Evidence map›Paper›PMID 38464108›Full record

ArticlebioRxiv : the preprint server for biology2024

Rare SNP in the

Bertha Osei, Benjamin H May, Clara M Stiefel, Kirk L West, Maroof Khan Zafar, Matthew D Thompson, Erik Bergstrom, Justin W Leung, Eric J Enemark, Alicia K Byrd

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Bertha OseiDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Benjamin H MayDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Clara M StiefelDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Kirk L WestDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Maroof Khan ZafarDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Matthew D ThompsonDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Erik BergstromDepartment of Biological Sciences, Missouri University of Science and Technology, Rolla, Missouri, 72205, USA.
Justin W LeungDepartment of Radiation Oncology, University of Texas Health Science Center San Antonio, San Antonio, Texas, 78229, USA.
Eric J EnemarkDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.
Alicia K ByrdDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 72205, USA.ORCID 0000-0001-5484-0759
University of Arkansas for Medical Sciences · USWinthrop Rockefeller Foundation · USMissouri University of Science and Technology · USThe University of Texas Health Science Center at San Antonio · US

Funding

Translational Regulation in Normal Erythropoiesis and Diamond Blackfan AnemiaP20GM121293 · NIGMS · ARKANSAS CHILDREN'S HOSPITAL RES INST · PI Alan Tackett, Sean D. Taverna · 2017 to 2026
$27.6M
Study of the Cell-specific Inflammasome Responses During Defense Against Gram-negative BacteriaP20GM103625 · NIGMS · UNIV OF ARKANSAS FOR MED SCIS · PI SMELTZER, MARK S · 2012 to 2021
$21.5M
Supplement for Google cloud build-outR24GM137786 · NIGMS · UNIV OF ARKANSAS FOR MED SCIS · PI Alan Tackett · 2020 to 2026
$15.4M
Deciphering the chromatin-based DNA damage response pathwayR35GM137798 · NIGMS · UNIV OF ARKANSAS FOR MED SCIS · PI Justin Wai Chung Leung · 2020 to 2026
$2.4M
Mechanistic characterization of the cell cycle-dependent DNA repair pathway- ResubmissionR01CA244261 · NCI · UNIV OF ARKANSAS FOR MED SCIS · PI Justin Wai Chung Leung · 2021 to 2026
$1.5M
NCI NIH HHS R01 CA244261NIGMS NIH HHS P20 GM103625NIGMS NIH HHS P20 GM121293NIGMS NIH HHS R24 GM137786NIGMS NIH HHS R35 GM137798
6 · The paper itself

Abstract

HELB is a human helicase involved in initiation of DNA replication, the replication stress response, and regulation of double-strand DNA break repair. rs75770066 is a rare SNP in the HELB gene that affects age at natural menopause. rs75770066 results in a D506G substitution in an acidic patch within the 1A domain of the helicase that is known to interact with RPA. We found that this amino acid change dramatically impairs the cellular function of HELB. D506G-HELB exhibits impaired interaction with RPA, which likely results in the effects of rs75770066 as this reduces recruitment of HELB to sites of DNA damage. Reduced recruitment of D506G-HELB to double-strand DNA breaks and the concomitant increase in homologous recombination likely alters the levels of meiotic recombination, which affects the viability of gametes. Because menopause occurs when oocyte levels drop below a minimum threshold, altered repair of meiotic double-stranded DNA breaks has the potential to directly affect the age at natural menopause.

Identifiers

PMID38464108
PMCPMC10925333
OpenAlexW4392351513

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.