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. Author manuscript; available in PMC: 2023 Dec 29.
Published in final edited form as: N Engl J Med. 2023 May 4;388(26):2422–2433. doi: 10.1056/NEJMoa2300503

Figure 4. Phylogenies of Hematopoietic Colonies.

Figure 4.

Panels A, B, and C show phylogenies of single cell–derived hematopoietic colonies on a somatic variant scale (single-nucleotide variants and short insertions–deletions). The POT1 genotype, the person’s age, and the telomere length (TL) percentile are shown above each tree. In Panel B, two de novo JAK2 mutations are resolved in the tree, and the two cooccurring DNMT3A mutations in Panel C were found to be biallelic in phasing studies. The tree topology in the two POT1 mutation carriers shows the tips, which represent contemporary hematopoietic colonies that are descended from fewer ancestral progenitor lineages (internal branches), in contrast to the tree of the related noncarrier shown in Panel A. The number of somatic variants in POT1 mutation carriers was also higher than in the noncarrier, even in clades without detectable driver mutations.