Work described in this story was made possible in part by federal funding supported by taxpayers. At Harvard Medical School, the future of efforts like this — done in service to humanity — now hangs in the balance due to the government’s decision to terminate large numbers of federally funded grants and contracts across Harvard University.
Genetic changes that create ever-expanding numbers of identical sperm cells are more widespread than previously thought, according to a new study led by researchers at Harvard Medical School.
The team identified genes underlying these so-called clonal expansions and linked the mutations that result — which can be harmful when passed onto offspring — to a number of single-gene diseases, including certain neurodevelopmental disorders.
The findings, published Oct. 8 in Nature, could improve understanding of genetic diseases driven by clonal expansions in sperm. This, in turn, could lead to better genetic screening tests for newborns.
“Clonal expansions in sperm were a known phenomenon, but we figured out that they are surprisingly common and can be caused by dozens of different genes,” said senior author Shamil Sunyaev, professor of biomedical informatics in the Blavatnik Institute at HMS.
The results also reveal how evolutionary forces can shape genetic mutations at both the individual and population levels, the researchers said.
In a complementary study in Nature, also published on Oct. 8, a team led by researchers at the Wellcome Sanger Institute mapped how harmful genetic changes in sperm stem cells — including clonal expansions — increase as men age.