Article
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
Proceedings of the National Academy of Sciences of the United States of America - 26 Apr 2005
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
Abstract excerpt
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 substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the...
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