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Researcher Information

last modified:2019/02/15

Associate Professor HORIKE Shin-ichi

Mail Laboratory Website

Faculty, Affiliation

Advanced Science Research Center

College and School Educational Field

Graduate School of Medical Science
United Graduate School of Child Depelopment
School of Medicine, College of Medical, Pharmaceutical and Health Sciences


HORIKE LAB TEL:076-265-2775 FAX:076-234-4537

Academic Background

【Academic background(Bachelor's Degree)】
Shimane University Chemistry 199503
Life Science


Tottori University Research Fellow(2000/10/01-2001/07/14)
Lawrence Berkeley National Laboratory Life Science Division Research Fellow(2001/07/15-2004/06/30)
The Hospital for Sick Children Genetics & Genome Biology Research Fellow(2004/07/01-2006/09/30)
University of Tokushima Institute for enzyme research Assistant Professor(2006/10/01-2007/10/31)
Kanazawa University(2007/11/01-2012/03/31)

Year & Month of Birth


Academic Society

The American Society of Human Genetics in USA
International Society for Autism Research




Speciality Keywords

Genomic Imprinting, Epigenetics, Autism, Rett Syndrome

Research Themes

Characterization of autism-associated genes on human X chromosome

Chromatin higher-order structure and dynamics at the imprinted 15q11-q13 locus

Long-distance chromatin mechanisms controlling imprinted expression on 7q32

Identification of a novel regulatory element of the OXTR gene


  •  Nagai, M., Meguro-Horike, M., Horike, S.  Epigenetic defects related to assisted reproductive technologies: Large offspring syndrome (LOS) INTECH 2012/03
  •  [How the methyl-CpG binding protein-related epigenetic disease turns on the genes that produce its symptoms]. 50 8 978-84


  •  15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain. Yasui DH,Scoles HA,Horike S,Meguro-Horike M,Dunaway KW,Schroeder DI,Lasalle JM Hum Mol Genet 20 22 4311-23
  •  Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. Meguro-Horike M,Yasui DH,Powell W,Schroeder DI,Oshimura M,Lasalle JM,Horike S Hum Mol Genet 20 19 3798-810
  •  Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome. Hori N,Nagai M,Hirayama M,Hirai T,Matsuda K,Hayashi M,Tanaka T,Ozawa T,Horike S Anim Reprod Sci 122 3-4 303-12
  •  Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering. Abe S,Tanaka H,Notsu T,Horike S,Fujisaki C,Qi DL,Ohhira T,Gilley D,Oshimura M,Kugoh H Genome Integr 1 1 6
  •  Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Horike S,Ferreira JC,Meguro-Horike M,Choufani S,Smith AC,Shuman C,Meschino W,Chitayat D,Zackai E,Scherer SW,Weksberg R Am J Med Genet A 149A 11 2415-23

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  •  A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Vincent JB,Choufani S,Horike S,Stachowiak B,Li M,Dill FJ,Marshall C,Hrynchak M,Pewsey E,Ukadike KC,Friedman JM,Srivastava AK,Scherer SW Psychiatr Genet 18 3 101-9
  •  DLX5 expression is monoallelic and Dlx5 is up-regulated in the Mecp2-null frontal cortex. Miyano M,Horike S,Cai S,Oshimura M,Kohwi-Shigematsu T J Cell Mol Med 12 4 1188-91
  •  An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. Vincent JB,Horike SI,Choufani S,Paterson AD,Roberts W,Szatmari P,Weksberg R,Fernandez B,Scherer SW J Med Genet 43 5 429-34
  •  Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Horike S,Cai S,Miyano M,Cheng JF,Kohwi-Shigematsu T Nat Genet 37 1 31-40
  •  Construction of a novel human artificial chromosome vector for gene delivery. Katoh M,Ayabe F,Norikane S,Okada T,Masumoto H,Horike S,Shirayoshi Y,Oshimura M Biochem Biophys Res Commun 321 2 280-90
  •  Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Horike S,Mitsuya K,Meguro M,Kotobuki N,Kashiwagi A,Notsu T,Schulz TC,Shirayoshi Y,Oshimura M Hum Mol Genet 9 14 2075-83
  •  FunctionalInvestigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation. Guo, L., Yamashita, H., Kou, I., Takimoto, A., Meguro-Horike, M., Horike, S., Sakuma, T., Miura, S., Adachi, T., Yamamoto, T., Ikegawa, S., Hiraki, Y., Shukunami, C. PLoS Genetics 12 1 2016
  •  Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study. Munesue, T., Nakamura, H., Kikuchi, M., Miura, Y., Takeuchi, N., Anme, T., Nanba, E., Adachi, K., Tsubouchi, K., Sai, Y., Miyamoto, K., Horike, S., Yokoyama, S., Nakatani, H., Niida, Y., Kosaka, H., Minabe, Y., Higashida, H. Frontiers in Psychiatry 7:2 2016
  •  Pancreatic solitary fibrous tumor causing ectopic adrenocorticotropic hormone syndrome. Murakami, K., Nakamura, Y., Felizola, S.J., Morimoto, R., Satoh, F., Takanami, K., Katakami, H., Hirota, S., Takeda, Y., Meguro-Horike, M., Horike, S., Unno, M., Sasano, H. Molecular and Cellular Endocrinology 436 268-273 2016
  •  Cumulative impact of large chromosomal duplications and polychlorinated biphenyl exposure on DNA methylation, chromatin, and expression of autism candidate gene Dunaway, K., Islam, S., Coulson, J., Lopez, R., Ciernia, A.V., Chu, R., Yasui, D., Pessah, I., Lott, P., Mordaunt, C., Meguro-Horike, M., Horike, S., Korf, I., LaSalle, J.M. Cell Reports 2016/10/27

Conference Presentations

Arts and Fieldwork


Theme to the desired joint research

Grant-in-Aid for Scientific Research

○「核内足場クロマチン構造を介したncRNA, IPWの作動機序の解明」(2015-2016) 

Classes (Bachelors)

Classes (Graduate Schools)

○Seminar on Animal Experimentation(2017)
○Seminar on Advanced Medical Science(2017)
○Gene Engineering Basic Course(2017)
○Seminar on Animal Experimentation(2016)

International Project

International Students

Lecture themes

Others (Social Activities)

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