Molecular basis underlying ciliopathy in 13 trisomy syndrome

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K15017
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: General anatomy (including histology/embryology)
• Research Institution: Hiroshima University
• Principal Investigator: Miyamoto Tatsuo 広島大学, 原爆放射線医科学研究所, 講師 (40452627)
• Co-Investigator(Kenkyū-buntansha): 柳原 啓見 国立研究開発法人量子科学技術研究開発機構, 放射線医学総合研究所 放射線影響研究部, 博士研究員(任常) (50719474) ; 松浦 伸也 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 繊毛病

Outline of Final Research Achievements

13 trisomy syndrome (Patau syndrome) is characterized with developmental anomalies of brain and heart. Importantly, patients with the disease also show ciliopathy-like symptoms including polycystic kidney and polydactyly. In order to clarify the molecular pathology of ciliopaty in Patau syndrome,here we attempted to screen the causative genes. We identified the two genes associated with vesicular transport and mitochondria as the candidate gene underlying ciliopathy in Patau syndrome.

Free Research Field

人類遺伝学