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A germline mutation can also occur due to exogenous factors. Similar to somatic mutations, germline mutations can be caused by exposure to harmful substances, which damage the DNA of germ cells. This damage can then either be repaired perfectly, and no mutations will be present, or repaired imperfectly, resulting in a variety of mutations. [11]
Somatic mutations that occur later in an organism's life can be hard to detect, as they may affect only a single cell—for instance, a post-mitotic neuron; [3] [4] improvements in single cell sequencing are therefore an important tool for the study of somatic mutation. [5]
The spontaneous mutation frequency was found to be significantly higher (5 to 10-fold) in the somatic cell types than in the male germline cells. [3] 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 ...
The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [1] In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [2] Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations.
In sexually reproducing organisms, cells that are not in the germline are called somatic cells. According to this definition, mutations, recombinations and other genetic changes in the germline may be passed to offspring, but changes in a somatic cell will not be. [9]
A germline mutation can be passed down through subsequent generations of organisms. The distinction between germline and somatic mutations is important in animals that have a dedicated germline to produce reproductive cells. However, it is of little value in understanding the effects of mutations in plants, which lack a dedicated germline.
Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. Germline mosaicism can be caused either by a mutation that occurs after conception, [1] [2] or by epigenetic regulation, [3] alterations to DNA such as methylation that do not involve changes in the DNA coding sequence.
Because they are inherited from the parents, they are classified as hereditary or germline mutations rather than acquired or somatic mutations. Cancer caused by a mutated gene inherited from an individual's parents is a hereditary cancer rather than a sporadic cancer .