Abstract：
Short tandem repeats (STRs) play a crucial role in genetic diseases. However, classic disease models such as inbred mice lack such genome wide data in public domain. The examination of STR alleles present in the protein coding regions (are known as protein tandem repeats or PTR) can provide additional functional layer of phenotype regulars. Motivated with this, we analysed the whole genome sequencing data from 71 different mouse strains and identified STR alleles present within the coding regions of 562 genes. Taking advantage of recently formulated protein models, we also showed that the presence of these alleles within protein 3-dimensional space, could impact the protein folding. Overall, we identified novel alleles from a large number of mouse strains and demonstrated that these alleles are of interest considering protein structure integrity and functionality within the mouse genomes. We conclude that PTR alleles have potential to influence protein functions through impacting protein structural folding and integrity.
摘要：
短串联重复序列（STR）在遗传疾病中起着至关重要的作用。然而,经典的疾病模型，如近交小鼠，在公共领域缺乏这样的全基因组数据。对存在于蛋白质编码区中的STR等位基因(称为蛋白质串联重复或PTR)的检查可以提供表型规则的额外功能层。出于这个动机，我们分析了来自71个不同小鼠品系的全基因组测序数据，并鉴定了562个基因编码区内存在的STR等位基因。利用最近制定的蛋白质模型，我们还证明了这些等位基因在蛋白质三维空间中的存在，会影响蛋白质的折叠。总的来说,我们从大量小鼠品系中鉴定出了新的等位基因,并证明考虑到小鼠基因组中蛋白质结构的完整性和功能性,这些等位基因是令人感兴趣的.我们得出结论，PTR等位基因有可能通过影响蛋白质结构折叠和完整性来影响蛋白质功能。
