Search results
The majority of mutations, however, are less than favorable, and this is illustrated by the relationship between mutation and certain hereditary diseases. An example is Huntington disease, a condition that strikes people in their forties or fifties and slowly disables their nervous systems.
27 lut 2024 · Genetic mutations are the instrument by which nature adds new variations to life. If the mutations give rise to advantageous traits, they get passed down through successive generations and can spread throughout the entire population of a species.
23 cze 2021 · Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line.
28 mar 2024 · Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between ...
17 maj 2013 · Over the past few years, genomic technologies have made it possible to obtain direct knowledge concerning rates of human mutation. Recent studies are converging on similar SNV mutation rates, quantifying the male mutation bias and its relation with paternal age.
One central goal of this paper is to test whether many mutation types differ in rate between human populations or whether mutation spectrum shifts have been rare events affecting only a small proportion of mutation types.
2 mar 2016 · Most notably, the mutation rate per generation increases by a factor of 2 between males of age 20 and 40 years (Kong et al. 2012; Francioli et al. 2015), likely due to the temporal increase in cell divisions in the male germline.
