This chapter discusses the mutation rates for mammalian genomes that have often been computed from rates of amino-acid substitution. The fact that rates differing by manyfold are obtained for different proteins emphasizes that in some proteins, such as the histones, most amino-acid substitutions are...
An excellent review on regional variation in mutation rates.Hodgkinson, A. & Eyre-Walker, A. Variation in the mutation rate across mammalian genomes. Nat Rev Genet 12, 756-766, doi: 10.1038/nrg3098 (2011).Hodgkinson A, Eyre-Walker A. Variation in the mutation rate across mammalian genomes....
However, to determine the true, spontaneous somatic mutation frequency in this way requires a well-validated procedure to amplify the genomes of single cells. Here we present the first direct comparison of mutation rates in human and mouse single somatic cells, which are compared with human and ...
Mutation rates in mammalian genomes Knowledge of the rate of point mutation is of fundamental importance, because mutations are a vital source of genetic novelty and a significant cause of hu... S Kumar,S Subramanian - 《Proc Natl Acad Sci U S A》 被引量: 922发表: 2002年 Mutation rates ...
The rates and patterns of somatic mutation in normal tissues are largely unknown outside of humans1–7. Comparative analyses can shed light on the diversity of mutagenesis across species, and on long-standing hypotheses about the evolution of somatic mut
High mutation rate of a long microsatellite allele in Drosophila melanogaster provides evidence for allele-specific mutation rates. Within recent years, microsatellite have become one of the most powerful genetic markers in biology. For several mammalian species, microsatellite mutation... C Schlötter...
Subramanian Mutation rates in mammalian genomes Proc Natl Acad Sci U S A, 99 (2002), pp. 803-808 View in ScopusGoogle Scholar [20] Q. Qiu, L. Wang, K. Wang, Y. Yang, T. Ma, Z. Wang, et al. Yak whole-genome resequencing reveals domestication signatures and prehistoric population ...
Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA Netw Open. 2023;6:E2339571. Article PubMed PubMed Central Google Scholar Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754–...
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis Somatic mosaicism in the human brain may alter function of individual neurons. We analyzed genomes of single cells from the forebrains of three human fetuses (15 to 21 weeks postconception) using clonal cell...
The mutation rate at any specific position in the human genome depends on sequence context. Here, the authors develop a method for predicting mutation rates of point mutations and indels based on sequence context; the results can be used to find genes where de novo mutations cause disease and ...