| Antifolate-induced misincorporation of deoxyuridine monophosphate into DNA by cells from patients with the fragile X syndrome. | |
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MedLine Citation:
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PMID: 2992271 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile site at Xq27 is expressed in vitro under conditions that lead to decreased intracellular thymidine triphosphate concentration, a condition which has also been shown to promote the misincorporation into DNA of deoxyuridine monophosphate (dUMP) in place of thymidine. We tested for increased whole-cell misincorporation of dUMP as a possible molecular mechanism for the expression of the fragile X abnormality. Neither deoxyuridine triphosphatase nor uracil-DNA-glycosylase, the two enzymes that normally prevent the accumulation of dUMP in DNA, was deficient in fragile X syndrome cells. Misincorporation of dUMP occurred in comparably low levels in both normal and fragile X syndrome lymphoblasts. Although these results provide strong evidence against generalized misincorporation of dUMP in fragile X syndrome cells, a substantial real difference present at Xq27 might not be detected in these studies of whole cells containing the diploid chromosome complement. |
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Authors:
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J C Wang; G P Beardsley; R W Erbe |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 21 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1985 Aug |
Date Detail:
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Created Date: 1985-09-24 Completed Date: 1985-09-24 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 691-6 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cells, Cultured DNA / biosynthesis* DNA Glycosylases* Deoxyuracil Nucleotides / metabolism* Floxuridine / pharmacology Folic Acid Antagonists / pharmacology* Fragile X Syndrome / genetics*, metabolism Humans Lymphocytes / metabolism Male N-Glycosyl Hydrolases / metabolism Pyrimethamine / analogs & derivatives, pharmacology Pyrophosphatases / metabolism Sex Chromosome Aberrations / genetics* Uracil-DNA Glycosidase |
| Grant Support | |
ID/Acronym/Agency:
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5 T32 GM07748/GM/NIGMS NIH HHS; HD06356/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Deoxyuracil Nucleotides; 0/Folic Acid Antagonists; 50-91-9/Floxuridine; 58-14-0/Pyrimethamine; 7761-45-7/methodichlorophen; 9007-49-2/DNA; 964-26-1/2'-deoxyuridylic acid; EC 3.2.2.-/DNA Glycosylases; EC 3.2.2.-/N-Glycosyl Hydrolases; EC 3.2.2.-/Uracil-DNA Glycosidase; EC 3.6.1.-/Pyrophosphatases; EC 3.6.1.23/dUTP pyrophosphatase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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