News Releases & Research Results Elucidation of the hidden diversity of human centromere DNA sequences

News Releases & Research Results

Outline

The results of the international collaborative research project conducted by Specially Appointed Assistant Professor Yuta Suzuki and Professor Shinichi Morishita of the Graduate School of Frontier Sciences, the University of Tokyo and Dr. Eugene W. Myers of the Max Planck Institute for Molecular Cell Biology and Genetics, Germany.

The key results of this research project are as follows:

  • A method for analyzing the human centromere (*1) regions was developed using the data obtained by long-strand DNA sequencing technology (*2) to compare and analyze the genomic information from 36 samples collected in various ethnic groups, thereby elucidating the significant diversity of DNA sequences of the centromere regions.
    (*1) Centromeres play an important role in the transient formation of condensed chromosomes during cell division and represent constricted regions of the chromosome. The regions have a special structure with high-density genomic DNA, precluding sequence determination.
    (*2) This novel sequencing method was put into practical use in the 2010s, allowing simultaneous determination of longer sequences (thousands to tens of thousands of base pairs or longer) than the conventional methods.
  • The results of this research project should facilitate the elucidation of diseases due to various genetic factors through the understanding of the relationship between the sequence diversity of the centromere regions and cell functions.

This project was conducted with the support of the Platform Program for Promotion of Genome Medicine by AMED.

The results of this research project were published online in Science Advances on December 12.

Article

Suzuki Y., et al. Rapid and ongoing evolution of repetitive sequence structures in human centromeres Science Advances
DOI: 10.1126/sciadv.abd9230

12/14/20

Last updated 12/14/20