title: Identification of Genes Expressed in Hyperpigmented Skin Using Meta-Analysis of Microarray Data Sets.
abstract: More than 375 genes have been identified that are involved in regulating skin pigmentation and these act during development, survival, differentiation, and/or responses of melanocytes to the environment. Many of these genes have been cloned, and disruptions of their functions are associated with various pigmentary diseases; however, many remain to be identified. We have performed a series of microarray analyses of hyperpigmented compared with less pigmented skin to identify genes responsible for these differences. The rationale and goal for this study was to perform a meta-analysis on these microarray databases to identify genes that may be significantly involved in regulating skin phenotype either directly or indirectly that might not have been identified due to subtle differences by any of these individual studies alone. The meta-analysis demonstrates that 1,271 probes representing 921 genes are differentially expressed at significant levels in the 5 microarray data sets compared, providing new insights into the variety of genes involved in determining skin phenotype. Immunohistochemistry was used to validate two of these markers at the protein level (TRIM63 and QPCT), and we discuss the possible functions of these genes in regulating skin physiology.
authors.affiliation: Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Lanlan
authors.initials: L
authors.lastname: Yin
authors.affiliation: Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Sergio G
authors.initials: SG
authors.lastname: Coelho
authors.affiliation: Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Julio C
authors.initials: JC
authors.lastname: Valencia
authors.affiliation: Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Dominik
authors.initials: D
authors.lastname: Ebsen
authors.affiliation: R&D Skin Research, Beiersdorf AG, Hamburg, Germany.
authors.forename: Andre
authors.initials: A
authors.lastname: Mahns
authors.affiliation: R&D Skin Research, Beiersdorf AG, Hamburg, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Smuda
authors.affiliation: Center for Devices and Radiological Health, Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Miller
authors.affiliation: Center for Devices and Radiological Health, Food and Drug Administration, Silver Spring, Maryland, USA.
authors.forename: Janusz Z
authors.initials: JZ
authors.lastname: Beer
authors.affiliation: R&D Skin Research, Beiersdorf AG, Hamburg, Germany. Electronic address: Ludger.Kolbe@Beiersdorf.com.
authors.forename: Ludger
authors.initials: L
authors.lastname: Kolbe
authors.affiliation: Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Vincent J
authors.initials: VJ
authors.lastname: Hearing
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D030541:Databases, Genetic; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D046228:Microarray Analysis; D009124:Muscle Proteins / Q000235:genetics*; D015203:Reproducibility of Results; D012880:Skin Pigmentation / Q000235:genetics; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D015854:Up-Regulation
chemical_list: D002352:Carrier Proteins; D009124:Muscle Proteins; D000070584:Tripartite Motif Proteins; C027208:ubiquinone-binding proteins; C440908:TRIM63 protein, human; D044767:Ubiquitin-Protein Ligases