Shinya Yamamoto, D.V.M., Ph.D.
Shinya Yamamoto, D.V.M., Ph.D.
- Assistant Professor
Department of Molecular and Human Genetics (primary), Department of Neuroscience (secondary), Graduate Program in Developmental Biology
Baylor College of Medicine
Houston, Texas United States
Jan and Dan Duncan Neurological Research Institute (NRI)
Texas Children's Hospital
Houston, Texas United States
- Co-Director, Drosophila Core
Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN)
- SFARI Investigator
Simons Foundation Autism Research Initiative (SFARI)
- Jan and Dan Duncan Neurological Research Institute (Lab)
1250 Moursund St.
Houston, TX 77030
- BS from University of Tokyo
- 03/2005 - Tokyo, Japan
- DVM from Ministry of Agriculture, Forestry and Fisheries of Japan
- 04/2005 - Tokyo, Japan
- PhD from Baylor College of Medicine
- 03/2012 - Houston, Texas United States
- Post-Doctoral Fellowship at Baylor College of Medicine
- 12/2013 - Houston, Texas United States
- New Disease Gene Discovery
- Integration of Drosophila Genetics and Human Genomics
- Cell-Cell Communication in Development and Disease
- Facilitation of the Use of Model Organisms in Human Disease Diagnosis and Research
Professional StatementMany pediatric diseases and conditions are caused by mutations found in the patients’ genomic DNA. Genetic mutations responsible for some of these disorders have been successfully identified, which has opened up new doors for researchers to develop better diagnostic tools and new treatments. However for most neurological and psychiatric diseases, the causes are yet to be identified.
The human genome contains ~25,000 genes, yet the biological functions of more than 80% of them are not well characterized. Yamamoto lab aims to bridge this gap using powerful genetic tools available in the model organism, Drosophila melanogaster (fruit flies) that allow for rapid discovery and functional elucidation of genes that play key roles in the development and maintenance of nervous system.
Using the information obtained from large-scale fly screens and combining this with large whole exome sequence (WES) datasets from thousands of patients with undiagnosed diseases (in collaboration with Drs. Jim Lupski, Richard Gibbs, Michael Wangler and the Baylor-Hopkins Center for Mendelian Genomics), we have identified a number of new human disease-causing genes. Furthermore, by extensively studying the function of the fly homologs of these disease genes, we have revealed molecular mechanisms by which mutations in these genes cause certain disease conditions.
We are especially interested in classes of genes that regulate cell-cell communication in development and disease. Notch signaling is a key pathway in the development of almost all organs, and defects in Notch signaling leads to different congenital disorders, stroke and cardiovascular diseases, as well as in many types of cancer in both children and adults. Dopamine signaling, on the other hand, regulates diverse aspects of neuronal function, and its dysfunction is seen in diverse neurodevelopmental (e.g. autism spectrum disorders, ADHD/ADD), neurological (e.g. dystonia, restless legs syndrome), psychiatric (e.g. schizophrenia, mood disorders, addiction), as well as neurodegenerative conditions (e.g. Parkinson’s disease).
We aim to identify and characterize novel genes in these pathways and understand their precise functions in vivo using genetic, cell/molecular biological, biochemical and electrophysiological methodologies. Our goal is to provide a better understanding of the molecular mechanisms underlying these diseases, allowing researchers to explore novel drug targets and potential therapies towards a cure.
- GRS: Notch Signaling in Development, Regeneration and Disease
- Conference (Organizer, 2014)
- Sponsor: Gordon Research Conference
- Liu N, Schoch K, Luo X, Pena DML, Bhavana VH, Kukolich MK...Undiagnosed Diseases Network (UDN)...Shashi V#, Yamamoto S#. (# Corresponding Authors) "Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.." Hum. Mol. Genet. 2018;In press Pubmed PMID: 29726930
- Wangler MF*, Yamamoto S*, Chao HT, Posey JE, Westerfield M, Postlethwait J; Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ. (* Equal Contribution) "Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.." Genetics. 2017 Sep 1;207(1):9-27. Pubmed PMID: 28874452
- David-Morrison G, Xu Z, Rui YN, Charng WL, Jaiswal M, Yamamoto S, Xiong B, Zhang K, Sandoval H, Duraine L, Zhang S, Bellen HJ "WAC regulates mTOR activity through the TTT-Pontin/Reptin complex." Dev Cell. 2016 Jan 25;36(2):139-151. Pubmed PMID: 26812014
- Jakobsdottir J*, van der Lee SJ*, Bis JC*, Chouraki V*, Li-Kroeger D*, Yamamoto S*, et al., (*Equal Contribution) "Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.." 2016 Oct 20;12(10):e1006327. Pubmed PMID: 27764101
- Wangler MF*, Yamamoto S*, Bellen HJ. (*Equal Contribution) "Fruit flies in biomedical research.." Genetics. 2015 Jan 26;199(3):639. Pubmed PMID: 25624315
- Bellen HJ, Yamamoto S "Morgan’s legacy: fruit flies and the functional annotation of conserved genes." Cell. 2015 Sep 24;163(1):12-14. Pubmed PMID: 26406362
- Jaiswal M, Haelterman NA, Sandoval H, Xiong B, Donti T, Kalsotra A, Yamamoto S, Cooper TA, Graham BH, Bellen HJ "Impaired mitochondrial energy production causes light induced photoreceptor degeneration independent of oxidative stress." PLoS Biol. 2015 Jul 15;13(7):e1002197. Pubmed PMID: 25811491
- Liu L, Zhang K, Sandoval H, Yamamoto S, Jaiswal M, Sanz E, Li Z, Hui J, Graham BH, Quintana A, Bellen HJ. "Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.." Cell. 2015 Jan 15;160:177. Pubmed PMID: 25594180
- Yamamoto S*, Jaiswal M*, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J et al. (* Equal Contribution) "A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases." Cell. 2014 Sep 25;159(1):200-214. Pubmed PMID: 25259927
- Sandoval H, Yao CK, Chen K, Jaiswal M, Donti T, Lin YQ, Bayat V, Xiong B, Zhang K, David G, Charng WL, Yamamoto S, Duraine L, Graham BH, Bellen HJ. "Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production.." eLife. 2014 Oct 14;3:e03558. Pubmed PMID: 25313867
- Charng WL, Yamamoto S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Gibbs S, Lu HC, Chen K, Giagtzoglou N, Bellen HJ "Drosophila Tempura, a novel protein prenyltransferase α subunit, regulates notch signaling via Rab1 and Rab11." PLoS Biol. 2014 Jan 28;12(1):e1001777. Pubmed PMID: 24492843
- Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng WL, Busby T, Jawaid A, David G, Jaiswal M, Venken KJ, Yamamoto S, Chen R, Bellen HJ. "Large-scale identification of chemically induced mutations in Drosophila melanogaster.." Genome Res. 2014 Sep 25;24(10):1707. Pubmed PMID: 25258387
- Yamamoto S, Charng WL, Rana NA, Kakuda S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Wang H, Haltiwanger RS, Bellen HJ "A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands." Science. 2012 Nov 30;338(6111):1229-32. Pubmed PMID: 23197537
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