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A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). [1] Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote . [ 2 ]
In germline cells, ROS are likely a significant cause of DNA damages that, upon DNA replication, lead to mutations. 8-Oxoguanine, an oxidized derivative of guanine, is produced by spontaneous oxidation in the germline cells of mice, and during the cell's DNA replication cause GC to TA transversion mutations. [17]
A BRCA mutation is a mutation in either of the BRCA1 and BRCA2 genes, ... they are classified as hereditary or germline mutations rather than acquired or somatic ...
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.
LFS is caused by germline mutations (also called genetic variants) in the TP53 tumor suppressor gene, [5] which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The variants can be inherited, or can arise from mutations early in embryogenesis, or in one of the parent's germ cells.
Older parents, especially fathers, tend to have a higher risk of having children with de novo mutations due to the higher number of cell divisions in the male germ line as men age. [ 5 ] In genetic counselling, parents are often told that after having a first child with a condition caused by a de novo mutation the risk of a having a second ...
The mutation frequencies for cells throughout the different stages of spermatogenesis in mice is similar to that in female germline cells, that is 5 to 10-fold lower than the mutation frequency in somatic cells [19] [13] Thus low mutation frequency is a feature of germline cells in both sexes.
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.