基本信息
views: 58
Career Trajectory
Bio
As mutations are at the origin of all genetic variations, understanding the factors that influence mutational rates and patterns (and the reason for which they occur) is crucial to the study of disease, evolution and genome diversity. It is now well established that 30-100 point mutations are acquired spontaneously at each generation. Although these point mutations initially arise as random miscopying events, preferentially from the paternal germline, we have described a new mechanism which predicts that some pathogenic mutations may hijack the way sperm production is controlled to their own advantage. In doing so, these ‘selfish’ mutations become progressively enriched in the testis as men age and are therefore associated with an increased risk of transmission to the next generation.
The concept of 'Selfish Spermtogonial Selection’ was originally proposed to explain the paternal age-effect and high birth prevalence observed for a group of rare Mendelian diseases, which we collectively called ‘paternal age-effect (PAE) disorders’, such as Apert syndrome (caused by activating mutations in FGFR2), achondroplasia (FGFR3) or Costello (HRAS) and Noonan (PTPN11/SHP2) syndromes. It relies on principles similar to oncogenesis to explain why these disorders occur spontaneously at levels up to 1000-fold higher than background mutation rates.
The concept of 'Selfish Spermtogonial Selection’ was originally proposed to explain the paternal age-effect and high birth prevalence observed for a group of rare Mendelian diseases, which we collectively called ‘paternal age-effect (PAE) disorders’, such as Apert syndrome (caused by activating mutations in FGFR2), achondroplasia (FGFR3) or Costello (HRAS) and Noonan (PTPN11/SHP2) syndromes. It relies on principles similar to oncogenesis to explain why these disorders occur spontaneously at levels up to 1000-fold higher than background mutation rates.
Research Interests
Papers共 76 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
The Journal of pathology (2024)
Katherine Wood, Ronald Spencer Tong,Viviana Cordeddu,Alice Traversa,Marialetizia Motta,Viviana Caputo, Valerie Cormier-Daire,Andrew Wilkie,Stephen Twigg,Marco Tartaglia,Anne Goriely
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 4-4
Cited0Views0Bibtex
0
0
Stephen J. Bush, Rafail Nikola,Seungmin Han,Shinnosuke Suzuki,Shosei Yoshida, Benjamin D. Simons,Anne Goriely
biorxiv(2024)
Stephen J Bush, Rafail Nikola,Seungmin Han,Shinnosuke Suzuki,Shosei Yoshida, Benjamin D Simons,Anne Goriely
Cellsno. 9 (2024): 742
Hira Mayet, Catriona Gilmour Hamilton, Adam Holloway,Anne Goriely,Christian Babbs, John Ansell, Penny Clarke, Sally Jeans,Thomas Milne,Noemi B. A. Roy
BRITISH JOURNAL OF HAEMATOLOGY (2023): 77-78
Cited0Views0Bibtex
0
0
Marie Bernkopf,Ummi B Abdullah,Stephen J. Bush, Karen L. Wood, Sahar Ghaffari,Eleni Giannoulatou,Nils Koelling,Geoffrey J. Maher,L Thibaut,Jonathan Williams,Edward Blair,Fiona Blanco Kelly,
Nature Communicationsno. 1 (2023): 1-11
Trends in genetics : TIGno. 8 (2023): 598-599
Molecular Cancer Researchno. 5_Supplement (2023): IA18-IA18
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn