背景:GGC和GCC短串联重复序列(STR)具有多种进化特征,生物,和病理意义。然而,这些STR的基本双重复(dyad)尚未被广泛探索。
结果:在全基因组范围内,我们在人类中绘制了(GGC)2和(GCC)2二元组,并发现巨大的菌落(每个二元之间的距离<500bp)具有非凡的密度,在某些情况下是周期性的。最大的(GCC)2和(GGC)2菌落是基因间的,同质,和特定于人类的,由2号染色体上的219(GCC)2(概率<1.545E-219)和9号染色体上的70(GGC)2(概率=1.809E-148)组成。我们还发现其他类人猿有几个殖民地,人类的密度和复杂性有方向增加,例如20号染色体上的99(GCC)2菌落,在大猿中特异性扩增,并达到人类的最大复杂度(概率1.545E-220)。在基因组的其他大部分被忽视的区域中检测到许多与人类进化相关的殖民地,例如Y染色体和假基因。含有或最接近这些菌落的几个基因在人类中分散表达。
结论:结论:(GCC)2和(GGC)2形成了前所未有的基因组菌落,与人类和其他类人猿的进化相吻合。导致这些菌落的基因组重排程度支持被忽视的重组热点,在大猿之间分享。确定的殖民地值得在机械上进行研究,进化,和功能平台。
BACKGROUND: GGC and GCC short tandem repeats (STRs) are of various evolutionary, biological, and pathological implications. However, the fundamental two-repeats (dyads) of these STRs are widely unexplored.
RESULTS: On a genome-wide scale, we mapped (GGC)2 and (GCC)2 dyads in human, and found monumental colonies (distance between each dyad < 500 bp) of extraordinary density, and in some instances periodicity. The largest (GCC)2 and (GGC)2 colonies were intergenic, homogeneous, and human-specific, consisting of 219 (GCC)2 on chromosome 2 (probability < 1.545E-219) and 70 (GGC)2 on chromosome 9 (probability = 1.809E-148). We also found that several colonies were shared in other great apes, and directionally increased in density and complexity in human, such as a colony of 99 (GCC)2 on chromosome 20, that specifically expanded in great apes, and reached maximum complexity in human (probability 1.545E-220). Numerous other colonies of evolutionary relevance in human were detected in other largely overlooked regions of the genome, such as chromosome Y and pseudogenes. Several of the genes containing or nearest to those colonies were divergently expressed in human.
CONCLUSIONS: In conclusion, (GCC)2 and (GGC)2 form unprecedented genomic colonies that coincide with the evolution of human and other great apes. The extent of the genomic rearrangements leading to those colonies support overlooked recombination hotspots, shared across great apes. The identified colonies deserve to be studied in mechanistic, evolutionary, and functional platforms.