基本信息
浏览量:58
职业迁徙
个人简介
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.
研究兴趣
论文共 77 篇作者统计合作学者相似作者
按年份排序按引用量排序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)
Stephen J Bush, Rafail Nikola, Seungmin Han, Shinnosuke Suzuki,Shosei Yoshida, Benjamin D Simons,Anne Goriely
Cellsno. 9 (2024): 742
Stephen J Bush, Rafail Nikola, Seungmin Han,Shinnosuke Suzuki,Shosei Yoshida, Benjamin D Simons,Anne Goriely
biorxiv(2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 4-4
引用0浏览0引用
0
0
Journal of Medical Geneticsno. 9 (2023): 925-931
引用3浏览0引用
3
0
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
引用0浏览0引用
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
引用0浏览0引用
0
0
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn