How novel ribosomal RNA gene repeat variants drive cellular function

数百个核糖体RNA基因重复拷贝是我们基因组的一个重要组成部分，因为它们编码负责所有细胞蛋白质合成的机制，并塑造细胞核的结构。然而，由于它们的高度序列相似性，它们仍然没有被组装成人类基因组参考。该项目将解决这一僵局，并进一步揭示核糖体RNA基因重复序列中新发现的分子多样性的功能影响。成果包括核糖体RNA基因重复序列如何驱动蛋白质合成和基因组结构的新范式，以及开发用于人类健康，生物技术和农业的新型基因组学应用的蓝图。

The hundreds of ribosomal RNA gene repeat copies are a remarkable part of our genomes, as they encode the machinery responsible for all cellular protein synthesis and shape the structure of the nucleus. However, due to their high degree of sequence similarity, they still have not been assembled into the human genome reference. This project will resolve this impasse and furthermore uncover the functional impacts of a newly identified molecular diversity in the ribosomal RNA gene repeats. Outcomes include new paradigms for how the ribosomal RNA gene repeats drive protein synthesis and genome structure, and a blueprint to develop novel genomics applications for human health, biotechnology, and agriculture.