Nullomers in the Human Genome
Author Information
Author(s): Acquisti Claudia, Poste George, Curtiss David, Kumar Sudhir
Primary Institution: Arizona State University
Hypothesis
Is the natural selection against nullomers really the primary cause of their absence in our genomes?
Conclusion
The role of mutations, instead of selection, in generating nullomers cast doubt on the utility of nullomers in many envisioned applications.
Supporting Evidence
- Nullomers are assumed to be caused by negative selection, but this study suggests mutations are the primary cause.
- Over 50% of the nucleotides in reported human nullomers participate in hypermutable CpG dinucleotides.
- The absence of nullomers in the human genome may be due to the hypermutation of CpG positions.
Takeaway
Nullomers are short DNA sequences missing from our genomes, and their absence is likely due to mutations rather than natural selection.
Methodology
The study analyzed the mutational characteristics of the human genome and compared nullomers across different species.
Limitations
The study primarily focuses on the mutational aspects and does not fully explore other potential factors influencing nullomer absence.
Digital Object Identifier (DOI)
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