Evidence map›Paper›PMID 34107974›Full record

ArticleBMC medical genomics2021

Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.

Trenell J Mosley, H Richard Johnston, David J Cutler, Michael E Zwick, Jennifer G Mulle

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.9field-weighted citation impact, top 24% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

Trenell J MosleyGraduate Program in Genetics and Molecular Biology, Laney Graduate School, Emory University, 201 Dowman Drive, Atlanta, GA, 30322, USA.
H Richard JohnstonDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Building Suite 300, Atlanta, GA, 30322, USA.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Building Suite 300, Atlanta, GA, 30322, USA.
Michael E ZwickDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Building Suite 300, Atlanta, GA, 30322, USA.
Jennifer G MulleDepartment of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Building Suite 300, Atlanta, GA, 30322, USA. jmulle@emory.edu.ORCID 0000-0001-8593-8468
Emory University · US

Funding

Implementing a Maternal health and PRegnancy Outcomes Vision for Everyone (IMPROVE)UL1TR002378 · NCATS · EMORY UNIVERSITY · PI Andres J Garcia, Elizabeth O. Ofili · 2017 to 2026
$92.1M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
Modeling the Human Neuronal Phenotype of the Schizophrenia-Associated 3q29 deletionR01MH110701 · NIMH · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI MULLE, JENNIFER GLADYS · 2017 to 2021
$3.2M
Treasure Your Exceptions: Investigating Rare Diseases Using Whole-Genome Sequencing and Molecular Functional StudiesF31GM131609 · NIGMS · EMORY UNIVERSITY · PI MOSLEY, TRENELL · 2019 to 2021
$128k
NCATS NIH HHS UL1 TR002378NCATS NIH HHS UL1TR002378NIGMS NIH HHS F31 GM131609NIGMS NIH HHS F31GM131609NIGMS NIH HHS T32 GM008490NIGMS NIH HHS T32GM008490NIMH NIH HHS 1R01MH110701-01A1NIMH NIH HHS R01 MH110701
6 · The paper itself

Abstract

backgroundStructural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurrent pathogenic CNVs harbor similar breakpoints in multiple unrelated individuals and are primarily formed via non-allelic homologous recombination (NAHR). Several pathogenic NAHR-mediated recurrent CNV loci demonstrate biases for parental origin of de novo CNVs. However, the mechanism underlying these biases is not well understood.

methodsWe performed a systematic, comprehensive literature search to curate parent of origin data for multiple pathogenic CNV loci. Using a regression framework, we assessed the relationship between parental CNV origin and the male to female recombination rate ratio.

resultsWe demonstrate significant association between sex-specific differences in meiotic recombination and parental origin biases at these loci (p = 1.07 × 10

conclusionsOur results suggest that parental origin of CNVs is largely influenced by sex-specific recombination rates and highlight the need to consider these differences when investigating mechanisms that cause structural variation.

Indexed as

DNA Copy Number VariationsFemaleGenome, HumanGenomicsHomologous RecombinationHumansMaleMeiosisRecombination, GeneticSex Factors3q29 deletionCopy number variantsMeiotic recombinationParent of origin

Identifiers

PMID34107974
PMCPMC8190997
OpenAlexW3167803013

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Registered trials

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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.