Evidence map›Paper›PMID 38391183›Full record

ArticleeLife2024

A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.

Carolline Ascenção, Jennie R Sims, Alexis Dziubek, William Comstock, Elizabeth A Fogarty, Jumana Badar, Raimundo Freire, Andrew Grimson, Robert S Weiss, Paula E Cohen and 1 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2024. 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
0.9field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 2 countries.

Carolline Ascenção *Department of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.ORCID https://orcid.org/0000-0002-0882-7390
Jennie R Sims *Department of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
Alexis DziubekDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
William ComstockDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
Elizabeth A FogartyDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
Jumana BadarDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
Raimundo FreireFundación Canaria del Instituto de Investigación Sanitaria de Canarias (FIISC), Unidad de Investigación, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.ORCID https://orcid.org/0000-0003-4473-8894
Andrew GrimsonDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.
Robert S WeissDepartment of Biomedical Sciences, Cornell University, Ithaca, United States.ORCID https://orcid.org/0000-0003-3327-1379
Paula E CohenDepartment of Biomedical Sciences, Cornell University, Ithaca, United States.ORCID https://orcid.org/0000-0002-2050-6979
Marcus B SmolkaDepartment of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, United States.ORCID https://orcid.org/0000-0001-9952-2885
Cornell University · USUniversidad de La Laguna · ES

Funding

Spermatogenic gene regulation and infertilityP50HD104454 · NICHD · CORNELL UNIVERSITY · PI COHEN, PAULA ELAINE · 2021 to 2025
$8.1M
The MLH1-MLH3 Heterodimer in Mammalian Meiotic Recombination and GameogenesisR01HD041012 · NICHD · YESHIVA UNIVERSITY · PI Paula Elaine Cohen · 2003 to 2026
$7.9M
Coordination of ATR Signaling for Genetic Quality Control, Silencing, and DNA Repair During MeiosisR01HD095296 · NICHD · CORNELL UNIVERSITY · PI Paula Elaine Cohen, Marcus Smolka · 2018 to 2026
$4.2M
Signaling Mechanisms in Genome Maintenance (Equipment Supplement 2023)R35GM141159 · NIGMS · CORNELL UNIVERSITY · PI Marcus Smolka · 2021 to 2026
$3.5M
SLX4 as a mediator of crossover pathway decisions in mammalian meiosisR01HD097987 · NICHD · CORNELL UNIVERSITY · PI COHEN, PAULA ELAINE · 2019 to 2023
$1.9M
NICHD NIH HHS P50 HD104454NICHD NIH HHS R01 HD041012NICHD NIH HHS R01 HD095296NICHD NIH HHS R01 HD097987NIGMS NIH HHS R35 GM141159NIGMS NIH HHS R35-GM141159
6 · The paper itself

Abstract

Meiotic sex chromosome inactivation (MSCI) is a critical feature of meiotic prophase I progression in males. While the ATR kinase and its activator TOPBP1 are key drivers of MSCI within the specialized sex body (SB) domain of the nucleus, how they promote silencing remains unclear given their multifaceted meiotic functions that also include DNA repair, chromosome synapsis, and SB formation. Here we report a novel mutant mouse harboring mutations in the TOPBP1-BRCT5 domain.

Indexed as

Infertility, MaleMeiosisAllelesAnimalsCarrier ProteinsDNA-Binding ProteinsDNA RepairHumansMaleMiceNuclear ProteinsSex ChromosomesCarrier ProteinsDNA-Binding ProteinsNuclear ProteinsTOPBP1 protein, humanTopbp1 protein, mouseATRcell biologychromosomesgene expressionmeiosismouseMSCITOPBP1

Identifiers

PMID38391183
PMCPMC10942628
OpenAlexW4386607414

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.