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Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
Open accessAbstract
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 unaffected father. We previously demonstrated high levels of both 755C>G and 755C>T FGFR2 mutations in human sperm and proposed that these particular mutations are enriched because the encoded proteins confer a selective advantage to spermatogonial cells. Here, we examine three corollaries of this hypothesis. First, we show that mutation levels at the adjacent FGFR2 nucleotides 752-754 are low, excluding any general increase in local mutation rate. Second, we present three instances of double-nucleotide changes involving 755C, expected to be extremely rare as chance events. Two of these double-nucleotide substitutions are shown, either by assessment of the pedigree or by direct analysis of sperm, to have arisen in sequential steps; the third (encoding Ser252Tyr) was predicted from structural considerations. Finally, we demonstrate that both major alternative spliceforms of FGFR2 ( Fgfr2b and Fgfr2c ) are expressed in rat spermatogonial stem cell lines. Taken together, these observations show that specific FGFR2 mutations attain high levels in sperm because they encode proteins with gain-of-function properties, favoring clonal expansion of mutant spermatogonial cells. Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms.
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“Nearly all Apert syndrome mutations arise de novo, and have been shown to originate exclusively from the father.”
From Craniosynostosis (2011) · cites this paper as [15]
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“This is because the vast majority of cases arise from mutations occurring in adult spermatogonia, which although subject to strong positive selection never populate large proportions of the sperm.15,16”
From Craniosynostosis (2011) · cites this paper as [15]
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“These mutations provide a paradigm for paternal age effect mutations that are enriched in sperm owing to a paradoxical selective advantage to mutant spermatogonial cells in the testis.15,16”
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“In the case of FGF receptor mutations, provided that the blood of both parents is negative for the mutation, the recurrence risk is very low (well under 1%).”
From Craniosynostosis (2011) · cites this paper as [15]
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Metadata
- Authors
- Goriely, A., McVean, G. A. T., van Pelt, A. M. M., O'Rourke, A. W., Wall, S. A., de Rooij, D. G., & Wilkie, A. O. M.
- Affiliations
- Utrecht University (NL)
- Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom; Department of Statistics, University of Oxford, South Parks Road, Oxford OX1 3TG, United Kingdom; Department of Endocrinology, Utrecht University, 3584 CH, Utrecht, The Netherlands; Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford OX3 7LJ, United Kingdom; Department of Plastic Surgery, Craniofacial Unit, Radcliffe Infirmary, Oxford OX2 6HE, United Kingdom; and...
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-04-19
- Volume
- 102
- Issue
- 17
- Pages
- 6051-6056
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1975823415
- Cited by
- 146
- References
- 45
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 1 · 2022: 16 · 2021: 4 · 2020: 2 · 2019: 7 · 2018: 7 · 2017: 2 · 2016: 8 · 2015: 3 · 2014: 7 · 2013: 11 · 2012: 15
- FWCI
- 11.92
- Type
- journal article
- Language
- en
- Open access
- green
- dx.doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- FGFR2, Apert syndrome, gain-of-function mutations, spermatogonia, clonal expansion, FGFR2b, FGF signaling, positive selection, spermatogonial stem cells
- MeSH terms
- Acrocephalosyndactylia, Base Sequence, Genetic Carrier Screening, Humans, Male, Spermatogonia, Polymerase Chain Reaction, Mutagenesis, Site-Directed, Receptors, Fibroblast Growth Factor, DNA Primers, Amino Acid Substitution, Polymorphism, Single Nucleotide, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2
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