title: Making the invisible visible.
abstract: In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.
authors.affiliation: Institute of Medical Biology, Singapore; Division of Cancer Research, School of Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, United Kingdom. Electronic address: maurice.vansteensel@imb.a-star.edu.sg.
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
mesh_terms: D000818:Animals; D006801:Humans; D020460:Melanosomes / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D012871:Skin Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D012880:Skin Pigmentation / Q000235:genetics*
keywords: Genetic; Genodermatosis; Pigment; Pigmentation; Skin