MétaCan
Menu
Back to cohort
Record W4312094292 · doi:10.1038/s41588-022-01261-2

A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk

2022· article· en· W4312094292 on OpenAlexafffund
Antje K. Rottner, Yingying Ye, Elena Navarro‐Guerrero, Varsha Rajesh, Alina Pollner, Romina J. Bevacqua, Jing Yang, Aliya F Spigelman, Roberta Baronio, Austin Bautista, Soren K. Thomsen, James Lyon, Sameena Nawaz, Nancy Smith, Agata Wesolowska‐Andersen, Jocelyn E. Manning Fox, Han Sun, Seung K. Kim, Daniel Ebner, Patrick E. MacDonald, Anna L. Gloyn

Bibliographic record

VenueNature Genetics · 2022
Typearticle
Languageen
FieldMedicine
TopicPancreatic function and diabetes
Canadian institutionsUniversity of Alberta
FundersNational Center for Research ResourcesWellcomeCanadian Institutes of Health ResearchUniversity of OxfordNational Institute of Diabetes and Digestive and Kidney DiseasesStanford Diabetes Research CenterNational Institutes of HealthU.S. Department of Health and Human ServicesVertex PharmaceuticalsWellcome TrustEuropean Foundation for the Study of DiabetesAstraZeneca
KeywordsBiologyCRISPRGenome-wide association studyGeneticsType 2 diabetesGenetic screenProinsulinEffectorGenomePhenotypeLocus (genetics)GeneCell typeComputational biologyCell biologyInsulinCellSingle-nucleotide polymorphismDiabetes mellitusGenotypeEndocrinology

Abstract

fetched live from OpenAlex

Identification of the genes and processes mediating genetic association signals for complex diseases represents a major challenge. As many of the genetic signals for type 2 diabetes (T2D) exert their effects through pancreatic islet-cell dysfunction, we performed a genome-wide pooled CRISPR loss-of-function screen in a human pancreatic beta cell line. We assessed the regulation of insulin content as a disease-relevant readout of beta cell function and identified 580 genes influencing this phenotype. Integration with genetic and genomic data provided experimental support for 20 candidate T2D effector transcripts including the autophagy receptor CALCOCO2. Loss of CALCOCO2 was associated with distorted mitochondria, less proinsulin-containing immature granules and accumulation of autophagosomes upon inhibition of late-stage autophagy. Carriers of T2D-associated variants at the CALCOCO2 locus further displayed altered insulin secretion. Our study highlights how cellular screens can augment existing multi-omic efforts to support mechanistic understanding and provide evidence for causal effects at genome-wide association studies loci.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0010.000
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.007
GPT teacher head0.237
Teacher spread0.230 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations58
Published2022
Admission routes2
Has abstractyes

Explore more

Same venueNature GeneticsSame topicPancreatic function and diabetesFrench-language works237,207