Article
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.
Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 2016
Maher Geoffrey J, McGowan Simon J, Giannoulatou Eleni, Verrill Clare, Goriely Anne, Wilkie Andrew O M
Abstract excerpt
De novo point mutations arise predominantly in the male germline and increase in frequency with age, but it has not previously been possible to locate specific, identifiable mutations directly within the seminiferous tubules of human testes. Using microdissection of tubules exhibiting altered expression of the spermatogonial markers MAGEA4, FGFR3, and phospho-AKT, whole genome amplification, and DNA sequencing,...
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