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小鼠基因组的完整端粒到端粒序列。

The complete telomere-to-telomere sequence of a mouse genome.

作者信息

Liu Junli, Li Qilin, Hu Yixuan, Yu Yi, Zheng Kai, Li Dengfeng, Qin Lexin, Yu Xiaochun

机构信息

Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.

School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.

出版信息

Science. 2024 Dec 6;386(6726):1141-1146. doi: 10.1126/science.adq8191. Epub 2024 Dec 5.

Abstract

The current reference genome of , GRCm39, has major gaps in both euchromatic and heterochromatic regions associated with repetitive sequences. In this work, we have sequenced and assembled the telomere-to-telomere genome of mouse haploid embryonic stem cells. The results reveal more than 7.7% of previously uncovered sequences of the mouse genome, including ribosomal DNA arrays and pericentromeric and subtelomeric regions, as well as an additional 140 genes predicted to be protein-coding. This study helps to address knowledge gaps in the mouse genome.

摘要

当前的小鼠参考基因组GRCm39在与重复序列相关的常染色质和异染色质区域都存在重大缺口。在这项工作中,我们对小鼠单倍体胚胎干细胞的端粒到端粒基因组进行了测序和组装。结果揭示了小鼠基因组中超过7.7%以前未发现的序列,包括核糖体DNA阵列、着丝粒周围和亚端粒区域,以及另外140个预测为蛋白质编码的基因。这项研究有助于填补小鼠基因组中的知识空白。

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