title: Genetic skin diseases with altered aging.
abstract: Integration, homeostasis, and redundancy of function are hallmarks of important biological processes. Individual gene defects may overcome and override normal homeostatic systems and lead to dramatic, recognizable phenotypes by profoundly altering 1 or more physiological systems. Classical human geneticists interested in a monogenetic disease began at the level of altered function and struggled to determine the genomic defect of that disease. In the past 1 1/2 decades, many monogenetic defects have been identified by positional cloning, and the abnormal gene has been characterized. A challenge for current investigators is to understand how a genetic defect, identified by a DNA mutation, leads to the altered phenotype. This effort is not trivial, since there are multiple metabolic and structural consequences of a single altered gene. Further complexity results from individual genetic changes being modified by the genetic diversity of the human host. Pleiotropy refers to the phenomenon of multiple phenotypic effects of a single gene.
authors.affiliation: Department of Dermatology, Boston University School of Medicine, Mass., USA.
authors.forename: L A
authors.initials: LA
authors.lastname: Goldsmith
mesh_terms: D000375:Aging / Q000235:genetics*; D003001:Cloning, Molecular; D003057:Cockayne Syndrome / Q000235:genetics; D004247:DNA / Q000235:genetics; D005796:Genes / Q000235:genetics; D014644:Genetic Variation; D016678:Genome; D005838:Genotype; D006706:Homeostasis / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012873:Skin Diseases, Genetic / Q000235:genetics*; D014898:Werner Syndrome / Q000235:genetics
chemical_list: D004247:DNA