Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models
These findings provide convergent clinical and computational evidence that early human embryos may employ a self-correction mechanism to regulate benign SMCs/SVs mosaicism. We propose a developmental "Shepherd Mechanism," whereby mosaic cells are selectively eliminated until a safe equilibrium is reached, ensuring viable yet non-pathogenic inheritance. This work introduces a conceptual framework for understanding naturally tolerated chromosomal variation and offers theoretical guidance for prenatal genetic counseling and embryo selection strategies in assisted reproduction.
Authors
- Qinhao Song
- Jianjun Zhu (ORCID: https://orcid.org/0000-0001-5338-7825)
- Li Yang (ORCID: https://orcid.org/0000-0001-9098-694X)
- Jiayu Ruan
- Xiaodan Liu (ORCID: https://orcid.org/0000-0001-9112-1032)
- Suping Li (ORCID: https://orcid.org/0000-0002-0294-8861)
- Yue Hu
Institutions
- Tongji University (CN)
- First Hospital of Jiaxing (CN)
- Lishui Maternity and Child Health Care Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-20
- DOI
- https://doi.org/10.3389/fgene.2025.1710280
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82