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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.

PMID:2579550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684555/
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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本文引用的文献

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Fragile sites in human chromosomes I. The effect of methionine on the Xq fragile site.
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The combined effects of FUdR addition and methionine depletion on the X-chromosome fragile site.氟尿苷添加和蛋氨酸耗竭对X染色体脆性位点的联合作用。
Am J Hum Genet. 1983 Jan;35(1):117-22.
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Expression of the marker (X) (q28) in lymphoblastoid cell lines.标记物(X)(q28)在淋巴母细胞系中的表达。
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Fragile X expression suppressed in either FUdR or methotrexate treated fibroblasts by pretreatment with 5-azacytidine.
Am J Med Genet. 1984 Jan;17(1):255-7. doi: 10.1002/ajmg.1320170117.
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5-azacytidine decreases the frequency of fragile X expression in peripheral lymphocyte culture.
Am J Med Genet. 1984 Jan;17(1):253-4. doi: 10.1002/ajmg.1320170116.

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