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A somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte.
Human somatic variations are somatic mutations (mutations that occur in somatic cells) both at early stages of development and in adult cells. These variations can lead either to pathogenic phenotypes or not, even if their function in healthy conditions is not completely clear yet.
Currently, the best estimate of the average human germline SNV mutation rate is 1.18 x 10^-8, with an approximate ~78 novel mutations per generation. The ability to conduct whole genome sequencing of parents and offspring allows for the comparison of mutation rates between generations, narrowing down the origin possibilities of certain genetic ...
In female mice, somatic cells were also found to have a higher mutation frequency than germline cells. [4] It was suggested that elevated levels of DNA repair enzymes play a prominent role in the lower mutation frequency of male and female germline cells, and that enhanced genetic integrity is a fundamental characteristic of germline cells. [ 4 ]
In whole genome sequencing of different types of cancers, large numbers of mutations were found in two breast cancers (about 20,000 point mutations [43]), 25 melanomas (9,000 to 333,000 point mutations [44]) and a lung cancer (50,000 point mutations and 54,000 small additions and deletions [45]). Genome instability is also referred to as an ...
The frequency of spontaneous mutations is significantly lower in advanced male germ cells than in somatic cell types from the same individual. [7] Female germ cells also show a mutation frequency that is lower than that in corresponding somatic cells and similar to that in male germ cells. [ 8 ]
Somatic hypermutation (or SHM) is a cellular mechanism by which the immune system adapts to the new foreign elements that confront it (e.g. microbes).A major component of the process of affinity maturation, SHM diversifies B cell receptors used to recognize foreign elements and allows the immune system to adapt its response to new threats during the lifetime of an organism. [1]
There are three general types of cells: germ cells, somatic cells, and stem cells. Germ cells lead to the production of gametes, while somatic cells perform all other functions within the body. Within the broad category of somatic cells, there is further specialization as cells become specified to certain tissues and functions.