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[해외논문] Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion 원문보기

Cell, v.88 no.4, 1997년, pp.543 - 551  

Jonkman, Marcel F (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) ,  Scheffer, Hans (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) ,  Stulp, Rein (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) ,  Pas, Hendri H (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) ,  Nijenhuis, Miranda (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) ,  Heeres, Klaas (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) ,  Owaribe, Katsushi (Department of Molecular Biology, Nagoya University School of Medicine, Nagoya-Shi 464–) ,  Pulkkinen, Leena (01, Japan) ,  Uitto, Jouni (Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA)

Abstract AI-Helper 아이콘AI-Helper

AbstractMitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic...

참고문헌 (36)

  1. Nature Cavenee 305 779 1983 10.1038/305779a0 Expression of recessive alleles by chromosomal mechanisms in retinoblastoma 

  2. Genomics Christiano 21 160 1994 10.1006/geno.1994.1238 Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa 

  3. J. Am. Acad. Dermatol. Fine 24 119 1991 10.1016/0190-9622(91)70021-S Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry 

  4. EMBO J. Gangloff 15 1715 1996 10.1002/j.1460-2075.1996.tb00517.x Gene conversion plays the major role in controlling the stability of large tandem repeats in yeasts 

  5. Proc. Natl. Acad. Sci. USA Ganguly 90 10325 1993 10.1073/pnas.90.21.10325 Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments 

  6. Am. J. Hum. Genet. Gatalica 60 352 1997 Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa 

  7. J. Invest. Dermatol. Giudice 99 243 1992 10.1111/1523-1747.ep12616580 Cloning and primary structural analysis of the bullous pemhigoid autoantigen BP180 

  8. Nature Genet. Gyapay 7 246 1994 10.1038/ng0694supp-246 The 1993-94 Genethon human genetic linkage map 

  9. Am. J. Hum. Genet. Hall 43 355 1988 Review and hypotheses 

  10. Understanding the patterns and mechanisms. Arch. Dermatol. Happle 129 1460 1993 10.1001/archderm.1993.01680320094012 Mosaicism in human skin 

  11. Arch. Dermatol. Hintner 118 375 1982 10.1001/archderm.1982.01650180009008 Generalized atrophic benign epidermolysis bullosa 

  12. Nature Genet. Hirschhorn 13 290 1996 10.1038/ng0796-290 Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency 

  13. J. Neurol. Sci. Hoffman 99 9 1990 10.1016/0022-510X(90)90195-S Somatic reversion/suppresion of the mouse mdx phenotype in vivo 

  14. J. Invest. Dermatol. Jonkman 99 489 1992 10.1111/1523-1747.ep12616168 Expression of integrin α6β4 in junctional epidermolysis bullosa 

  15. J. Clin. Invest. Jonkman 95 1345 1995 10.1172/JCI117785 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa 

  16. Arch. Dermatol. Jonkman 132 145 1996 10.1001/archderm.1996.03890260047007 Generalized atrophic benign epidermolysis bullosa 

  17. Am. J. Hum. Genet. Klein 50 950 1992 Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) 

  18. Trends Genet. Kourilsky 2 60 1986 10.1016/0168-9525(86)90179-4 Molecular mechanisms for gene conversion in higher cells 

  19. J. Clin. Invest. Kvittingen 94 1657 1994 10.1172/JCI117509 Self-induced correction of the genetic defect in tyrosinemia type I 

  20. J. Biol. Chem. Li 266 24064 1991 10.1016/S0021-9258(18)54393-3 Genomic organization of collagenous domains and chromosomal assignment of human 180 kD bullous pemphigoid antigen (BPAG2), a novel collagen of stratified squamous epithelium 

  21. J. Biol. Chem. Li 268 8825 1993 10.1016/S0021-9258(18)52948-3 

  22. Nature Genet. McGrath 11 83 1995 10.1038/ng0995-83 Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa 

  23. J. Invest. Dermatol. McGrath 106 771 1996 10.1111/1523-1747.ep12345821 A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa 

  24. Nucleic Acids Res. Miller 16 1215 1989 10.1093/nar/16.3.1215 A simple salting out procedure for extracting DNA from human nucleated cells 

  25. Mitra 17 1994 Keratinocyte Methods Cultivation of human epidermal keratinocytes in serum-free growth medium 

  26. J. Biochem. (Tokyo) Nishizawa 113 493 1993 10.1093/oxfordjournals.jbchem.a124072 HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome 

  27. Online Mendelian Inheritance in Man, OMIM (TM). (1996). Johns Hopkins University, Baltimore, MD. MIM number: 201910: 11/14/1996. World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/ 

  28. Exp. Cell Res. Owaribe 192 622 1991 10.1016/0014-4827(91)90084-8 Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells 

  29. New Eng. J. Med. Paller 331 1408 1994 10.1056/NEJM199411243312103 Genetic and clinical mosaicism in a type of epidermal nevus 

  30. Exp. Dermatol. Pas 4 372 1995 10.1111/j.1600-0625.1995.tb00062.x Bullous pemphigoid 

  31. Exp. Dermatol. Pohla-Gubo 4 199 1995 10.1111/j.1600-0625.1995.tb00245.x 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 

  32. Am. J. Hum. Genet. Sherratt 53 1007 1993 Exon skipping and translation in patients with frame shift deletions in the dystrophin gene 

  33. Phil. Trans. R. Soc. Lond. Smithies 312 291 1986 10.1098/rstb.1986.0008 Gene conversions and their relation to homologous chromosome pairing 

  34. J. Theor. Biol. Unrau 177 73 1995 10.1006/jtbi.1995.0226 Can tetraplex recombination models explain observations in induced mitotic gene conversion 

  35. Mol. Cell. Biol. Urlaub 9 2868 1989 10.1128/MCB.9.7.2868 Nonsense mutations in the dihydrofolate reductase gene affect RNA processing 

  36. Proc. Natl. Acad. Sci. USA Van Leeuwen 86 6417 1989 10.1073/pnas.86.16.6417 Age-related development of a heterozygous phenotype in solitary neurons of the homozygous Brattleboro rat 

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