PDF(Pubmed)
Abstract：
OBJECTIVE: To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
摘要：
目的：精确识别和分析人类3号染色体T2T-CHM13组装中的α-卫星高阶重复序列（HORs）。
方法：从最近测序的人类3号染色体的完整T2T-CHM13组装中，通过使用具有全局重复图（GRM）和单体距离（MD）图的新型高精度GRM2023算法计算了精确的α卫星HOR结构。
结果：3号染色体上的主要α卫星HOR阵列揭示了一种新的级联HOR，带有15和2个周期的子片段的17merHOR副本。在级联HOR的每一行中，单体类型不同,但同一级联17merHOR内的不同行包含多于一个相同类型的单体。每个规范的17merHOR拷贝包含属于16种不同单体类型的17个单体。另一个发音为10merHOR数组是常规Willard类型。
结论：我们的发现强调了3号染色体着丝粒的复杂性以及与预期的高度规则模式的偏差。
方法：从最近测序的人类3号染色体的完整T2T-CHM13组装中，通过使用具有全局重复图（GRM）和单体距离（MD）图的新型高精度GRM2023算法计算了精确的α卫星HOR结构。
结果：3号染色体上的主要α卫星HOR阵列揭示了一种新的级联HOR，带有15和2个周期的子片段的17merHOR副本。在级联HOR的每一行中，单体类型不同,但同一级联17merHOR内的不同行包含多于一个相同类型的单体。每个规范的17merHOR拷贝包含属于16种不同单体类型的17个单体。另一个发音为10merHOR数组是常规Willard类型。
结论：我们的发现强调了3号染色体着丝粒的复杂性以及与预期的高度规则模式的偏差。
