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新型串联 Alpha 卫星 HOR 在猩猩 13 号染色体组装中的发现:59 碱基对 HOR 的发现——灵长类动物中最大的单位——以及人类 T2T-CHM13v2.0 组装中缺失的三核苷酸 45/27/18 HOR。

Novel Cascade Alpha Satellite HORs in Orangutan Chromosome 13 Assembly: Discovery of the 59mer HOR-The largest Unit in Primates-And the Missing Triplet 45/27/18 HOR in Human T2T-CHM13v2.0 Assembly.

机构信息

Faculty of Science, University of Zagreb, 10000 Zagreb, Croatia.

Department of Interdisciplinary Sciences, Algebra University College, 10000 Zagreb, Croatia.

出版信息

Int J Mol Sci. 2024 Jul 11;25(14):7596. doi: 10.3390/ijms25147596.

Abstract

From the recent genome assembly NHGRI_mPonAbe1-v2.0_NCBI (GCF_028885655.2) of orangutan chromosome 13, we computed the precise alpha satellite higher-order repeat (HOR) structure using the novel high-precision GRM2023 algorithm with Global Repeat Map (GRM) and Monomer Distance (MD) diagrams. This study rigorously identified alpha satellite HORs in the centromere of orangutan chromosome 13, discovering a novel 59mer HOR-the longest HOR unit identified in any primate to date. Additionally, it revealed the first intertwined sequence of three HORs, 18mer/27mer/45mer HORs, with a common aligned "backbone" across all HOR copies. The major 7mer HOR exhibits a Willard's-type canonical copy, although some segments of the array display significant irregularities. In contrast, the 14mer HOR forms a regular Willard's-type HOR array. Surprisingly, the GRM2023 high-precision analysis of chromosome 13 of human genome assembly T2T-CHM13v2.0 reveals the presence of only a 7mer HOR, despite both the orangutan and human genome assemblies being derived from whole genome shotgun sequences.

摘要

从最近组装的人猿染色体 13 的 NHGRI_mPonAbe1-v2.0_NCBI(GCF_028885655.2)基因组中,我们使用新的高精度 GRM2023 算法和全球重复图谱(GRM)和单体距离(MD)图谱,计算了精确的α卫星高级重复(HOR)结构。这项研究严格确定了人猿染色体 13 着丝粒中的α卫星 HOR,发现了一个新的 59mer HOR——迄今为止在任何灵长类动物中鉴定出的最长 HOR 单元。此外,它还揭示了第一个三个 HOR 相互交织的序列,18mer/27mer/45mer HORs,所有 HOR 拷贝都有一个共同的对齐“骨架”。主要的 7mer HOR 表现出典型的威拉德型拷贝,尽管该数组的一些片段显示出明显的不规则性。相比之下,14mer HOR 形成了一个规则的威拉德型 HOR 数组。令人惊讶的是,尽管人猿和人类基因组组装都源自全基因组鸟枪法序列,但 T2T-CHM13v2.0 人类基因组组装 13 号染色体的 GRM2023 高精度分析仅显示存在 7mer HOR。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfcc/11276891/e47490ded9cb/ijms-25-07596-g001.jpg

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