Matko Glunčić, Ines Vlahović, Marija Rosandić, Vladimir Paar
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引用次数: 0
摘要
目的：精确识别和分析人类3号染色体T2T-CHM13组合中的α-卫星高阶重复序列（HORs）：方法：从最近测序完成的人类 3 号染色体 T2T-CHM13 组合中，使用新型高精度 GRM2023 算法，结合全局重复图（GRM）和单体距离图（MD），计算出精确的阿尔法卫星高阶重复序列结构：结果：3号染色体上的主要α-卫星HOR阵列显示了一种新型级联HOR，包含17个HOR拷贝，子片段周期为15和2。在级联 HOR 的每一行中，单体的类型各不相同，但在同一级联 17 聚体 HOR 的不同行中，含有不止一个相同类型的单体。每个典型的 17 聚体 HOR 副本由属于 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 阵列属于常规的威拉德类型：我们的发现强调了 3 号染色体中心粒内部的复杂性以及与预期高度规则模式的偏差。
Precise identification of cascading alpha satellite higher order repeats in T2T-CHM13 assembly of human chromosome 3.
Aim: 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.
Conclusion: Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.
期刊介绍：
Croatian Medical Journal (CMJ) is an international peer reviewed journal open to scientists from all fields of biomedicine and health related research.
Although CMJ welcomes all contributions that increase and expand on medical knowledge, the two areas are of the special interest: topics globally relevant for biomedicine and health and medicine in developing and emerging countries.
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