title: The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases.
abstract: Cutaneous pigmentation is regulated by a complex melanogenic network in which skin cells synthesize growth factors and cytokines. Mutations in genes encoding these regulators modify their expression and/or functionality, leading to altered signaling pathways and contributing to altered skin phenotypes. In this issue, Amyere et al. report a genome-wide analysis of seven families with familial progressive hyperpigmentation and hypopigmentation, identifying three new mutations in KITLG. The study underlines the relevance of investigating candidate genes implicated in the onset of pigmentary disorders. Furthermore, Amyere et al. suggest that different pigmentary diseases can result from the same mutation or different mutations in the same gene, and they offer hope for the development of new and efficacious treatment strategies.
authors.affiliation: Cutaneous Physiopathology and Metabolomic Center, San Gallicano Dermatologic Institute, IRCCS, Rome, Italy. picardo@ifo.it
authors.forename: Mauro
authors.initials: M
authors.lastname: Picardo
authors.forename: Giorgia
authors.initials: G
authors.lastname: Cardinali
mesh_terms: D055106:Genome-Wide Association Study; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology / Q000235:genetics*; D017496:Hypopigmentation / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000502:physiology*; D015398:Signal Transduction; D012880:Skin Pigmentation / Q000235:genetics*; D019089:Stem Cell Factor / Q000235:genetics / Q000502:physiology*
chemical_list: D019089:Stem Cell Factor; D019009:Proto-Oncogene Proteins c-kit