Developmental abnormalities and epimutations associated with DNA hypomethylation mutations

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations
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DOI:
10.1073/pnas.93.22.12406
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发表时间:
1996-10-29
影响因子:
11.1
通讯作者:
Richards, EJ
Richards, EJ
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Kakutani, T;Jeddeloh, JA;Richards, EJ

文献摘要

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在拟南芥 DNA 低甲基化突变体 ddm1 的重复自花授粉繁殖过程中,发现了许多异常的形态表型,一系列形态异常的发生,包括叶结构、开花时间和花结构的缺陷,与 ddm1 突变密切相关,形态表型在自交 ddm1 突变株系中高频出现,并且一些表型逐渐变得逐渐发生在后代中更加严重。遗传杂交中两种常见形态性状综合征的传递表明,这些表型是由 ddm1 突变体背景中发生的可遗传病变引起的,在 ddm1 突变体中注意到自交过程中特定基因组序列中胞嘧啶甲基化的丢失。讨论了形态异常下病变形成的潜在机制。
A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination, Onset of a spectrum of morphological abnormalities, including defects in leaf structure, flowering time, and flower structure, was strictly associated with the ddm1 mutations, The morphological phenotypes arose at a high frequency in selfed ddm1 mutant lines and some phenotypes became progressively more severe in advancing generations. The transmission of two common morphological trait syndromes in genetic crosses demonstrated that the phenotypes are caused by heritable lesions that develop in ddm1 mutant backgrounds, Loss of cytosine methylation in specific genomic sequences during the selfing regime was noted in the ddm1 mutants. Potential mechanisms for formation of the lesions underlying the morphological abnormalities are discussed.