| Budget Amount *help |
¥24,310,000 (Direct Cost: ¥18,700,000、Indirect Cost: ¥5,610,000)
Fiscal Year 2016: ¥11,700,000 (Direct Cost: ¥9,000,000、Indirect Cost: ¥2,700,000)
Fiscal Year 2015: ¥12,610,000 (Direct Cost: ¥9,700,000、Indirect Cost: ¥2,910,000)
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| Outline of Final Research Achievements |
We analyzed an uncharacterised Cockayne syndrome like patient with normal NER (nucleotide excision repair) activity. We performed next-generation exome sequencing and identified pathogenic mutations in the XRCC4 gene, which encodes a non-homologous end joining (NHEJ) protein required for the ligation process. Our XRCC4 syndrome patient retained normal immune response, although LIG4 syndrome patients usually display immunodeficiency. Fibroblast cell lines derived from the XRCC4 and LIG4 patients showed significant radiation sensitivity. We performed plasmid-based V(D)J recombination assays for the XRCC4 patient cell lines. We are currently establishing model mice to further study molecular pathogeneses of XRCC4 syndrome.
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