Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitu...

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Bibliographic Details
Main Authors: Goriely, Anne, McVean, Gilean A. T., van Pelt, Ans M. M., O'Rourke, Anthony W., Wall, Steven A., de Rooij, Dirk G., Wilkie, Andrew O. M.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2005
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1087921/
https://ncbi.nlm.nih.gov/pubmed/15840724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0500267102
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