Article
Convergent somatic evolution commences in utero in a germline ribosomopathy.
Nature communications - 22 Aug 2023
Machado Heather E, Øbro Nina F, Williams Nicholas, Tan Shengjiang, Boukerrou Ahmed Z, Davies Megan, Belmonte Miriam, Mitchell Emily, Baxter E Joanna, Mende Nicole, Clay Anna, Ancliff Philip, Köglmeier Jutta, Killick Sally B, Kulasekararaj Austin, Meyer Stefan, Laurenti Elisa, Campbell Peter J, Kent David G, Nangalia Jyoti, Warren Alan J
Abstract excerpt
Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in human disease. Here, we perform whole genome sequencing of 323 haematopoietic colonies from 10 individuals with the inherited ribosomopathy Shwachman-Diamond syndrome to reconstruct haematopoietic phylogenies. In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7...
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