Jones Martin R, Chua Shu Yi, O'Neil Nigel J, Johnsen Robert C, Rose Ann M, Baillie David L
Department of Medical Genetics, Life Sciences Centre, University of British Columbia, Vancouver BC, Canada.
Mol Genet Genomics. 2009 Jul;282(1):37-46. doi: 10.1007/s00438-009-0444-8. Epub 2009 Mar 29.
Genomic rearrangements are widely used in Caenorhabditis elegans research but many remain incompletely characterized at the physical level. We have used oligo-array comparative genomic analysis to assess the physical structure of 20 deficiencies and a single duplication of chromosome V. We find that while deletions internal to the chromosome appear simple in structure, terminal deletions are complex, containing duplications in addition to the deletion. Additionally, we confirm that transposon-induced deficiencies contain breakpoints that initiate at Tc1 elements. Finally, 13 of these deficiencies are known to suppress recombination far beyond the extent of the deletion. These deficiencies fall into two classes: strong and weak suppressors of adjacent recombination. Analysis of the deleted regions in these deficiencies reveals no common physical sites to explain the observed differences in recombination suppression. However, we find a strong correlation between the size of the rearranged chromosome and the severity of recombination suppression. Rearranged chromosomes that have a minor effect on recombination fall within 2% of normal chromosome size. Our observations highlight the use of array-based approaches for the analysis of rearranged genomes, revealing previously unidentified deficiency characteristics and addressing biologically relevant questions.
基因组重排在秀丽隐杆线虫研究中被广泛应用,但许多在物理层面仍未得到充分表征。我们利用寡核苷酸阵列比较基因组分析来评估20个缺失和1个五号染色体重复的物理结构。我们发现,虽然染色体内部的缺失在结构上看似简单,但末端缺失很复杂,除了缺失外还包含重复。此外,我们证实转座子诱导的缺失包含起始于Tc1元件的断点。最后,已知这些缺失中有13个能抑制远远超出缺失范围的重组。这些缺失分为两类:相邻重组的强抑制因子和弱抑制因子。对这些缺失中缺失区域的分析未发现共同的物理位点来解释观察到的重组抑制差异。然而,我们发现重排染色体的大小与重组抑制的严重程度之间存在很强的相关性。对重组影响较小的重排染色体在正常染色体大小的2%以内。我们的观察结果突出了基于阵列的方法在分析重排基因组中的应用,揭示了以前未识别的缺失特征并解决了生物学相关问题。