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Subspecific origin and haplotype diversity in the laboratory mouse.实验室小鼠的亚种起源和单倍型多样性。
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A SNP associated with alternative splicing of RPT5b causes unequal redundancy between RPT5a and RPT5b among Arabidopsis thaliana natural variation.一个与 RPT5b 可变剪接相关的 SNP 导致拟南芥自然变异中 RPT5a 和 RPT5b 之间的不等冗余。
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通过重测序拟南芥 Landsberg erecta 及其单减数分裂的全部四个产物,分析减数分裂前后和减数分裂重组的拟南芥全基因组变异。

Analysis of Arabidopsis genome-wide variations before and after meiosis and meiotic recombination by resequencing Landsberg erecta and all four products of a single meiosis.

机构信息

Department of Biology and the Huck Institutes of the Life Sciences, the Pennsylvania State University, University Park, PA 16802, USA.

出版信息

Genome Res. 2012 Mar;22(3):508-18. doi: 10.1101/gr.127522.111. Epub 2011 Nov 21.

DOI:10.1101/gr.127522.111
PMID:22106370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3290786/
Abstract

Meiotic recombination, including crossovers (COs) and gene conversions (GCs), impacts natural variation and is an important evolutionary force. COs increase genetic diversity by redistributing existing variation, whereas GCs can alter allelic frequency. Here, we sequenced Arabidopsis Landsberg erecta (Ler) and two sets of all four meiotic products from a Columbia (Col)/Ler hybrid to investigate genome-wide variation and meiotic recombination at nucleotide resolution. Comparing Ler and Col sequences uncovered 349,171 Single Nucleotide Polymorphisms (SNPs), 58,085 small and 2315 large insertions/deletions (indels), with highly correlated genome-wide distributions of SNPs, and small indels. A total of 443 genes have at least 10 nonsynonymous substitutions in protein-coding regions, with enrichment for disease-resistance genes. Another 316 genes are affected by large indels, including 130 genes with complete deletion of coding regions in Ler. Using the Arabidopsis qrt1 mutant, two sets of four meiotic products were generated and analyzed by sequencing for meiotic recombination, representing the first tetrad analysis with whole-genome sequencing in a nonfungal species. We detected 18 COs, six of which had an associated GC event, and four GCs without COs (NCOs), and revealed that Arabidopsis GCs are likely fewer and with shorter tracts than those in yeast. Meiotic recombination and chromosome assortment events dramatically redistributed genome variation in meiotic products, contributing to population diversity. In particular, meiosis provides a rapid mechanism to generate copy-number variation (CNV) of sequences that have different chromosomal positions in Col and Ler.

摘要

减数分裂重组,包括交叉(COs)和基因转换(GCs),影响自然变异,是一种重要的进化力量。COs 通过重新分配现有变异来增加遗传多样性,而 GCs 可以改变等位基因频率。在这里,我们对拟南芥直立型(Ler)和哥伦比亚(Col)/Ler 杂种的四个减数分裂产物的两组进行了测序,以研究核苷酸分辨率下的全基因组变异和减数分裂重组。将 Ler 和 Col 序列进行比较,发现了 349171 个单核苷酸多态性(SNP)、58085 个小插入/缺失(indels)和 2315 个大插入/缺失,SNP 和小 indels 的全基因组分布高度相关。共有 443 个基因在蛋白质编码区至少有 10 个非同义替换,其中富含抗病基因。另有 316 个基因受到大 indels 的影响,包括 Ler 中编码区完全缺失的 130 个基因。利用拟南芥 qrt1 突变体,我们生成了两组四个减数分裂产物,并通过测序进行了减数分裂重组分析,这是在非真菌物种中首次进行全基因组测序的四联体分析。我们检测到 18 个 COs,其中 6 个与 GC 事件相关,4 个没有 COs(NCOs)的 GCs,表明拟南芥 GCs 可能比酵母中的更少,并且具有更短的片段。减数分裂重组和染色体分配事件在减数分裂产物中极大地重新分配了基因组变异,为种群多样性做出了贡献。特别是,减数分裂为 Col 和 Ler 中具有不同染色体位置的序列提供了一种快速产生拷贝数变异(CNV)的机制。