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植物基因组消除过程中的灾难性染色体重组。

Catastrophic chromosomal restructuring during genome elimination in plants.

作者信息

Tan Ek Han, Henry Isabelle M, Ravi Maruthachalam, Bradnam Keith R, Mandakova Terezie, Marimuthu Mohan Pa, Korf Ian, Lysak Martin A, Comai Luca, Chan Simon Wl

机构信息

Department of Plant Biology, University of California, Davis, Davis, United States.

Genome Center, University of California, Davis, Davis, United States.

出版信息

Elife. 2015 May 15;4:e06516. doi: 10.7554/eLife.06516.

DOI:10.7554/eLife.06516
PMID:25977984
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4461816/
Abstract

Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered. Here, we describe extreme chromosomal restructuring during genome elimination, a process resulting from hybridization of Arabidopsis plants expressing different centromere histones H3. Shattered chromosomes are formed from the genome of the haploid inducer, consistent with genomic catastrophes affecting a single, laggard chromosome compartmentalized within a micronucleus. Analysis of breakpoint junctions implicates breaks followed by repair through non-homologous end joining (NHEJ) or stalled fork repair. Furthermore, mutation of required NHEJ factor DNA Ligase 4 results in enhanced haploid recovery. Lastly, heritability and stability of a rearranged chromosome suggest a potential for enduring genomic novelty. These findings provide a tractable, natural system towards investigating the causes and mechanisms of complex genomic rearrangements similar to those associated with several human disorders.

摘要

基因组不稳定与有丝分裂错误及癌症相关。这种现象可导致有害的重排,但也会产生遗传新奇性,许多关于其起源、命运及进化作用的问题仍未得到解答。在此,我们描述了基因组消除过程中的极端染色体重组,这一过程源于表达不同着丝粒组蛋白H3的拟南芥植物杂交。破碎的染色体由单倍体诱导系的基因组形成,这与影响单个落后染色体并被分隔在微核中的基因组灾难相一致。对断点连接的分析表明,断裂后通过非同源末端连接(NHEJ)或停滞叉修复进行修复。此外,必需的NHEJ因子DNA连接酶4的突变导致单倍体回收率提高。最后,重排染色体的遗传性和稳定性表明了持久基因组新奇性的潜力。这些发现为研究与几种人类疾病相关的复杂基因组重排的原因和机制提供了一个易于处理的自然系统。

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