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Motifome comparison between modern human, Neanderthal and Denisovan
Matyas F Cserhati1, Mary-Ellen Mooter2, Lauren Peterson3
1Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, College of Medicine, Omaha, NE, 68198-5145, USA. cserhati@uthscsa.edu.
BMC Genomics
|June 20, 2018
Summary
Researchers analyzed genetic differences between modern humans, Neanderthals, and Denisovans using a novel algorithm. This study identified key regulatory motifs, offering insights into potential phenotypic and cognitive variations between human subspecies.
Area of Science:
- Genomics
- Human Evolution
- Bioinformatics
Background:
- Genome availability of Neanderthal, Denisovan, and modern humans enables large-scale genetic difference investigation.
- A novel algorithm predicts statistically significant motifs by comparing actual and expected motif distributions.
- The algorithm, previously used for plants, was adapted for analyzing human genomes.
Purpose of the Study:
- To identify and catalog potential regulatory motifs across human, Neanderthal, and Denisovan genomes.
- To investigate the distribution of these motifs in various genetic elements.
- To explore how motif distribution differences may explain phenotypic variations among human subspecies.
Main Methods:
- Application of a modified motif prediction algorithm to the genomes of modern humans, Neanderthals, and Denisovans.
- Examination of motif distributions within human retroviruses, accelerated regions, and conserved noncoding sequences.
- Comparative analysis of motif occurrences in regions unique to archaic human genomes.
Main Results:
- A catalog of potential regulatory motifs was generated for the three human subspecies.
- Twenty significant motifs were common to all three genomes; thirty-three were found in Neanderthal and Denisovan endogenous retroviruses.
- Significant motifs were identified in genes associated with odontogenesis (ENAM, AMTN) and neuroregulation (NAV2, SorCS2, etc.), and in human accelerated regions.
- Regions unique to Neanderthal and Denisovan genomes showed varying numbers of significant motifs, suggesting functional differences.
Conclusions:
- Analysis of archaic human genomes can illuminate phenotypic and cognitive differences compared to modern humans.
- Identified genetic motifs provide a basis for understanding functional variations between human subspecies.
- Further research into genetic similarities and differences with other fossil hominids is warranted.
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