Glunčić Matko, Vlahović Ines, Rosandić Marija, Paar Vladimir
Faculty of Science, University of Zagreb, 10000 Zagreb, Croatia.
Department of Interdisciplinary Sciences, Algebra University College, 10000 Zagreb, Croatia.
Int J Mol Sci. 2025 Aug 22;26(17):8122. doi: 10.3390/ijms26178122.
Recent analyses have revealed that orangutan alpha satellite higher-order repeat (HOR) arrays in complete centromeres are composed of three to four distinct HOR blocks, each sharing only 80-90% sequence identity, thus forming a patchwork-quilt pattern of independent HOR expansions. In contrast, using our novel HOR-detection algorithm GRhor, we analyzed the complete Y chromosome centromere in orangutan and identified a highly ordered and complex alpha satellite 58mer superHOR array, comprising 67 HOR copies, including 46 highly identical canonical copies with a remarkably low divergence of only 0.25%. Given that the largest known human alpha satellite HOR is the 34mer on the Y chromosome, this novel 58mer structure qualifies as a superHOR. The canonical 58mer HOR contains only 44 distinct monomer types, with 14 types repeated within the unit, resulting in a unique five-row cascading organization. Such complexity is not detectable using standard HOR-searching tools employed in previous studies. Additionally, we identified a second, less pronounced 45mer cascading superHOR array with 0.81% divergence. For comparative purposes, we also detected a cascading 18mer HOR in gorilla and a Willard-type 28mer HOR in chimpanzee Y centromeres. Notably, preliminary genome-wide analysis in orangutan reveals other superHORs, including 84mer and 53mer arrays in chromosome 5; a 54mer in chromosome 10; a 51mer in chromosome 14; a 53mer in chromosome 15; and a 45mer in chromosome 22. These findings underscore the power of GRMhor in revealing highly structured and species-specific HOR architectures, with potential implications for centromere evolution and primate comparative genomics.
最近的分析表明,完整着丝粒中的红毛猩猩α卫星高阶重复(HOR)阵列由三到四个不同的HOR块组成,每个块仅共享80 - 90%的序列同一性,从而形成独立HOR扩展的拼凑图案。相比之下,我们使用新颖的HOR检测算法GRhor,分析了红毛猩猩完整的Y染色体着丝粒,并鉴定出一个高度有序且复杂的α卫星58聚体超级HOR阵列,由67个HOR拷贝组成,包括46个高度相同的典型拷贝,其差异仅为0.25%,非常低。鉴于已知最大的人类α卫星HOR是Y染色体上的34聚体,这种新颖的58聚体结构可被视为超级HOR。典型的58聚体HOR仅包含44种不同的单体类型,其中14种类型在单元内重复,形成独特的五行级联组织。使用先前研究中使用的标准HOR搜索工具无法检测到这种复杂性。此外,我们鉴定出第二个不太明显的45聚体级联超级HOR阵列,差异为0.81%。为了进行比较,我们还在大猩猩Y染色体着丝粒中检测到一个级联的18聚体HOR,在黑猩猩Y染色体着丝粒中检测到一个威拉德型28聚体HOR。值得注意的是,对红毛猩猩进行的全基因组初步分析揭示了其他超级HOR,包括5号染色体上的84聚体和53聚体阵列;10号染色体上的54聚体;14号染色体上的51聚体;15号染色体上的53聚体;以及22号染色体上的45聚体。这些发现强调了GRMhor在揭示高度结构化和物种特异性HOR结构方面的能力,对着丝粒进化和灵长类比较基因组学具有潜在影响。