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Protocol for Human Blastoids Modeling Blastocyst Development and Implantation
Published on: August 10, 2022
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The composition dynamics of transposable elements in human blastocysts
Jian Li1, Ping Yuan2,3, Guangwei Ma4
1Department of Clinical Laboratory, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
Journal of Human Genetics
|June 12, 2023
Summary
Transposable elements (TEs) proportions in human blastocysts are significantly influenced by parental genetic background and embryo development stage. These mobile DNA sequences show dynamic changes during early development.
Area of Science:
- Genetics
- Developmental Biology
- Genomics
Background:
- Transposable elements (TEs) are mobile DNA sequences crucial for genome evolution and regulation.
- TEs play roles in embryo development and chromosomal structure, but their variation in human blastocysts is not fully understood.
Purpose of the Study:
- To investigate the variation of transposable elements (TEs) in human blastocysts based on parental genetic background and developmental stage.
- To identify specific TE subfamilies influenced by parental karyotype, blastocyst stage, and ploidy status.
Main Methods:
- Analysis of 1137 TE subfamilies across six classes at the DNA level in 196 blastocysts.
- Utilized Bowtie2 and PopoolationTE2 for TE proportion analysis.
- Correlated TE frequencies with parental karyotype, blastocyst development stage, and ploidy status.
Main Results:
- Parental karyotype was the primary factor influencing TE frequencies, with 1116 subfamilies showing variations.
- Blastocyst development stage was the second most crucial factor, affecting 614 subfamilies.
- Specific TE families like Alu and LINE showed distinct proportions at different blastocyst stages (e.g., Stage 6 and Stage 3).
- TE subfamily proportions also varied with blastocyst karyotype (balanced vs. unbalanced), inner cell mass, and outer trophectoderm status.
Conclusions:
- TE subfamily composition is dynamically modulated during human embryo development.
- Parental genetic background and developmental stage significantly shape the TE landscape in blastocysts.
- TE variations may serve as indicators of embryonic health and developmental potential.
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