International Journal of Molecular Sciences (Jul 2024)

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

  • Matko Glunčić,
  • Ines Vlahović,
  • Marija Rosandić,
  • Vladimir Paar

DOI
https://doi.org/10.3390/ijms25147596
Journal volume & issue
Vol. 25, no. 14
p. 7596

Abstract

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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.

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