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. 2021 Apr 7;593(7857):101–107. doi: 10.1038/s41586-021-03420-7

Extended Data Fig. 1. Sequence, structure and epigenetic map of the neocentromeric chromosome 8q21.2 VNTR.

Extended Data Fig. 1

a, Schematic showing the composition of the CHM13 8q21.2 VNTR. This VNTR consists of 67 full and 7 partial 12.192-kb repeats that span 863 kb in total. The predicted restriction digest pattern is indicated. Each repeat is methylated within a 3-kb region and hypomethylated within the rest of the sequence. Mapping of CENP-A ChIP–seq data from the chromosome 8 neodicentric cell line known as MS422124,25 (Methods) reveals that approximately 98% of CENP-A chromatin is located within the hypomethylated portion of the repeat. A pairwise sequence identity heat map across the region indicates a mirrored symmetry within a single layer, consistent with the evolutionarily young status of the tandem repeat. b, Pulsed-field gel Southern blot of CHM13 DNA digested with BmgBI confirms the size and organization of the chromosome 8q21.2 VNTR. Left, ethidium bromide staining; right, 32P-labelled chromosome 8q21.2-specific probe. For gel source data, see Supplementary Fig. 1c, d. c, Copy number of the 8q21 repeat (chr8:85792897−85805090 in GRCh38) throughout the human population. CHM13 is estimated to have 144 total copies of the 8q21 repeat, or 72 copies per haplotype, whereas GRCh38 only has 26 copies (red data points). Median ± s.d. is shown.