Evidence map›Paper›PMID 37388911›Full record

ArticleCell genomics2023

Cell-type specificity of the human mutation landscape with respect to DNA replication dynamics.

Madison Caballero, Dominik Boos, Amnon Koren

Abstract read
In one paragraph

Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Disentangling sources of clock-like mutations in germline and soma.bioRxiv : the preprint server for biology · 2023
    Article
  7. Article
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

3 authors.

Madison CaballeroDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.
Dominik BoosVertebrate DNA Replication Lab, Center of Medical Biotechnology, University of Duisburg-Essen, 45117 Essen, Germany.
Amnon KorenDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.

Funding

Personal mutational landscapes encoded in our DNADP2GM123495 · NIGMS · CORNELL UNIVERSITY · PI KOREN, AMNON · 2016 to 2016
$2.3M
NIGMS NIH HHS DP2 GM123495
6 · The paper itself

Abstract

The patterns of genomic mutations are associated with various genomic features, most notably late replication timing, yet it remains contested which mutation types and signatures relate to DNA replication dynamics and to what extent. Here, we perform high-resolution comparisons of mutational landscapes between lymphoblastoid cell lines, chronic lymphocytic leukemia tumors, and three colon adenocarcinoma cell lines, including two with mismatch repair deficiency. Using cell-type-matched replication timing profiles, we demonstrate that mutation rates exhibit heterogeneous replication timing associations among cell types. This cell-type heterogeneity extends to the underlying mutational pathways, as mutational signatures show inconsistent replication timing bias between cell types. Moreover, replicative strand asymmetries exhibit similar cell-type specificity, albeit with different relationships to replication timing than mutation rates. Overall, we reveal an underappreciated complexity and cell-type specificity of mutational pathways and their relationship to replication timing.

Indexed as

mutational signaturesmutationsreplication timing

Identifiers

PMID37388911
PMCPMC10300547

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.