Evidence map›Paper›PMID 28030792›Full record

ArticleOncotarget2017

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.

Joan Anton Puig-Butille, Pol Gimenez-Xavier, Alessia Visconti, Jérémie Nsengimana, Francisco Garcia-García, Gemma Tell-Marti, Maria José Escamez, Julia Newton-Bishop, Veronique Bataille, Marcela Del Río and 3 more

Open access · diamondAbstract read
In one paragraph

Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 33% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. NIPSNAP protein family emerges as a sensor of mitochondrial health.BioEssays : news and reviews in molecular, cellular and developmental biology · 2021
    Review
  3. Article
  4. 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

13 authors at 6 institutions in 2 countries.

Joan Anton Puig-ButilleBiochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clinic & IDIBAPS, CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Pol Gimenez-XavierDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS, CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Alessia ViscontiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Jérémie NsengimanaSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Francisco Garcia-GarcíaComputational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Gemma Tell-MartiDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS, CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Maria José EscamezDepartamento de Bioingeniería, Universidad Carlos III de Madrid, CIEMAT, IIS-Fundación Jiménez Díaz, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
Julia Newton-BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Veronique BatailleDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Marcela Del RíoDepartamento de Bioingeniería, Universidad Carlos III de Madrid, CIEMAT, IIS-Fundación Jiménez Díaz, CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.
Joaquín DopazoComputational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Mario FalchiDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Susana PuigDermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS, CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Centre for Biomedical Network Research on Rare Diseases · ESKing's College London · GBInstituto de Investigación de Enfermedades Raras · ESUniversity of Leeds · GBCentro de Investigacion Principe Felipe · ESUniversidad Carlos III de Madrid · ES

Funding

Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Cancer Research UK 11963Cancer Research UK 19167NCI NIH HHS R01 CA083115Wellcome Trust
6 · The paper itself

Abstract

The MC1R gene plays a crucial role in pigmentation synthesis. Loss-of-function MC1R variants, which impair protein function, are associated with red hair color (RHC) phenotype and increased skin cancer risk. Cultured cutaneous cells bearing loss-of-function MC1R variants show a distinct gene expression profile compared to wild-type MC1R cultured cutaneous cells. We analysed the gene signature associated with RHC co-cultured melanocytes and keratinocytes by Protein-Protein interaction (PPI) network analysis to identify genes related with non-functional MC1R variants. From two detected networks, we selected 23 nodes as hub genes based on topological parameters. Differential expression of hub genes was then evaluated in healthy skin biopsies from RHC and black hair color (BHC) individuals. We also compared gene expression in melanoma tumors from individuals with RHC versus BHC. Gene expression in normal skin from RHC cutaneous cells showed dysregulation in 8 out of 23 hub genes (CLN3, ATG10, WIPI2, SNX2, GABARAPL2, YWHA, PCNA and GBAS). Hub genes did not differ between melanoma tumors in RHC versus BHC individuals. The study suggests that healthy skin cells from RHC individuals present a constitutive genomic deregulation associated with the red hair phenotype and identify novel genes involved in melanocyte biology.

Indexed as

AdultCoculture TechniquesComputational BiologyGene ExpressionGenetic Predisposition to DiseaseGenomicsHair ColorHumansKeratinocytesMelanocytesMiddle AgedPhenotypeReceptor, Melanocortin, Type 1Receptor, Melanocortin, Type 1autophagyMC1Rmelanocytemelanomared hair phenotype

Identifiers

PMID28030792
PMCPMC5355288
OpenAlexW2565391371

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.