Extended Data Fig. 4: Changes in centromere sequence, structure, and DNA methylation patterns across generations.
From: Human de novo mutation rates from a four-generation pedigree reference
a) Schematic of the generalized organization of human centromeres and their flanking sequence. Major components and their structures are shown. HOR, higher-order repeat. Not drawn to scale. b) Deletion of an 18-monomer α-satellite HOR within the Chromosome 6 centromere of G2-NA12878 is inherited in G3-NA12887, shortening the length of the α-satellite HOR array by ~3 kbp. c) Sequence identity heatmap of the Chromosome 6 centromere in G1-NA128991 shows the high (~100%) sequence identity of α-satellite HORs along the entire centromeric array and at the site of the de novo deletion. d,e) Deletions of α-satellite HORs in regions outside of the centromere dip region (CDR) in the d) Chromosome 4 and e) Chromosome 11 centromeres does not affect the position of the CDR. f,g) Deletions and insertions of α-satellite HORs within the CDR in the f) Chromosome 19 and g) Chromosome 21 centromeres alter the distribution of the CDR.
