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Human T-cell receptor genes: organization, diversity, and polymorphism
Cold Spring Harbor Symposia on Quantitative Biology
|January 1, 1986
Summary
Researchers analyzed human beta cDNA clones to understand V beta gene diversification. The human V beta gene repertoire is limited, and mapping efforts are underway to identify disease associations and evolutionary mechanisms.
Area of Science:
- Immunogenetics
- Molecular Biology
- Human Genetics
Background:
- The T-cell receptor (TCR) beta chain is crucial for adaptive immunity.
- Understanding the diversity of TCR beta variable (V beta) gene segments is key to T-cell repertoire analysis.
Purpose of the Study:
- To elucidate the germ line, combinatorial, and somatic mechanisms diversifying human V beta gene segments.
- To estimate the size of the functional human V beta gene repertoire.
- To facilitate mapping of the human V beta gene family and identify disease associations.
Main Methods:
- Analysis of 27 human beta cDNA clones.
- Deletional mapping.
- Field inversion gel electrophoresis (FIGE) for large DNA fragment analysis.
- Isolation of cosmid clones for gene mapping.
Main Results:
- The human V beta gene repertoire appears limited to approximately 60 functional gene segments.
- Polymorphisms within V beta gene segments have been identified.
- Methodologies are established to map the entire human V beta gene family.
Conclusions:
- Germ line, combinatorial, and somatic processes contribute to V beta gene diversification.
- The identified V beta gene polymorphisms offer potential for disease association studies.
- Comparative analysis with mouse V beta loci will enhance understanding of evolutionary mechanisms.