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Lowell A. Goldsmith, MD

Arch Dermatol. 1997;133(10):1293-1295.

Abstract
Integration, 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 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.

Arch Dermatol. 1997;133:1293-1295

Author Affiliations
From the Department of Dermatology, Boston University School of Medicine, Boston, Mass.

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