Harewood Louise, Chaignat Evelyne, Reymond Alexandre
The Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Methods Mol Biol. 2012;838:173-86. doi: 10.1007/978-1-61779-507-7_8.
Structural variation, whether it is caused by copy number variants or present in a balanced form, such as reciprocal translocations and inversions, can have a profound and dramatic effect on the expression of genes mapping within and close to the rearrangement, as well as affecting others genome wide. These effects can be caused by altering the copy number of one or more genes or regulatory elements (dosage effect) or from physical disruption of links between regulatory elements and their associated gene or genes, resulting in perturbation of expression. Similarly, large-scale structural variants can result in genome-wide expression changes by altering the positions that chromosomes occupy within the nucleus, potentially disrupting not only local cis interactions, but also trans interactions that occur throughout the genome. Structural variation is, therefore, a significant factor in the study of gene expression and is discussed here in more detail.
结构变异，无论是由拷贝数变异引起还是以平衡形式存在，如相互易位和倒位，都可能对重排区域内及附近基因的表达产生深远而显著的影响，同时也会影响全基因组的其他基因。这些影响可能是由于改变一个或多个基因或调控元件的拷贝数（剂量效应），或者是由于调控元件与其相关基因之间的连接被物理破坏，从而导致表达紊乱。同样，大规模结构变异可通过改变染色体在细胞核内占据的位置导致全基因组表达变化，这不仅可能破坏局部顺式相互作用，还可能破坏全基因组范围内发生的反式相互作用。因此，结构变异是基因表达研究中的一个重要因素，本文将对此进行更详细的讨论。
