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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Garey, J. R. Articles by Kushner, J. P. Search for Related Content PubMed PubMed Citation Articles by Garey, J. R. Articles by Kushner, J. P. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda JR Garey, JL Hansen, LM Harrison, JB Kennedy and JP Kushner Division of Hematology/Oncology, University of Utah Medical Center, Salt Lake City 84132. Familial porphyria cutanea tarda (PCT) is inherited as an autosomal dominant trait caused by decreased activity of uroporphyrinogen decarboxylase (URO-D). In most families with PCT, URO-D mRNA levels are normal but both catalytic activity and immunologic reactivity of URO-D are half normal. We have cloned and sequenced 8 URO-D cDNA transcripts derived from a pedigree member with familial PCT. Three of the cDNAs had sequences encoding normal URO-D but five cDNA's contained a point mutation resulting in a gly----val substitution at amino acid position 281. An oligonucleotide probe complementary to the mutant sequence hybridized to DNA from affected individuals within the pedigree, but not to DNA from normal individuals. Measurements of pulse labeled URO-D in Epstein-Barr virus transformed lymphocytes indicated that the mutant protein has a half-life in vivo of less than four hours. In vitro measurements utilizing labeled URO-Ds generated in a reticulocyte lysate system revealed a 12-hour half-life for the mutant protein compared with a 102-hour half-life for normal URO-D. This is the first URO-D mutation to be characterized in a pedigree with familial PCT. This mutation was not detected in affected individuals from seven other PCT pedigrees, suggesting that PCT can result from different mutations. Volume 73, Issue 4, pp. 892-895, 03/01/1989 Copyright © 1989 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Ged, D. Ozalla, C. Herrero, M. Lecha, M. Mendez, H. de Verneuil, and J. M. Mascaro Description of a New Mutation in Hepatoerythropoietic Porphyria and Prenatal Exclusion of a Homozygous Fetus Arch Dermatol, July 1, 2002; 138(7): 957 - 960. [Abstract] [Full Text] [PDF] J. D. Phillips, T. L. Parker, H. L. Schubert, F. G. Whitby, C. P. Hill, and J. P. Kushner Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase Blood, December 1, 2001; 98(12): 3179 - 3185. [Abstract] [Full Text] [PDF] J. D. Phillips, L. K. Jackson, M. Bunting, M. R. Franklin, K. R. Thomas, J. E. Levy, N. C. Andrews, and J. P. Kushner A mouse model of familial porphyria cutanea tarda PNAS, December 22, 2000; (2000) 11481398. [Abstract] [Full Text] J. D. Phillips, L. K. Jackson, M. Bunting, M. R. Franklin, K. R. Thomas, J. E. Levy, N. C. Andrews, and J. P. Kushner A mouse model of familial porphyria cutanea tarda PNAS, January 2, 2001; 98(1): 259 - 264. [Abstract] [Full Text] [PDF]

	Copyright © 1989 by American Society of Hematology         Online ISSN: 1528-0020