The human genome, consisting of 3 billion base pairs, is frequently subject to damage from both external and internal factors. While most of the damage is correctly repaired, a few are not, resulting in base substitutions. Many of these substituted bases do not affect cellular function, but when base substitutions alter protein function, they could impact cellular phenotypes, such as growth rate and sensitivity to anti-cancer drugs. In some cases, cells emerge that can no longer halt their proliferation. These "cells that cannot stop proliferating" are, in essence, cancer cells. Our laboratory aims to understand the mechanisms underlying chromosome instability, one of the common characteristics of cancer. Chromosome instability refers to the inability to accurately transmit the quality and quantity of genomic information to daughter cells. For instance, the incorporation of incorrect bases by DNA polymerase during DNA replication and repair can lead to a decline in both the quality and the quantity of genomic information. Abnormalities in enzymes responsible for chromosome segregation can relatively result in a change in the quantity of genomic information. Our research group focuses on unraveling the mechanisms of chromosome instability caused by defects in DNA replication and DNA repair, as well as the resulting changes in genome dynamics.

Research Focus

Our research team is focused on:

1. Elucidating changes in three-dimensional genome structure resulting from chromosomal instability
2. Investigating the impact of the relationship between nuclear genome organization and topology on genome function

We are committed to enhancing our collaboration with Tokyo Metropolitan Hospitals, advancing our analyses of clinical specimens to gain deeper insights into molecular mechanism of disease onset. Our team utilizes cutting-edge technologies, including:

• Genome editing techniques
• High-resolution microscopy
• Single-cell transcriptomics
• Spatial transcriptomics and other cutting-edge next-generation sequencing technologies

Keywords

Organisms and Research Themes

Elucidating the Molecular Mechanisms of Carcinogenesis Using Human Cells and Mouse Models

Understanding the Fundamental Processes of DNA Metabolism

Analysis of Genome Dynamics in DNA Replication and Repair

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We are advancing our research on the molecular mechanisms of disease onset using optimal model organisms by actively utilizing new technologies, such as Next-Generation Sequencing (NGS), Xenium, Nanopore sequencing, and mass-spectrometry

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Contact info

Room 105, Building N,
Tokyo Metropolitan Institute of Medical Science 2-1-6, Kamikitazawa, Setagaya-ku, Tokyo, zip156-8506, Japan
E-mail：sasanuma-hr
Tel：03-5316-3231