RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

Autor:	Jonna Grimsby, Nicholas J. Haradhvala, Julian M. Hess, Hailei Zhang, Eila Arich-Landkof, Paz Polak, Chip Stewart, Philip A. Branton, Gad Getz, Noam Shoresh, Ruslana Frazer, Kristin G. Ardlie, Jaegil Kim, Keren Yizhak, Dimitri Livitz, Daniel Rosebrock, K Kübler, François Aguet, Ayellet V. Segrè, Xiao Li
Rok vydání:	2019
Předmět:	Male Genetics Mutation Multidisciplinary Sequence Analysis RNA Somatic cell Sequence analysis DNA Mutational Analysis Cell Normal tissue RNA Disease Biology medicine.disease_cause Clone Cells medicine.anatomical_structure Organ Specificity Neoplasms RNA Sequence medicine Humans Female
Zdroj:	Science. 364
ISSN:	1095-9203 0036-8075
DOI:	10.1126/science.aaw0726
Popis:	Somatic mosaicism in normal tissues Somatic cells can accumulate mutations over the course of an individual's lifetime. This generates cells that differ genetically at specific loci within the genome. To explore how this genetic diversity in individuals contributes to disease, Yizhak et al. developed a method to detect mutations from RNA sequencing data (see the Perspective by Tomasetti). Applying this method to Cancer Genome Atlas samples and normal samples from the Genotype-Tissue Expression (GTEx) project generated a tissue-specific study of mutation accumulation. Somatic mutations were detected in nearly all individuals and across many normal human tissues in genomic regions called cancer hotspots and in genes that play a role in cancer. Interestingly, the skin, lung, and esophagus exhibited the most mutations, suggesting that the environment generates many human mutations. Science , this issue p. eaaw0726 ; see also p. 938
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2b8615f5998aa7235745a555da0d0f https://doi.org/10.1126/science.aaw0726 Zobrazit plný text záznamu