Genetic composition of an exponentially growing cell population

DOI10.1016/J.SPA.2020.06.003zbMATH Open1457.92121arXiv1905.12355OpenAlexW3033558827MaRDI QIDQ2229554FDOQ2229554

David Cheek, Tibor Antal

Publication date: 18 February 2021

Published in: Stochastic Processes and their Applications (Search for Journal in Brave)

Abstract: We study a simple model of DNA evolution in a growing population of cells. Each cell contains a nucleotide sequence which randomly mutates at cell division. Cells divide according to a branching process. Following typical parameter values in bacteria and cancer cell populations, we take the mutation rate to zero and the final number of cells to infinity. We prove that almost every site (entry of the nucleotide sequence) is mutated in only a finite number of cells, and these numbers are independent across sites. However independence breaks down for the rare sites which are mutated in a positive fraction of the population. The model is free from the popular but disputed infinite sites assumption. Violations of the infinite sites assumption are widespread while their impact on mutation frequencies is negligible at the scale of population fractions. Some results are generalised to allow for cell death, selection, and site-specific mutation rates. For illustration we estimate mutation rates in a lung adenocarcinoma.

Full work available at URL: https://arxiv.org/abs/1905.12355

Mathematics Subject Classification ID

Genetics and epigenetics (92D10) Problems related to evolution (92D15)

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Cited In (2)

• Site frequency spectrum of a rescued population under rare resistant mutations
• Parameter estimation from single patient, single time-point sequencing data of recurrent tumors

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