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Networks and pathways in pigmentation, health, and disease

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Abstract Extensive studies of the biology of the pigment‐producing cell (melanocyte) have resulted in a wealth of knowledge regarding the genetics and developmental mechanisms governing skin and hair pigmentation. The ease of identification of altered pigment phenotypes, particularly in mouse coat color mutants, facilitated early use of the pigmentary system in mammalian genetics and development. In addition to the large collection of developmental genetics data, melanocytes are of interest because their malignancy results in melanoma, a highly aggressive and frequently fatal cancer that is increasing in Caucasian populations worldwide. The genetic programs regulating melanocyte development, function, and malignancy are highly complex and only partially understood. Current research in melanocyte development and pigmentation is revealing new genes important in these processes and additional functions for previously known individual components. A detailed understanding of all the components involved in melanocyte development and function, including interactions with neighboring cells and response to environmental stimuli, will be necessary to fully comprehend this complex system. The inherent characteristics of pigmentation biology as well as the resources available to researchers in the pigment cell community make melanocytes an ideal cell type for analysis using systems biology approaches. In this review, the study of melanocyte development and pigmentation is considered as a candidate for systems biology‐based analyses. Copyright © 2009 John Wiley & Sons, Inc. This article is categorized under: Developmental Biology > Lineages

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The majority of genes known to affect melanocyte development and function do not have a defined role in multiple systems and diseases. Although a multitude of genes have known functions in individual melanocyte cellular processes, few have been correlated with multiple processes and/or human diseases. A line between a gene and a cellular process or human disease indicates that the gene has been experimentally demonstrated to have a role in the indicated process/disease. The lines between genes and diseases were validated by the presence of a publication relating to both the disease and gene in question, identified by a PubMed search (http://www.ncbi.nlm.nih.gov/sites/entrez?db=PubMed). “Loss of cells” include WS1‐4, and “Abnormal function” includes albinism, piebaldism, HPS, and CHS. Most functions of the genes in these processes have been discovered on an independent basis using gene‐centric, reductionist research approaches. The absence of multiple roles for many pigmentation genes suggests that a full understanding of all the molecules involved is lacking. In the future, systems‐level analyses will reveal many more functions for each gene, covering this diagram with lines. This figure is not meant to be an exhaustive catalog of melanocyte genes known to date, but rather to represent the current knowledge of gene functions in melanocyte cellular systems.

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Navigational maps of the regulation and downstream targets of (a) MITF, (b) PAX3, and (c) SOX10, three key transcription factors that govern melanocyte development. Illustrated are the pathways known to be active in neural crest‐derived melanoblast precursors, melanoblasts themselves, or mature melanocytes of mammalian organisms. The black triangles represent DNA promoters/enhancers, illustrating direct transcription factor binding; the absence of direct binding illustrates indirect regulation. Pathways that appear unique to melanoma, details of posttranslational modifications, as well as interactions identified in only non‐melanocyte cell types or non‐mammalian systems to date are excluded from this diagram.

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