Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders

2015 Fiscal Year Final Research Report

• Project/Area Number: 25253023
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Ogata Tsutomu 浜松医科大学, 医学部, 教授 (40169173)
• Co-Investigator(Kenkyū-buntansha): KAGAMI MASAYO (独)国立成育医療研究センター研究所, 分子内分泌研究部, 室長 (70399484)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: インプリンティング疾患 / エピジェネティクス / 発症機序 / エピ変異 / iPS細胞

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.

Free Research Field

分子遺伝学