Mosaic Mutations May Not Be Rare
By Anna Azvolinsky,
The Scientist
| 06. 08. 2015
Untitled Document
Most novel mutations in an individual are thought to originate in the germline. Other mutations, somatic mosaic mutations—which are only present in a subset of a person’s cells—can either be passed down from a parent or originate during early development. Such mosaic mutations were thought to be fairly rare, but according to a study published today (June 5) in The American Journal of Human Genetics, they may contribute to as much as 6.5 percent of an individual’s genomic variation. If confirmed, the results could affect how researchers estimate a person’s risk of passing disease-linked alleles on to their children.
The findings “highlight that mosaicism may be more common than we had appreciated so far,” geneticist Anne Goriely of the University of Oxford wrote in an e-mail to The Scientist. “The main value of the present study is an attempt to quantify this process,” added Goriely, who was not involved in the work.
Mosaicism can result when a de novo mutation arises after an embryo is formed. Using newer, more sensitive sequencing technologies, researchers have recently...
Related Articles
By Josie Ensor, The Times | 12.09.2025
A fertility start-up that promises to screen embryos to give would-be parents their “best baby” has come under fire for a “misuse of science”.
Nucleus Genomics describes its mission as “IVF for genetic optimisation”, offering advanced embryo testing that allows...
By Hannah Devlin, The Guardian | 12.06.2025
Couples undergoing IVF in the UK are exploiting an apparent legal loophole to rank their embryos based on genetic predictions of IQ, height and health, the Guardian has learned.
The controversial screening technique, which scores embryos based on their DNA...
By Frankie Fattorini, Pharmaceutical Technology | 12.02.2025
Próspera, a charter city on Roatán island in Honduras, hosts two biotechs working to combat ageing through gene therapy, as the organisation behind the city advertises its “flexible” regulatory jurisdiction to attract more developers.
In 2021, Minicircle set up a...
By Vardit Ravitsky, The Hastings Center | 12.04.2025
Embryo testing is advancing fast—but how far is too far? How and where do we draw the line between preventing disease and selecting for “desirable” traits? What are the ethical implications for parents, children, clinicians, and society at large? These...
