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  1. Article

    Open Access

    The complete sequence and comparative analysis of ape sex chromosomes

    Apes possess two sex chromosomes—the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked ...

    Kateryna D. Makova, Brandon D. Pickett, Robert S. Harris, Gabrielle A. Hartley in Nature (2024)

  2. Article

    Open Access

    The variation and evolution of complete human centromeres

    Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size1. As a result, patterns of human centromeric variation and models for their evolut...

    Glennis A. Logsdon, Allison N. Rozanski, Fedor Ryabov, Tamara Potapova in Nature (2024)

  3. Article

    Open Access

    Defining a core configuration for human centromeres during mitosis

    The centromere components cohesin, CENP-A, and centromeric DNA are essential for biorientation of sister chromatids on the mitotic spindle and accurate sister chromatid segregation. Insight into the 3D organiz...

    Ayantika Sen Gupta, Chris Seidel, Dai Tsuchiya, Sean McKinney in Nature Communications (2023)

  4. No Access

    Article

    The complete sequence of a human Y chromosome

    The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications13. As a result, mo...

    Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J. Hoyt, Dylan J. Taylor in Nature (2023)

  5. Article

    Open Access

    Recombination between heterologous human acrocentric chromosomes

    The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2. Although the resolution of...

    Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes de Lima, Tamara Potapova in Nature (2023)

  6. Article

    Open Access

    Semi-automated assembly of high-quality diploid human reference genomes

    The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society1,2. However, it still has many gaps and errors, and does not repres...

    Erich D. Jarvis, Giulio Formenti, Arang Rhie, Andrea Guarracino, Chentao Yang in Nature (2022)

  7. Article

    Open Access

    The structure, function and evolution of a complete human chromosome 8

    The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human c...

    Glennis A. Logsdon, Mitchell R. Vollger, **Hsun Hsieh, Yafei Mao in Nature (2021)

  8. Article

    Open Access

    Telomere-to-telomere assembly of a complete human X chromosome

    After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and...

    Karen H. Miga, Sergey Koren, Arang Rhie, Mitchell R. Vollger, Ariel Gershman in Nature (2020)

  9. No Access

    Article

    Integrative structure and functional anatomy of a nuclear pore complex

    Nuclear pore complexes play central roles as gatekeepers of RNA and protein transport between the cytoplasm and nucleoplasm. However, their large size and dynamic nature have impeded a full structural and func...

    Seung Joong Kim, Javier Fernandez-Martinez, Ilona Nudelman, Yi Shi, Wenzhu Zhang in Nature (2018)