Evidence map›Paper›PMID 33739555›Full record

ArticleHuman mutation2021

Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.

Przemyslaw Szafranski, Tomasz Gambin, Justyna A Karolak, Edwina Popek, Paweł Stankiewicz

Open access · greenAbstract read
In one paragraph

Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.4field-weighted citation impact, top 10% 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

12 citing papers in PubMed, 30 citations in OpenAlex.

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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 3 institutions in 2 countries.

Przemyslaw SzafranskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Justyna A KarolakChair and Department of Genetics and Pharmaceutical Microbiology, Poznań University of Medical Sciences, Poznań, Poland.
Edwina PopekDepartment of Pathology and Immunology, Baylor College of Medicine, Houston, Texas, USA.
Paweł StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-6456-7490
Baylor College of Medicine · USPoznan University of Medical Sciences · PLWarsaw University of Technology · PL

Funding

Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI Michael M Ittmann · 2007 to 2026
$73.9M
Epigenomic dysfunction at 16q24.1 vascular defects and perinatal consequencesR01HL137203 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI STANKIEWICZ, PAWEL · 2017 to 2020
$2.0M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600k
NCI NIH HHS P30 CA125123NHLBI NIH HHS R01 HL137203NIH HHS S10 OD023469
6 · The paper itself

Abstract

The FOXF1 gene, causative for a neonatal lethal lung developmental disorder alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), maps 1.7 kb away from the long noncoding RNA gene FENDRR on the opposite strand, suggesting they may be coregulated. Using RNA sequencing in lung tissue from ACDMPV patients with heterozygous deletions of the FOXF1 distant enhancer located 286 kb upstream, leaving FOXF1 and FENDRR intact, we have found that the FENDRR and FOXF1 expressions were reduced by approximately 75% and 50%, respectively, and were monoallelic from the intact chromosome 16q24.1. In contrast, ACDMPV patients with FOXF1 SNVs had biallelic FENDRR expression reduced by 66%-82%. Corroboratively, depletion of FOXF1 by small interfering RNA in lung fibroblasts resulted in a 50% decrease of FENDRR expression. These data indicate that FENDRR expression in the lungs is regulated both in cis by the FOXF1 distant enhancer and in trans by FOXF1. Our findings are compatible with the involvement of FENDRR in FOXF1-related disorders, including ACDMPV.

Indexed as

Case-Control StudiesEnhancer Elements, GeneticFemaleForkhead Transcription FactorsFrameshift MutationGene Expression RegulationGenetic Predisposition to DiseaseHumansInfant, NewbornLungMaleMutation, MissenseOrgan SpecificityPersistent Fetal Circulation SyndromePolymorphism, Single NucleotidePregnancyForkhead Transcription FactorsFOXF1 protein, humanRNA, Long NoncodingCNV deletioncongenital lung disorderdivergent genesSNVvascular development

Identifiers

PMID33739555
PMCPMC8284783
OpenAlexW3137975297

What OpenQuestion holds

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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.