Revertant mosaicism in human genetic disorders

American Journal of Medical Genetics

Volumn 85, Issue 4, 1999, Pages 361-364

  Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Mosaicism; Reverse mutation; Review; Skin

Indexed keywords

ADENOSINE DEAMINASE; COLLAGEN; DYSTROPHIN; FUMARYLACETOACETASE; VASOPRESSIN;

ALLELE; ARTICLE; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; MOSAICISM; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVERTANT;

ADULT; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MOSAICISM; MUTATION; SKIN;

EID: 0032777852     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990806)85:4<361::AID-AJMG11>3.0.CO;2-E     Document Type: Article

References (29)

1. Brunner HG, Janssen G, Nillesen W, Nelen MR, de Die CEM, Höweler CJ, van Oost BA, Wieringa B, Ropers H-H, Smeets HJM. 1993. Brief report: Reverse mutation in myotonic dystrophy. N Eng J Med 328:476-480.
2. Cole Strauss A, Nöe A, Kmiec EB. 1997. Recombinational repair of genetic mutations. Antisense Nucleic Acid Drug Dev 7:211-216.
3. Darling T, Yee C, Bauer JW, Hintner H, Yancey K. 1998. Genetic mosaicism demonstrated using laser capture microdissection: Partial correction of a germline mutation by a second mutation in COL17A1. J Invest Dermatol 110:474 [abstract].
4. Darwin C. 1868. Variation in animals and plants under domestication. London: John Murray.
5. De Vries H. 1910. The mutation theory; experiments and observations on the origin of species in the vegetable kingdom. Chicago: The Open Court Publishing Company.
6. Ellis NA, Lennon DJ, Proytcheva M, Alhadeff B, Henderson EE, German J. 1995. Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet 57:1019-1027.
7. Green MM. 1959. Reverse mutation in Drosophila and the status of the particulate gene. Genetics 29:1.
8. Green MM. 1967. The genetics of a mutable gene at the white locus of Drosophila melanogaster. Genetics 56:467-482.
9. Hall JG. 1988. Review and hypotheses: Somatic mosaicism: Observations related to clinical genetics. Am J Hum Genet 43:355-363.
10. Happle R. 1993. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 129:1460-1470.
11. Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang C-K, Kurlandsky EL. 1996. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet 13:290-295.
12. Hoffman EP, Morgan JE, Watkins SC, Partridge TA. 1990. Somatic reversion/suppresion of the mouse mdx phenotype in vivo. J Neurol Sci 99: 9-25.
13. Jonkman MF, De Jong MCJM, Heeres K, Steijlen P, Owaribe K, Küster W, Meurer M, Gedde-Dahl TJ, Sonnenberg A, Bruckner-Tuderman L. 1996. Generalized atrophic benign epidermolysis bullosa: Either 180-kD bullous pemphigoid antigen (BP180) or laminin-5 is deficient. Arch Dermatol 132:145-150.
14. Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J. 1997. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell 88:543-551.
15. Klein CJ, Coovert DD, Bulman DE, Ray PN, Mendell JR, Burghes AHM. 1992. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 50:950-959.
16. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. 1994. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94:1657-1661.
17. Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJP, Van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwer F, Joenje H. 1997. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Human Genet 5:137-148.
18. McClintock B. 1948. Mutable loci in maize. Carnegie Inst Wash Year Book 47:155-169.
19. McClintock B. 1987. The discovery and characterization of transposable elements: The collected papers of Barbara McClintock. New York: Garland Pub.
20. McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey KB, Uitto J. 1996. A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 106:771-774.
21. Paller AS, Syder AJ, Chan Y-M, Yu Q-C, Hutton E, Tadini G, Fuchs E. 1994. Genetic and clinical mosaicism in a type of epidermal nevus. N Eng J Med 331:1408-1415.
22. Peterson P. 1953. A mutable pale green locus in maize. Genetics 38:682-683.
23. Pohla-Gubo G, Lazarova Z, Giudice GJ, Liebert M, Grasegger A, Hintner H, Yancey KB. 1995. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 4:199-206.
24. Rieger R, Michaelis A, Green MM. 1976. Glossary of Genetics and Cytogenetics: Classical and Molecular, 4th edition. Berlin, Heidelberg, New York: Springer, p 478.
25. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. 1995. Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56:444-451.
26. Schiestl RH, Khogali F, Carls N. 1994. Reversion of the mouse pink-eyed unstable mutation induced by low doses of X-rays. Science 266:1573-1576.
27. Sherratt TG, Vulliamy V, Dubowitz V, Sewry CA, Strong PN. 1993. Exon skipping and translation in patients with frame shift deletions in the dystrophin gene. Am J Hum Genet 53:1007-1015.
28. Trudel M, Chrétien N, D'Agati V. 1994. Disappearance of polycystic kidney disease in revertant c-myc transgenic mice. Mamm Genome 5:149-152.
29. Van Leeuwen F, Van der Beek E, Seger M, Burbach P, Ivell R. 1989. Age-related development of a heterozygous phenotype in solitary neurons of the homozygous Brattleboro rat. Proc Natl Acad Sci USA 86: 6417-6420.