Glunčić Matko, Vlahović Ines, Rosandić Marija, Paar Vladimir
Matko Glunčić, Department of Physics, Faculty of Science, University of Zagreb, Bijenička cesta 32, 10000 Zagreb, Croatia,
Croat Med J. 2024 Jun 13;65(3):209-219. doi: 10.3325/cmj.2024.65.209.
To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3.
From the recently sequenced complete T2T-CHM13 assembly of human chromosome 3, the precise alpha satellite HOR structure was computed by using the novel high-precision GRM2023 algorithm with global repeat map (GRM) and monomer distance (MD) diagrams.
The major alpha satellite HOR array in chromosome 3 revealed a novel cascading HOR, housing 17mer HOR copies with subfragments of periods 15 and 2. Within each row in the cascading HOR, the monomers were of different types, but different rows within the same cascading 17mer HOR contained more than one monomer of the same type. Each canonical 17mer HOR copy comprised 17 monomers belonging to 16 different monomer types. Another pronounced 10mer HOR array was of the regular Willard's type.
Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
精确识别和分析人类3号染色体T2T-CHM13组装体中的α卫星高阶重复序列（HORs）。
从最近测序的人类3号染色体完整T2T-CHM13组装体中，使用具有全局重复图谱（GRM）和单体距离（MD）图的新型高精度GRM2023算法计算精确的α卫星HOR结构。
3号染色体中的主要α卫星HOR阵列显示出一种新型级联HOR，包含17聚体HOR拷贝以及周期为15和2的亚片段。在级联HOR的每一行中，单体类型不同，但同一级联17聚体HOR内的不同行包含不止一个相同类型的单体。每个典型的17聚体HOR拷贝由属于16种不同单体类型的17个单体组成。另一个明显的10聚体HOR阵列是规则的威拉德类型。
我们的研究结果强调了3号染色体着丝粒内的复杂性以及与预期高度规则模式的偏差。
