Identification and functional analysis of noncoding SNPs causative for genetic disorders
| Project/Area Number |
18KT0024
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 特設分野 |
|---|
| Research Field |
Complex Systems Disease Theory
|
|---|
| Research Institution | Kyoto University (2020)
Kyushu University (2018-2019) |
|---|
Principal Investigator |
OKi Shinya 京都大学, 医学研究科, 特定准教授 (90452713)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
竹本 龍也 徳島大学, 先端酵素学研究所(オープンイノベ), 教授 (30443899)
沢津橋 俊 徳島大学, 先端酵素学研究所(オープンイノベ), 特任講師 (70535103)
|
|---|
| Project Period (FY) |
2018-07-18 – 2021-03-31
|
| Project Status |
Completed (Fiscal Year 2020)
|
| Budget Amount *help |
¥18,590,000 (Direct Cost: ¥14,300,000、Indirect Cost: ¥4,290,000)
Fiscal Year 2020: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Fiscal Year 2019: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000)
Fiscal Year 2018: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
|
|---|
| Keywords | GWAS / SNP / ChIP-seq / 転写因子 / Noncoding SNP |
|---|
| Outline of Final Research Achievements |
GWAS and other case-control studies have identified many disease-associated single nucleotide polymorphisms (marker SNPs). However, since about 90% of disease-associated marker SNPs are located in non-coding regions, it is very difficult to understand the causal relationship between SNPs, which genes they affect, and why they lead to diseases. In this study, we focused on SNPs in non-coding regions that are associated with diseases, and aimed to elucidate the disease process caused by them. As a result, we identified a region where multiple transcription factors involved in immunity and inflammation bind within the linkage disequilibrium region of disease-related SNPs in the non-coding region.
|
| Academic Significance and Societal Importance of the Research Achievements |
本研究はこれまで見過ごされてきたnon-coding領域のSNPに着目し、転写因子結合情報をフル活用してそのcausal SNPの同定を目指すため、統計遺伝学を駆使した従来のfine-mappingとは大きく異なるアプローチである。本研究の成果は罹患リスクを予測するためのマーカとしてそのまま用いることができるため、coding領域に偏っていた従来の予測精度を飛躍的に引き上げることが期待される。
|
Report
(3 results)
Research Products
(62 results)
-
[Journal Article] DDBJ Data Analysis Challenge: a machine learning competition to predict <i>Arabidopsis</i> chromatin feature annotations from DNA sequences2020
Author(s)
Eli Kaminuma, Yukino Baba, Masahiro Mochizuki, Hirotaka Matsumoto, Haruka Ozaki, Toshitsugu Okayama, Takuya Kato, Shinya Oki, Takatomo Fujisawa, Yasukazu Nakamura, Masanori Arita, Osamu Ogasawara, Hisashi Kashima, Toshihisa Takagi
-
Journal Title
Genes & Genetic Systems
Volume: 95
Issue: 1
Pages: 43-50
DOI
NAID
ISSN
1341-7568, 1880-5779
Year and Date
2020-02-01
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
[Journal Article] Paternal age affects offspring’s behavior possibly via an epigenetic mechanism recruiting a transcriptional repressor REST2019
Author(s)
Yoshizaki, K., Koike, T., Kimura, R., Kikkawa, T., Oki, S., Koike, K., Mochizuki, K., Inada, H., Kobayashi, H., Matsui, Y., Kono, T., Osumi, N.
-
Journal Title
DOI
Related Report
Open Access
-
-
-
-
-
[Journal Article] Activation of unliganded FGF receptor by extracellular phosphate potentiates proteolytic protection of FGF23 by its O-glycosylation2019
Author(s)
Takashi Y, Kosako H, Sawatsubashi S, Kinoshita Y, Ito N, Tsoumpra MK, Nangaku M, Abe M, Matsuhisa M, Kato S, Matsumoto T, Fukumoto S
-
Journal Title
Proc Natl Acad Sci U S A
Volume: 116
Issue: 23
Pages: 11418-11427
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
-
-
-
-
-
[Journal Article] Repression of somatic genes by selective recruitment of HDAC3 by BLIMP1 is essential for mouse primordial germ cell fate determination2018
Author(s)
Mochizuki Kentaro, Hayashi Yohei, Sekinaka Tamotsu, Otsuka Kei, Ito-Matsuoka Yumi, Kobayashi Misato, Oki Shinya, Takehara Asuka, Kono Tomohiro, Osumi Noriko, Matsui Yasuhisa
-
Journal Title
Cell Reports
Volume: 24
Issue: 10
Pages: 2682-2693
DOI
Related Report
Peer Reviewed / Open Access
-
[Journal Article] LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation2018
Author(s)
K. Anan, S. Hino, N. Shimizu, A. Sakamoto, K. Nagaoka, R. Takase, K. Kohrogi, H. Araki, Y. Hino, S. Usuki, S. Oki, H. Tanaka, K. Nakamura, F. Endo, and M. Nakao
-
Journal Title
Nucleic Acids Res.
Volume: 18
Issue: 11
Pages: 5441-5454
DOI
Related Report
Peer Reviewed / Open Access
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
