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.

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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
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article

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

Qinhao Song, Jianjun Zhu, Li Yang, Jiayu Ruan et al.
1 citations
Frontiers in Genetics
Genomic variations and chromosomal abnormalities
1.82
article

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

Qinhao Song, Jianjun Zhu, Li Yang, Jiayu Ruan, Xiaodan Liu, Suping Li, Yue Hu
article en
1 citations

Abstract

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.

Frontiers in GeneticsVol. 16
Tongji University (CN), First Hospital of Jiaxing (CN), Lishui Maternity and Child Health Care Hospital (CN)
Openalex Percentile: Top 11%
Genomic variations and chromosomal abnormalities
1.82
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Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models — Qinhao Song, Jianjun Zhu, et al. · Frontiers in Genetics (2025) | TGRS Research Map | TGRS