Evidence map›Paper›PMID 33704438›Full record

ArticleGenetics2021

Functional impact of cancer-associated cohesin variants on gene expression and cellular identity.

Natalie L Rittenhouse, Zachary M Carico, Ying Frances Liu, Holden C Stefan, Nicole L Arruda, Junjie Zhou, Jill M Dowen

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

13 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Review
  6. Cohesin regulation and roles in chromosome structure and function.Current opinion in genetics & development · 2024
    Review
  7. Role of chromosomal cohesion and separation in aneuploidy and tumorigenesis.Cellular and molecular life sciences : CMLS · 2024
    Review
  8. Article
  9. ASXL1/2 mutations and myeloid malignancies.Journal of hematology & oncology · 2022
    Review
  10. Review
  11. The multifaceted roles of cohesin in cancer.Journal of experimental & clinical cancer research : CR · 2022
    Review
  12. Review
  13. Cohesin Mutations in Cancer: Emerging Therapeutic Targets.International journal of molecular sciences · 2021
    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 1 institution in 1 country.

Natalie L RittenhouseCurriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Zachary M CaricoIntegrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Ying Frances LiuIntegrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Holden C StefanIntegrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Nicole L ArrudaCurriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Junjie ZhouIntegrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Jill M DowenCurriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
University of North Carolina at Chapel Hill · US

Funding

NRSA IN GENETICST32GM007092 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SEKELSKY, JEFF J. · 1985 to 2019
$5.9M
NRSA in GeneticsT32GM135128 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Daniel J McKay, JEFF J. SEKELSKY · 2020 to 2026
$5.1M
CANCER CELL BIOLOGY TRAINING PROGRAMT32CA071341 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHANNING J. DER, Yuliya Pylayeva-Gupta · 1996 to 2026
$5.0M
Regulation of chromosome structure and gene expression by architectural proteinsR35GM124764 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DOWEN, JILL · 2017 to 2021
$2.0M
Cancer Epigenetics Training GrantT32CA217824 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WEISSMAN, BERNARD E. · 2017 to 2021
$1.8M
NCI NIH HHS T32 CA217824NIGMS NIH HHS R35 GM124764NIGMS NIH HHS T32 GM007092NIGMS NIH HHS T32 GM135128
6 · The paper itself

Abstract

Cohesin is a ring-shaped protein complex that controls dynamic chromosome structure. Cohesin activity is important for a variety of biological processes, including formation of DNA loops that regulate gene expression. The precise mechanisms by which cohesin shapes local chromosome structure and gene expression are not fully understood. Recurrent mutations in cohesin complex members have been reported in various cancers, though it is not clear whether many cohesin sequence variants have phenotypes and contribute to disease. Here, we utilized CRISPR/Cas9 genome editing to introduce a variety of cohesin sequence variants into murine embryonic stem cells and investigate their molecular and cellular consequences. Some of the cohesin variants tested caused changes to transcription, including altered expression of gene encoding lineage-specifying developmental regulators. Altered gene expression was also observed at insulated neighborhoods, where cohesin-mediated DNA loops constrain potential interactions between genes and enhancers. Furthermore, some cohesin variants altered the proliferation rate and differentiation potential of murine embryonic stem cells. This study provides a functional comparison of cohesin variants found in cancer within an isogenic system, revealing the relative roles of various cohesin perturbations on gene expression and maintenance of cellular identity.

Indexed as

Cell DifferentiationGene Expression Regulation, NeoplasticMutationAnimalsCell Cycle ProteinsCell LineChromosomal Proteins, Non-HistoneCohesinsEnhancer Elements, GeneticMaleMiceMice, Inbred C57BLMouse Embryonic Stem CellsNeoplasmsCell Cycle ProteinsChromosomal Proteins, Non-HistoneCohesinscancercell identityCohesindifferentiationgene expressionmutationvariant

Identifiers

PMID33704438
PMCPMC8049558
OpenAlexW3130485834

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.