植物等位基因特异性基因组变异及定量表型的转录组学研究

Kan Liu
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引用次数: 0

摘要

基因组和基因产物与其他分子之间的相互作用是生物系统的物理基础。对植物的研究尤其如此,因为植物通常具有复杂的基因组,而且许多重要的性状,如产量、株高和抗逆性都是定量的。许多数量性状通常通过基因表达调控而受多个数量表达位点(QTL)控制。一个基因的表达可能与一个远离它的遗传变异有关,这被称为反式eqtl(表达QTL),也可能受到一个局部变异的影响,这被称为顺式eqtl。由于在植物基因组中广泛存在,顺式作用的遗传变异已被证明在基因表达变异中占更大的比例。然而,利用测序数据在人群中识别顺式eQTL是具有挑战性的,因为eQTL定位的能力要么受到样本量的限制,要么受到混杂因素的影响。对于具有二倍体基因组的生物体,由于单倍型信息的缺乏和定位偏差,可以提供更直接的顺式eqtl证据的等位基因特异性表达(allelspecific Expression, ASE)信息往往被忽略或丢弃。
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Allele-specific genomic variations and transcriptomic research on quantitative phenotyping in plants
Genomes and interactions among gene products with other molecules are the physical fundamentals of biological systems. This is especially true for research in plants, which usually have complicated genomes and many important traits like yield, plant height, and stress tolerance are quantitative. Many quantitative traits are usually controlled by more than one Quantitative expression Loci (QTL) through the regulation of gene expression. The expression of a gene could be associated with a genetic variant far away from it, which is called trans-eQTL (expression QTL) or be affected by a local variant, which is named cis-eQTL. With a widespread existence throughout the plant genome, cis-acting genetic variants have been proven to account for a larger proportion of variation in gene expression. However, it is challenging for identifying cis-eQTL in the population with sequencing data because the power of eQTL mapping is either constrained by sample size or reduced by confounding factors. For organisms with a diploid genome, the information of AlleleSpecific Expression (ASE) which could provide more direct evidence of cis-eQTL is often ignored or discarded due to the unavailability of haplotype information and mapping bias.
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