The complete telomere-to-telomere sequence of a mouse Y chromosome

• 成果类型: Article
• 署名作者: Li, Qilin; Liu, Junli; Chen, Si; Hu, Yixuan; Li, Dengfeng; Su, Zhuojie; Zhang, Yanxiao; Yu, Xiaochun
• 署名单位: Westlake University; Westlake Laboratory
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-8075; 1095-9203
• DOI: 10.1126/science.aea2249
• 发表日期: 2026-09-10
• 页码: eaea2249
• 关键词: HIGHER-ORDER STRUCTURE; genes; chromatin; alignment; genome; program

摘要

The mouse Y chromosome is essential for male reproduction, yet the GRCm39 reference contains 25 gaps, particularly in repetitive and complex regions. Here, we assembled a telomere-to-telomere Y chromosome (mT2T Y) of 95.21 Mb from a C57BL/6 mouse incorporating parental genomes. This assembly fills all gaps, corrects structural errors, and adds over 8.70 Mb of previously unassembled sequence to the reference genome. We annotated 142 previously unidentified genes, identified Y specific satellite arrays, and mapped homologous recombination loci in the pseudoautosomal region (PAR). Analysis of X Y homologous gene expression revealed a Y chromosome dosage compensation mechanism. By combining mT2T Y with T2T mhaESC, we completed the T2T assembly of all C57BL/6 chromosomes, designated T2T mhaESC+Y, providing a complete C57BL/6 reference genome.