Genetic identification and functional analysis in Japanese families with a short stature
| 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
|
| Project Status |
Completed (Fiscal Year 2014)
|
| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
|
|---|
| Keywords | 低身長症 / 遺伝子変異 / グレリン受容体遺伝子 / GH放出ホルモン受容体遺伝子 |
|---|
| 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.
|
Report
(4 results)
Research Products
(16 results)
-
[Journal Article] Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma.2015
Author(s)
T Iwata, T Tamanaha, R Koezuka, M Tochiya, H Makino, I Kishimoto, N Mizusawa, S Ono, N Inoshita, S Yamada, A Shimatsu, K Yoshimoto.
-
Journal Title
Eur J Endocrinol.
Volume: 172
Issue: 1
Pages: K5-K10
DOI
NAID
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
-
-
-
-
-
[Journal Article] Genetic evidence for association between NOTCH4 and schizophrenia supported by a GWAS follow-up study in a Japanese population2013
Author(s)
Ikeda M, Aleksic B, Yamada K, Iwayama-Shigeno Y, Matsuo K, Numata S, Watanabe Y, Ohnuma T, Kaneko T, Fukuo Y, Okochi T, Toyota T, Hattori E, Shimodera S, Itakura M, Nunokawa A, Shibata N, Tanaka H, Yoneda H, Arai H, Someya T, Ohmori T, Yoshikawa T, Ozaki N, Iwata N
-
Journal Title
Mol Psychiatry
Volume: 18(6)
Issue: 6
Pages: 636-638
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
