| Date |
Wednesday, 19 February 2020,16:30～ |
| Room |
7th Floor, Seminar Room 1, IDAC Center for Basic Aging Research |
| Title |
Recent insight into maintenance of chromosome stability through functional analyses of ICF syndrome causative genes
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| Speaker |
Motoko UNOKI |
| Affiliation |
Medical Institute of Bioregulation, Kyushu University |
| Organizer |
Ayako Ui (Department of Molecular Oncology・ext 8469)
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| Abstract |
ICF syndrome is a rare autosomal recessive disease characterized by immunodeficiency, chromosomal instability, and facial anomalies. About half of the patients show hypomethylation of centromeric and pericentromeric repeats (the other half show hypomethylation only of pericentromeric repeats). We identified CDCA7 and HELLS, which compose a chromatin remodeling complex, as causative genes of the syndrome by exome analysis. Subsequent functional analyses revealed that these proteins are involved in non-homologous end joining (NHEJ) by facilitating Ku80 recruitment to DNA damage sites. Currently, we are trying to further deepen an insight into pathogenesis of the syndrome. In this seminar, I would like to present the latest results and discuss a possible mechanism of maintenance of chromosome
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