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Mutations along human chromosomes: How randomly scattered are they?
José-Angel Oteo1, Gonzalo Oteo-García2
1Departament de Física Teòrica, Universitat de València, 46100 Burjassot, Valencia, Spain and Institute for Integrative Systems Biology, 46980 Paterna, Valencia, Spain.
Physical Review. E
|January 21, 2023
Summary
Human chromosome mutations exhibit long-range correlations, a phenomenon known as the Hurst phenomenon. This study links it to linkage disequilibrium, finding a uniform reduction when using genetic distance rather than base pairs.
Area of Science:
- Genetics
- Genomics
- Bioinformatics
Background:
- Human chromosome mutations are well-documented and linked to population characteristics and disease.
- Understanding mutation patterns is crucial for genetic research and disease etiology.
Purpose of the Study:
- To investigate the patterns of gaps between mutations on human chromosomes.
- To analyze long-range correlations and their genomic basis.
Main Methods:
- Rescaled range analysis
- Fractal dimension estimation
- Analysis of human chromosomes 1-22 and X
Main Results:
- The Hurst phenomenon, indicating long-range correlations, was detected in all analyzed human chromosomes.
- Linkage disequilibrium is proposed as a genomic explanation for these correlations.
- A uniform reduction in the Hurst phenomenon was observed using centimorgan (genetic distance) units, unlike fractal dimension values.
Conclusions:
- Human chromosome mutation patterns exhibit long-range correlations (Hurst phenomenon).
- Linkage disequilibrium provides a potential explanation for these observed correlations.
- The scaling behavior of mutations differs between physical (base pair) and genetic (centimorgan) distance metrics.
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