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Concept
Germline mutation
Summary
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). 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. After this fertilization event occurs, germ cells divide rapidly to produce all of the cells in the body, causing this mutation to be present in every somatic and germline cell in the offspring; this is also known as a constitutional mutation. Germline mutation is distinct from somatic mutation.
Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. A mutation that arises only in germ cells can result in offspring with a genetic condition that is not present in either parent; this is because the mutation is not present in the rest of the parents' body, only the germline.
Germline mutations can occur before fertilization and during various stages of zygote development. When the mutation arises will determine the effect it has on offspring. If the mutation arises in either the sperm or the oocyte before development, then the mutation will be present in every cell in the individual's body. A mutation that arises soon after fertilization, but before germline and somatic cells are determined, then the mutation will be present in a large proportion of the individual's cell with no bias towards germline or somatic cells, this is also called a gonosomal mutation. A mutation that arises later in zygote development will be present in a small subset of either somatic or germline cells, but not both.
A germline mutation often arises due to endogenous factors, like errors in cellular replication and oxidative damage. This damage is rarely repaired imperfectly, but due to the high rate of germ cell division, can occur frequently.
Endogenous mutations are more prominent in sperm than in ova.
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