Situation in which some gamete-producing cells are affected by a mutation
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. 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.
A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism. It is possible for parents unaffected by germline mutations to produce an offspring with an autosomal dominant (AD) disorder due to a random new mutation within one’s gamete cells known as sporadic mutation; however, if these parents produce more than one child with an AD disorder, germline mosaicism is more likely the cause than a sporadic mutation.[4][unreliable source?] In the first documented case of its kind, two offspring of a French woman who had no phenotypic expression of the AD disorder hypertrophic cardiomyopathy, inherited the disease.[5]
^Orva, Rosa; Orva, David (April 1998). "Germ line Mosaicism". Human Genetics. 102 (4): 381–6. doi:10.1007/s004390050708. PMID 9600231. S2CID 22007840.
^Nussbuam, McInnes, Willard. Genetics In Medicine. Elsevier. pp. 123–125. ISBN 978-1-4377-0696-3.
^Laurentino, S.; Beygo, J.; Nordhoff, V.; Kliesch, S.; Wistuba, J.; Borgmann, J.; Buiting, K.; Horsthemke, B.; Gromoll, J. (21 October 2014). "Epigenetic germline mosaicism in infertile men". Human Molecular Genetics. 24 (5): 1295–1304. doi:10.1093/hmg/ddu540. PMID 25336341.
^"Germline Mosaicism". John P. Hussman Institute for Human Genomics module.
^Forissier, J. F.; Richard, P.; Briault, S.; Ledeuil, C.; Dubourg, O.; Charbonnier, B.; Carrier, L.; Moraine, C.; Bonne, G.; Komajda, M.; Schwartz, K.; Hainque, B. (2000). "First description of germline mosaicism in familial hypertrophic cardiomyopathy". Journal of Medical Genetics. 37 (2): 132–134. doi:10.1136/jmg.37.2.132. PMC 1734529. PMID 10662815.
and 21 Related for: Germline mosaicism information
Germlinemosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically...
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations...
the sperm cells of the father carry the change in the ADNP gene (germlinemosaicism). In this case, parents who are not found to carry the same ADNP change...
gene mutation. Parents may either be clinically affected or have germlinemosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele...
Causes may be a variable expressivity, an incomplete penetrance or germlinemosaicism. Only 40% of the mutations are inherited. The remaining 60% are a...
parents. However, there is a slight possibility (around 1%) due to germlinemosaicism, a phenomenon in which some sperm cell precursors have the mutation...
is estimated at 4.1%, with the possibility that these are due to germlinemosaicism. The exact cause for the varied collection of symptoms found in the...
Human germline engineering is the process by which the genome of an individual is edited in such a way that the change is heritable. This is achieved by altering...
de novo APC mutation (i.e. no known family history) 20% have somatic mosaicism. Asymptomatic individuals (and therefore asymptomatic family members)...
cell and the offspring will inherit it through that. This is called germlinemosaicism. There are at least 33 mutations in the Sox2 gene that have been known...
explored in the paper "The Autosomal Flp-Dfs Technique for Generating GermlineMosaics in Drosophila Melanogaster", which showed for the first time that it...
occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic...
inheritance. In more precise terminology, hereditary information moves only from germline cells to somatic cells (that is, somatic mutations are not inherited)....
appear to be distributed in a mosaic manner. It has been confirmed that the disorder is an example of genetic mosaicism. A team of doctors in Australia...
cells in an individual, it is called chromosomal mosaicism. In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe...
Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germlinemosaicism in Coffin-Lowry syndrome". European Journal of Human Genetics. 6 (6):...
with Tze-bin Chou, he developed the FLP-FRT DFS method to generate germlinemosaics, a method that allowed the large-scale characterization of the maternal...
Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH (2012). "Germlinemosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings...
into the cell or using gene-editing technology. This process is known as germline engineering and performing this on embryos that will be brought to term...
R. Frank; Pearson, Christopher E. (2022). "DE novo mutations, genetic mosaicism, and genetic disease". Frontiers in Genetics. 13. doi:10.3389/fgene.2022...
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