Molecular genetic analyses of the mechanism of pseudohypoparathyroidims type 1b

• Project/Area Number: 16K21665
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Endocrinology; Pediatrics
• Research Institution: Hokkaido University (2017); National Center for Child Health and Development (2016)
• Principal Investigator: Nakamura Akie 北海道大学, 大学病院, 助教 (90724708)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2016: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: インプリンティング疾患 / 偽性副甲状腺機能低下症 / 内分泌学 / インプリンティング異常症

Outline of Final Research Achievements

We clarify the molecular basis of PHP cases. Furthermore, we identified a family case of PHP1b with mild hypomethylation of GNAS A/B. We performed whole genome sequence analysis with next generation sequencer and found out

Research Products

• [Journal Article] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. (2016)
  • Author(s): Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
  • Journal Title: J Clin Endocrinol Metab Volume: 101(7) Issue: 7 Pages: 2623-7
  • DOI: 10.1210/jc.2016-1725
  • Peer Reviewed / Open Access