RIKEN BioResource Research Center Next Generation Human Disease Model Team

Team Leader: Takanori Amano (Ph.D.)

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Research Summary

For development of mouse models which recapitulate pathology of intractable diseases, aging-associated diseases and lifestyle diseases, the genome-editing technology is used to produce knock-in point and multiple mutant mice based on genomic information of patients. The developed mice are analyzed and evaluated through the standard platform built by the International Mouse Phenotyping Consortium. We collaborate with external clinical experts for disease mechanisms and pharmacokinetics to establish POC (proof-of-concept) in preclinical studies. The disease models together with associated information useful for diagnosis, therapies and drug discovery will be distributed to the biomedical research community.

Main Research Fields

Biology

Related Research Fields

Biological Sciences
Medicine, Dentistry & Pharmacy
Genetics/Chromosome dynamics
Developmental biology
Human genetics

Keywords

disease model
mouse genetics
genome
variation

Selected Publications

Papers with an asterisk(*) are based on research conducted outside of RIKEN.

1.*Seo H+, Amano T+, Seki R, Sagai T, Kim J, Cho SW and Shiroishi T.:
“Upstream Enhancer Elements of Shh Regulate Oral and Dental Patterning.”
J. Dent. Res. 97, 1055-1063. (2018).
(+Authors equally contributed.)
2.*Mouri K, Sagai T, Maeno A, Amano T, Toyoda A and Shiroishi T.:
“Enhancer Adoption Caused by Genomic Insertion Elicits Interdigital Shh Expression and Syndactyly in Mouse.”
Proc. Natl. Acad. Sci. U. S. A. 115, 1021-1026. (2018).
3.*Sagai T+, Amano T+, Maeno A, Kiyonari H, Seo H, Cho SW and Shiroishi T.:
“SHH Signaling Directed by Two Oral Epithelium-Specific Enhancers Controls Tooth and Oral Development.”
Sci. Rep. 7, 13004. (2017).
(+Authors equally contributed.)
4.*Amano T, Sagai T, Seki R and Shiroishi T.:
“Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh.”
G3 7, 2991-2998. (2017)
5.*Sagai T, Amano T, Maeno A, Kimura T, Nakamoto M, Takehana Y, Naruse K, Okada N, Kiyonari H and Shiroishi T.
“Evolution of Shh Endoderm Enhancers during Morphological Transition from Ventral Lungs to Dorsal Gas Bladder.”
Nat. Commun. 3, 8:14300. (2017).
6.*Tsukiji N+, Amano T+, and Shiroishi T.:
“A Novel Regulatory Element for Shh Expression in the Lung and Gut of Mouse Embryos.”
Mech. Dev. 131, 127-136. (2014).
(+Authors equally contributed.)
7.*Tamura M, Hosoya M, Fujita M, Iida T, Amano T, Maeno A, Kataoka T, Otsuka T, Tanaka S, Tomizawa S and Shiroishi T.:
“Overdosage of Hand2 Causes Limb and Heart Defects in the Human Chromosomal Disorder Partial Trisomy Distal 4q.”
Hum. Mol. Genet. 22, 2471-2481. (2013).
8.*Yokoyama H, Maruoka T, Aruga A, Amano T, Ohgo S, Shiroishi T and Tamura K.:
“Prx-1 Expression in Xenopus laevisScarless Skin-Wound Healing and Its Resemblance to Epimorphic Regeneration.”
J Invest. Dermatol. 131, 2477-2485. (2011).
9.*Sagai T, Amano T, Tamura M, Mizushina Y, Sumiyama K and Shiroishi T.:
“A Cluster of Three Long-Range Enhancers Directs Regional Shh Expression in the Epithelial Linings.” Development 136, 1665-1674. (2009).
10.*Amano T, Sagai T, Tanabe H, Mizushina Y, Nakazawa H and Shiroishi T.:
“Chromosomal Dynamics at the Shh Locus: Limb Bud-Specific Differential Regulation of Competence and Active Transcription.”
Dev. Cell 16, 47-57. (2009).

Lab Members

Principal investigator

Takanori Amano: Team Leader

Core members

Tra Thi Huong Dinh: Research & Development Scientist
Chigusa Imura: Technical Staff II
Mayu Shiokawa: Technical Staff II

Contact Information

3-1-1 Koyadai, Tsukuba,
Ibaraki, 305-0074