Genetic variation across and within individuals

Lynch, M. et al. Genetic drift, selection and the evolution of the mutation rate. Nat. Rev. Genet. 17, 704–714 (2016).

Article  CAS  PubMed  Google Scholar 

Coorens, T. H. H. et al. Extensive phylogenies of human development inferred from somatic mutations. Nature 597, 387–392 (2021). In this study, clones from many different normal tissues are sequenced, and phylogenetic trees of these normal cells are reconstructed, revealing embryonic lineages and somatic evolution.

Article  CAS  PubMed  Google Scholar 

Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Spencer Chapman, M. et al. Lineage tracing of human development through somatic mutations. Nature 595, 85–90 (2021).

Article  CAS  PubMed  Google Scholar 

Fasching, L. et al. Early developmental asymmetries in cell lineage trees in living individuals. Science 371, 1245–1248 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Park, S. et al. Clonal dynamics in early human embryogenesis inferred from somatic mutation. Nature 597, 393–397 (2021).

Article  CAS  PubMed  Google Scholar 

Bates, G. P. History of genetic disease: the molecular genetics of Huntington disease — a history. Nat. Rev. Genet. 6, 766–773 (2005).

Article  CAS  PubMed  Google Scholar 

Berberich, A. J. & Hegele, R. A. The complex molecular genetics of familial hypercholesterolaemia. Nat. Rev. Cardiol. 16, 9–20 (2019).

Article  CAS  PubMed  Google Scholar 

Wooster, R. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–792 (1995).

Article  CAS  PubMed  Google Scholar 

Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66–71 (1994).

Article  CAS  PubMed  Google Scholar 

Martincorena, I. & Campbell, P. J. Somatic mutation in cancer and normal cells. Science 349, 1483–1489 (2015).

Article  CAS  PubMed  Google Scholar 

Mustjoki, S. & Young, N. S. Somatic mutations in “benign” disease. N. Engl. J. Med. 384, 2039–2052 (2021).

Article  CAS  PubMed  Google Scholar 

Miller, M. B. et al. Somatic genomic changes in single Alzheimer’s disease neurons. Nature 604, 714–722 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jaiswal, S. et al. Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease. N. Engl. J. Med. 377, 111–121 (2017).

Article  PubMed  PubMed Central  Google Scholar 

Wong, W. J. et al. Clonal haematopoiesis and risk of chronic liver disease. Nature 616, 747–754 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Niroula, A. et al. Distinction of lymphoid and myeloid clonal hematopoiesis. Nat. Med. 27, 1921–1927 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Silver, A. J., Bick, A. G. & Savona, M. R. Germline risk of clonal haematopoiesis. Nat. Rev. Genet. 22, 603–617 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robinson, P. S. et al. Increased somatic mutation burdens in normal human cells due to defective DNA polymerases. Nat. Genet. 53, 1434–1442 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee, B. C. H. et al. Mutational landscape of normal epithelial cells in Lynch Syndrome patients. Nat. Commun. 13, 2710 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robinson, P. S. et al. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nat. Commun. 13, 3949 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kazazian, H. H. Jr Mobile elements: drivers of genome evolution. Science 303, 1626–1632 (2004).

Article  CAS  PubMed  Google Scholar 

Alexandrov, L. B. et al. The repertoire of mutational signatures in human cancer. Nature 578, 94–101 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Haradhvala, N. J. et al. Mutational strand asymmetries in cancer genomes reveal mechanisms of DNA damage and repair. Cell 164, 538–549 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Macintyre, G. et al. Copy number signatures and mutational processes in ovarian carcinoma. Nat. Genet. 50, 1262–1270 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li, Y. et al. Patterns of somatic structural variation in human cancer genomes. Nature 578, 112–121 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coorens, T. H. H. et al. Inherent mosaicism and extensive mutation of human placentas. Nature 592, 80–85 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moore, L. et al. The mutational landscape of human somatic and germline cells. Nature 597, 381–386 (2021).

Article  CAS  PubMed  Google Scholar 

Blokzijl, F. et al. Tissue-specific mutation accumulation in human adult stem cells during life. Nature 538, 260–264 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lawson, A. R. J. et al. Extensive heterogeneity in somatic mutation and selection in the human bladder. Science 370, 75–82 (2020). This study is one of the first to use organoid cultures of stem cells from different human tissues to study somatic mutations in normal cells by whole-genome sequencing.

Article  CAS  PubMed  Google Scholar 

Abascal, F. et al. Somatic mutation landscapes at single-molecule resolution. Nature 593, 405–410 (2021).

Article  CAS  PubMed  Google Scholar 

Lee-Six, H. et al. The landscape of somatic mutation in normal colorectal epithelial cells. Nature 574, 532–537 (2019).

Article  CAS  PubMed  Google Scholar 

Mitchell, E. et al. Clonal dynamics of haematopoiesis across the human lifespan. Nature 606, 343–350 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang, Y. et al. APOBEC mutagenesis is a common process in normal human small intestine. Nat. Genet. 55, 246–254 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moore, L. et al. The mutational landscape of normal human endometrial epithelium. Nature 580, 640–646 (2020).

Article  CAS  PubMed  Google Scholar 

Yoshida, K. et al. Tobacco smoking and somatic mutations in human bronchial epithelium. Nature 578, 266–272 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brunner, S. F. et al. Somatic mutations and clonal dynamics in healthy and cirrhotic human liver. Nature 574, 538–542 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Martincorena, I. et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science 348, 880–886 (2015). This study identifies large clonal expansions carrying driver mutations in normal skin.

Article  CAS 

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