Singer Tatjana, Fan Yiping, Chang Hur-Song, Zhu Tong, Hazen Samuel P, Briggs Steven P
Torrey Mesa Research Institute, Syngenta Research and Technology, San Diego, California, United States of America.
PLoS Genet. 2006 Sep 15;2(9):e144. doi: 10.1371/journal.pgen.0020144. Epub 2006 Jul 27.
Recombinant populations were the basis for Mendel's first genetic experiments and continue to be key to the study of genes, heredity, and genetic variation today. Genotyping several hundred thousand loci in a single assay by hybridizing genomic DNA to oligonucleotide arrays provides a powerful technique to improve precision linkage mapping. The genotypes of two accessions of Arabidopsis were compared by using a 400,000 feature exon-specific oligonucleotide array. Around 16,000 single feature polymorphisms (SFPs) were detected in approximately 8,000 of the approximately 26,000 genes represented on the array. Allelic variation at these loci was measured in a recombinant inbred line population, which defined the location of 815 recombination breakpoints. The genetic linkage map had a total length of 422.5 cM, with 676 informative SFP markers representing intervals of approximately 0.6 cM. One hundred fifteen single gene intervals were identified. Recombination rate, SFP distribution, and segregation in this population are not uniform. Many genomic regions show a clustering of recombination events including significant hot spots. The precise haplotype structure of the recombinant population was defined with unprecedented accuracy and resolution. The resulting linkage map allows further refinement of the hundreds of quantitative trait loci identified in this well-studied population. Highly variable recombination rates along each chromosome and extensive segregation distortion were observed in the population.
重组群体是孟德尔首次遗传实验的基础,并且至今仍是基因、遗传和遗传变异研究的关键。通过将基因组DNA与寡核苷酸阵列杂交,在一次检测中对数十万基因座进行基因分型,提供了一种提高精确连锁图谱绘制精度的强大技术。利用一个具有40万个特征的外显子特异性寡核苷酸阵列,比较了两个拟南芥种质的基因型。在阵列上所代表的约26000个基因中的约8000个基因中,检测到了约16000个单特征多态性(SFP)。在一个重组自交系群体中测量了这些基因座的等位基因变异,该群体确定了815个重组断点的位置。遗传连锁图谱全长422.5厘摩,有676个信息丰富的SFP标记,代表约0.6厘摩的区间。确定了115个单基因区间。该群体中的重组率、SFP分布和分离并不均匀。许多基因组区域显示出重组事件的聚集,包括显著的热点。以前所未有的准确性和分辨率定义了重组群体精确的单倍型结构。由此产生的连锁图谱有助于进一步完善在这个经过充分研究的群体中鉴定出的数百个数量性状基因座。在该群体中观察到沿着每条染色体的高度可变的重组率和广泛的分离畸变。