| Budget Amount *help |
¥46,020,000 (Direct Cost: ¥35,400,000、Indirect Cost: ¥10,620,000)
Fiscal Year 2015: ¥15,600,000 (Direct Cost: ¥12,000,000、Indirect Cost: ¥3,600,000)
Fiscal Year 2014: ¥15,600,000 (Direct Cost: ¥12,000,000、Indirect Cost: ¥3,600,000)
Fiscal Year 2013: ¥14,820,000 (Direct Cost: ¥11,400,000、Indirect Cost: ¥3,420,000)
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| Outline of Final Research Achievements |
We have attempted to clarify underlying (epi)genetic mechanisms involved in the development of human imprinting disorders. Representative results include: (1) identification of the underlying factors, (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. Furthermore, we identified that the boundary of the epimutations in Temple syndrome patients, Kagami-Ogata syndrome patients, and control subjects are virtually identical. This implies that epimutations take place at the region flanked by insulators. We also established iPS cell from Kagami-Ogata syndrome patients.
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