROHIT N. KULKARNI · 1986 to 2026
$50.5M
Regulation of microRNA Biogenesis in Stem CellsR01GM086386 · NIGMS · BOSTON CHILDREN'S HOSPITAL · PI GREGORY, RICHARD I. · 2009 to 2018
$3.1M
Role of noncoding RNA decay in glucose homeostasisK01DK121861 · NIDDK · RBHS-ROBERT WOOD JOHNSON MEDICAL SCHOOL · PI PIROUZ, MEHDI · 2020 to 2021
$309k
NIDDK NIH HHS K01 DK121861NIDDK NIH HHS P30 DK036836NIGMS NIH HHS R01 GM086386
6 · The paper itself

Abstract

DIS3L2-mediated decay (DMD) is a surveillance pathway for certain non-coding RNAs (ncRNAs) including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), small nuclear RNAs (snRNAs), and RMRP. While mutations in DIS3L2 are associated with Perlman syndrome, the biological significance of impaired DMD is obscure and pathological RNAs have not been identified. Here, by ribosome profiling (Ribo-seq) we find specific dysregulation of endoplasmic reticulum (ER)-targeted mRNA translation in DIS3L2-deficient cells. Mechanistically, DMD functions in the quality control of the 7SL ncRNA component of the signal recognition particle (SRP) required for ER-targeted translation. Upon DIS3L2 loss, sustained 3'-end uridylation of aberrant 7SL RNA impacts ER-targeted translation and causes ER calcium leakage. Consequently, elevated intracellular calcium in DIS3L2-deficient cells activates calcium signaling response genes and perturbs ESC differentiation. Thus, DMD is required to safeguard ER-targeted mRNA translation, intracellular calcium homeostasis, and stem cell differentiation.

Indexed as

AnimalsCalciumCalcium SignalingCell DifferentiationEmbryonic Stem CellsEndoplasmic ReticulumExoribonucleasesFetal MacrosomiaGene Expression RegulationHumansInsulinMiceProtein BiosynthesisRNA, MessengerRNA, Small CytoplasmicSignal Recognition Particle7SL RNACalciumDIS3L2 protein, humanExoribonucleasesInsulinRNA, MessengerRNA, Small CytoplasmicSignal Recognition ParticleUridine Monophosphate

Identifiers

PMID32457326
PMCPMC7250864
OpenAlexW3028665091

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.