Chromosome-specific centromeric patterns define the centeny map of the human genome

• 成果类型: Article
• 署名作者: Corda, Luca; Giunta, Simona
• 署名单位: Sapienza University Rome
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-9317
• DOI: 10.1126/science.ads3484
• 发表日期: 2025-07-03
• 关键词: alpha-satellite dna; cenp-b box; higher-order repeats; complete sequence; subsets; identification; ORGANIZATION; definition; proteins; regions

摘要

Centromeres are epigenetically specified by distinct chromatin, whereas their DNA varies between species and individuals. This extensive sequence divergence makes comparative analyses between centromeres challenging. In this study, we identified a chromosome-specific architectural pattern across the human genome, defined by the conserved spacing of a functionally relevant centromeric DNA motif. The distribution of these sites along chromosome arms constitutes the human centeny map. By using a custom Genomic Centromere Profiling (GCP) pipeline, we leveraged the motif's position, orientation, and organization to construct structural models that enable reclassification of human chromosomal clusters, detection of centromere expansion, and identification of structural variants and misassembled regions. The high-resolution maps derived from this pattern not only provide a framework for comparative analysis of centromeres across evolution and disease but also offer a new dimension for chromosome annotation, assembly, and characterization.