In vivo reversion to normal of inherited mutations in humans.
There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.
Hirschhorn
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Medicine, Cell Biology & Pediatrics, New York University School of Medicine, 550 First Ave CD612, New York, NY 10016, USA. hirscr01@med.nyu.edu
D000243:Adenosine Deaminase / Q000172:deficiency; D001816:Bloom Syndrome / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D011995:Recombination, Genetic; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D020176:Tyrosinemias / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics
D000243:Adenosine Deaminase