Structural and transduction patterns of human-specific polymorphic SVA insertions
Our analyses indicate that SVA_F<sub>1</sub> is more active than previously described and is a main driver of SVA expansion. We find two-fold more TD events compared to previous estimates, with an unexpected bias toward 3' events. Finally, we postulate that the discrepant SVA mobilization rate may be attributed to inter-individual variation in the presence/absence of source elements, a recent uptick in mobilization supported by overall low allele frequencies, and/or negative selection against deleterious insertions.
Authors
- Qihui Zhu (ORCID: https://orcid.org/0000-0003-2401-8443)
- Harrison Brand (ORCID: https://orcid.org/0000-0002-7901-0812)
- Hufsah Ashraf (ORCID: https://orcid.org/0000-0001-7760-0627)
- Miriam K. Konkel (ORCID: https://orcid.org/0000-0002-3190-1667)
- Nelson T. Chuang (ORCID: https://orcid.org/0000-0002-2015-8935)
- Paul Flicek (ORCID: https://orcid.org/0000-0002-3897-7955)
- Marc Jan Bonder (ORCID: https://orcid.org/0000-0002-8431-3180)
- Martín Santamarina (ORCID: https://orcid.org/0000-0001-5914-0540)
- Anna O. Basile (ORCID: https://orcid.org/0000-0001-5112-5880)
- Evan E. Eichler (ORCID: https://orcid.org/0000-0002-8246-4014)
- Allison Regier (ORCID: https://orcid.org/0000-0002-1932-8714)
- Mark Loftus (ORCID: https://orcid.org/0000-0002-6279-6855)
- Mark Chaisson (ORCID: https://orcid.org/0000-0001-5395-1457)
- Ira M. Hall (ORCID: https://orcid.org/0000-0003-4442-6655)
- Alex Hastie (ORCID: https://orcid.org/0000-0001-5829-2649)
- Benjamin Raeder (ORCID: https://orcid.org/0000-0002-9494-8884)
- Kai Ye (ORCID: https://orcid.org/0000-0002-2851-6741)
- Luke J. Tallon (ORCID: https://orcid.org/0000-0002-4656-4480)
- Ryan E. Mills (ORCID: https://orcid.org/0000-0003-3425-6998)
- Rebecca Serra Mari (ORCID: https://orcid.org/0000-0002-2812-9653)
- Michael C. Zody (ORCID: https://orcid.org/0000-0001-6594-7199)
- Tobias Rausch (ORCID: https://orcid.org/0000-0001-5773-5620)
- Mark Gerstein (ORCID: https://orcid.org/0000-0002-9746-3719)
- Zechen Chong (ORCID: https://orcid.org/0000-0001-5750-1808)
- Patrick Hasenfeld (ORCID: https://orcid.org/0000-0003-2319-2482)
- Ashley D. Sanders (ORCID: https://orcid.org/0000-0003-3945-0677)
- William T. Harvey (ORCID: https://orcid.org/0000-0003-0646-7528)
- Marta Byrska-Bishop (ORCID: https://orcid.org/0000-0002-9118-1032)
- Bernardo Rodríguez–Martín (ORCID: https://orcid.org/0000-0003-4693-3140)
- André Corvelo (ORCID: https://orcid.org/0000-0003-0989-7806)
- José M. C. Tubío (ORCID: https://orcid.org/0000-0003-3540-2459)
- Peter A. Audano (ORCID: https://orcid.org/0000-0002-5187-0415)
- Peter Ebert (ORCID: https://orcid.org/0000-0001-7441-532X)
- Weichen Zhou (ORCID: https://orcid.org/0000-0003-4755-1072)
- Maryam Ghareghani
- Michael E. Talkowski (ORCID: https://orcid.org/0000-0003-2889-0992)
- Haley Abel (ORCID: https://orcid.org/0000-0003-3110-8041)
- PingHsun Hsieh (ORCID: https://orcid.org/0000-0001-8294-6227)
- Alexandra P. Lewis (ORCID: https://orcid.org/0000-0002-6195-4786)
- Tobias Marschall (ORCID: https://orcid.org/0000-0002-9376-1030)
- Xiaofei Yang (ORCID: https://orcid.org/0000-0002-5118-7755)
- Jan O. Korbel (ORCID: https://orcid.org/0000-0002-2798-3794)
- Tsung-Yu Lu (ORCID: https://orcid.org/0000-0001-7110-3937)
- Zepeng Mu (ORCID: https://orcid.org/0000-0002-7717-3247)
- Feyza Yilmaz (ORCID: https://orcid.org/0000-0001-8795-5800)
- Scott E. Devine (ORCID: https://orcid.org/0000-0001-7629-8331)
- Jana Ebler (ORCID: https://orcid.org/0000-0002-0382-3702)
- Arvis Sulovari (ORCID: https://orcid.org/0000-0003-4354-9020)
- Uday S. Evani (ORCID: https://orcid.org/0009-0002-2057-4514)
- Jiadong Lin (ORCID: https://orcid.org/0000-0002-8116-5901)
- Wayne E. Clarke (ORCID: https://orcid.org/0000-0003-2471-0712)
- Susan Fairley (ORCID: https://orcid.org/0000-0001-9425-0788)
- Xuefang Zhao (ORCID: https://orcid.org/0000-0003-4036-9577)
- Katherine M. Munson (ORCID: https://orcid.org/0000-0001-8413-6498)
- Aaron M. Wenger (ORCID: https://orcid.org/0000-0003-1183-0432)
- Sushant Kumar (ORCID: https://orcid.org/0000-0002-0317-8520)
- David Porubský (ORCID: https://orcid.org/0000-0001-8414-8966)
- Ashley E. Kirby
- Oliver Stegle (ORCID: https://orcid.org/0000-0002-8818-7193)
- Junjie Chen (ORCID: https://orcid.org/0000-0002-0483-303X)
- Yu Chen (ORCID: https://orcid.org/0000-0002-2037-7337)
- Yang Li (ORCID: https://orcid.org/0000-0002-0736-251X)
- Chong Li (ORCID: https://orcid.org/0000-0002-3802-1507)
- Charles Lee (ORCID: https://orcid.org/0000-0001-7317-6662)
- Joyce Lee (ORCID: https://orcid.org/0000-0002-3492-1102)
- Xinghua Shi (ORCID: https://orcid.org/0000-0003-4662-3177)
- Jingwen Ren (ORCID: https://orcid.org/0009-0006-0643-7061)
- Wolfram Höps
- Emily C. Golba
Institutions
- Clemson University (US)
Publication Details
- Journal
- Mobile DNA
- Published
- 2025-11-06
- DOI
- https://doi.org/10.1186/s13100-025-00373-w
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00