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

TitleGenomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.
Publication TypeJournal Article
Year of Publication2017
AuthorsPuig-Butille, JAnton, Gimenez-Xavier, P, Visconti, A, Nsengimana, J, Garcia-Garcia, F, Tell-Marti, G, Escamez, MJosé, Newton-Bishop, J, Bataille, V, Del Rio, M, Dopazo, J, Falchi, M, Puig, S
JournalOncotarget
Volume8
Issue7
Pagination11589-11599
Date Published2017 Feb 14
ISSN1949-2553
KeywordsAdult; Coculture Techniques; Computational Biology; gene expression; Genetic Predisposition to Disease; Genomics; Hair Color; Humans; Keratinocytes; Melanocytes; Middle Aged; Phenotype; Receptor, Melanocortin, Type 1
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.

URLhttp://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=14140&path%5B%5D=45094
DOI10.18632/oncotarget.14140
Alternate JournalOncotarget
PubMed ID28030792
PubMed Central IDPMC5355288
Grant ListR01 CA083115 / CA / NCI NIH HHS / United States