Genetic identification and functional analysis in Japanese families with a short stature

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591514
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: The University of Tokushima
• Principal Investigator: ITAKURA Mitsuo 徳島大学, ヘルスバイオサイエンス研究部, 非常勤講師 (60134227)
• Co-Investigator(Kenkyū-buntansha): INOUE Hiroshi 徳島大学, 疾患プロテオゲノム研究センター, 講師 (20294639) ; YAMASHITA Yukiko 徳島大学, 疾患プロテオゲノム研究センター, 技術補佐員 (40532502) ; YOSHIMOTO Katsuhiko 徳島大学, ヘルスバイオサイエンス研究部, 教授 (90201863) ; OYADOMARI Seiichi 徳島大学, 疾患プロテオゲノム研究センター, 教授 (90502534)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 低身長症 / 遺伝子変異

Outline of Final Research Achievements

The genomic DNAs from 127 families with short stature were subjected to genetic studies and further functional studies. We identified two novel compound heterozygous GHRHR gene mutations such as p.G136V substitution (p.G136V) and IVS2+3a>g mutation (IVS2+3a>g) in the patient. Our functional analysis revealed that a p.G136V elicited no transcriptional activity increment in response to GHRH stimulation and the IVS2+3a>g would led to its aberrant splicing. We further analyzed SHOX genes which have not been charicterized in Japanese population, but SHOX deletions and point mutations as well as downstream SHOX enhancer deletions were not identified.

Free Research Field

遺伝学