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

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 express...

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Autores: Puig Butillé, Joan Anton, Gimenez-Xavier, Pol, Visconti, Alessia, Nsengimana, Jérémie, Garcia-García, Francisco, Tell Martí, Gemma, Escamez, Maria José, Newton-Bishop, Julia A., Bataille, Veronique, Río, Marcela del, Dopazo, Joaquín, Falchi, Mario, Puig i Sardà, Susana
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/110266
Acceso en línea:https://hdl.handle.net/2445/110266
Access Level:acceso abierto
Palabra clave:Autofàgia
Melanoma
Fisiologia cel·lular
Genètica humana
Bioinformàtica
Autophagy
Cell physiology
Human genetics
Bioinformatics
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spelling Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.Puig Butillé, Joan AntonGimenez-Xavier, PolVisconti, AlessiaNsengimana, JérémieGarcia-García, FranciscoTell Martí, GemmaEscamez, Maria JoséNewton-Bishop, Julia A.Bataille, VeroniqueRío, Marcela delDopazo, JoaquínFalchi, MarioPuig i Sardà, SusanaAutofàgiaMelanomaFisiologia cel·lularGenètica humanaBioinformàticaAutophagyMelanomaCell physiologyHuman geneticsBioinformaticsThe 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.Impact Journals2017201720162017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion11 p.application/pdfhttps://hdl.handle.net/2445/110266Articles publicats en revistes (Medicina)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.18632/oncotarget.14140Oncotarget, 2016, vol. 8, num. 7, p. 11589-11599https://doi.org/10.18632/oncotarget.14140cc-by (c) Puig Butillé, Joan Anton et al., 2016http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:recercat.cat:2445/1102662026-05-29T05:05:01Z
dc.title.none.fl_str_mv Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
title Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
spellingShingle Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
Puig Butillé, Joan Anton
Autofàgia
Melanoma
Fisiologia cel·lular
Genètica humana
Bioinformàtica
Autophagy
Melanoma
Cell physiology
Human genetics
Bioinformatics
title_short Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
title_full Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
title_fullStr Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
title_full_unstemmed Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
title_sort Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
dc.creator.none.fl_str_mv Puig Butillé, Joan Anton
Gimenez-Xavier, Pol
Visconti, Alessia
Nsengimana, Jérémie
Garcia-García, Francisco
Tell Martí, Gemma
Escamez, Maria José
Newton-Bishop, Julia A.
Bataille, Veronique
Río, Marcela del
Dopazo, Joaquín
Falchi, Mario
Puig i Sardà, Susana
author Puig Butillé, Joan Anton
author_facet Puig Butillé, Joan Anton
Gimenez-Xavier, Pol
Visconti, Alessia
Nsengimana, Jérémie
Garcia-García, Francisco
Tell Martí, Gemma
Escamez, Maria José
Newton-Bishop, Julia A.
Bataille, Veronique
Río, Marcela del
Dopazo, Joaquín
Falchi, Mario
Puig i Sardà, Susana
author_role author
author2 Gimenez-Xavier, Pol
Visconti, Alessia
Nsengimana, Jérémie
Garcia-García, Francisco
Tell Martí, Gemma
Escamez, Maria José
Newton-Bishop, Julia A.
Bataille, Veronique
Río, Marcela del
Dopazo, Joaquín
Falchi, Mario
Puig i Sardà, Susana
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Autofàgia
Melanoma
Fisiologia cel·lular
Genètica humana
Bioinformàtica
Autophagy
Melanoma
Cell physiology
Human genetics
Bioinformatics
topic Autofàgia
Melanoma
Fisiologia cel·lular
Genètica humana
Bioinformàtica
Autophagy
Melanoma
Cell physiology
Human genetics
Bioinformatics
description 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.
publishDate 2016
dc.date.none.fl_str_mv 2016
2017
2017
2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/110266
url https://hdl.handle.net/2445/110266
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.18632/oncotarget.14140
Oncotarget, 2016, vol. 8, num. 7, p. 11589-11599
https://doi.org/10.18632/oncotarget.14140
dc.rights.none.fl_str_mv cc-by (c) Puig Butillé, Joan Anton et al., 2016
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Puig Butillé, Joan Anton et al., 2016
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 11 p.
application/pdf
dc.publisher.none.fl_str_mv Impact Journals
publisher.none.fl_str_mv Impact Journals
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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