Am J Hum Genet 2021 Jun 17;108(6):1026-1039. Epub 2021 May 17.
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan; Department of Dermatology, Faculty of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan. Electronic address:
Revertant mosaicism, or "natural gene therapy," refers to the spontaneous in vivo reversion of an inherited mutation in a somatic cell. Only approximately 50 human genetic disorders exhibit revertant mosaicism, implicating a distinctive role played by mutant proteins in somatic correction of a pathogenic germline mutation. However, the process by which mutant proteins induce somatic genetic reversion in these diseases remains unknown. Read More