Fig. 4: De novo SVs among centromeres transmitted across generations.
From: Human de novo mutation rates from a four-generation pedigree reference
a, Summary of the number of correctly assembled centromeres (dark grey) as well as those transmitted to the next generation (light grey). Transmitted centromeres that carry a de novo deletion, insertion or both are coloured. b, The lengths of the de novo SVs within α-satellite HOR arrays and flanking regions. c, An example of a de novo deletion in the chromosome 6 α-satellite HOR array in G2-NA12878 that was inherited in G3-NA12887. The red arrows over each haplotype show the α-satellite HOR structure, and the grey blocks between haplotypes show syntenic regions. The deleted region is highlighted by a red outline. Mat., maternal; pat., paternal. d, An example of a de novo insertion and deletion in the chromosome 19 α-satellite HOR array of G3-NA12885. e,f, Magnification of the α-satellite HOR structure of the inserted (blue outline; e) and deleted (red outline; f) α-satellite HORs from d. The coloured arrows at the top of each haplotype show the α-satellite HOR structure. g, Example of two de novo deletions in the chromosome 21 centromere of G2-NA12877. The deletions reside within a hypomethylated region of the centromeric α-satellite HOR array, known as the CDR, which is thought to be the site of kinetochore assembly. The deletion of three α-satellite HORs within the CDR results in a shift of the CDR by around 260 kb in G2-NA12877.
