蛋氨酸和5-氮杂胞苷对脆性X表达的影响。
The effect of methionine and 5-azacytidine on fragile X expression.
作者信息
Abruzzo M A, Mayer M, Jacobs P A
出版信息
Am J Hum Genet. 1985 Jan;37(1):193-8.
Abstract
The cellular mechanism for the expression of the fragile site at Xq28 is unknown. We tested the effect of 5-azacytidine and methionine on fragile X expression in lymphocytes and lymphoblastoid cells in an attempt to determine if DNA methylation was involved. We were unable to demonstrate a consistent dosage effect of methionine on fragile X expression. While 5-azacytidine was found to inhibit the fragile X in both males and females, it did so only at relatively high concentrations. We conclude that the role, if any, of DNA methylation in fragile X expression is likely to be secondary, the primary effect being due to thymidylate depletion.
摘要
Xq28处脆性位点表达的细胞机制尚不清楚。我们测试了5-氮杂胞苷和蛋氨酸对淋巴细胞和淋巴母细胞中脆性X表达的影响，试图确定DNA甲基化是否参与其中。我们未能证明蛋氨酸对脆性X表达有一致的剂量效应。虽然发现5-氮杂胞苷在男性和女性中均能抑制脆性X，但仅在相对较高的浓度下才会如此。我们得出结论，DNA甲基化在脆性X表达中的作用（如果有）可能是次要的，主要作用是由于胸苷酸耗竭。
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[Metabolism of monocarbons and the fragile X syndrome].[单碳代谢与脆性X综合征]
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Folate metabolism in humans.人类的叶酸代谢
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Folate, methionine, and the fragile X chromosome.叶酸、蛋氨酸与脆性X染色体
Am J Hum Genet. 1984 Mar;36(2):477-80.
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On the nature of folic-acid-sensitive fragile sites in human chromosomes: an hypothesis.关于人类染色体中叶酸敏感脆性位点的性质：一种假说。
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The fragile X chromosome.脆性X染色体
Int Rev Cytol. 1983;81:107-43. doi: 10.1016/s0074-7696(08)62336-0.
7
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