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Researcher Information

last modified:2020/03/26

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


  •  Preparation and some properties of perfluoroalkoxy-substituted phthalocyanine complexes of iron (III), nickel (II) and zinc (II). Sugimori T, Horike S, Handa M, Kasuga K. Inorganica Chimica Acta 278 2 253-255 1998/09/01
  •  Catalytic oxygenation of olefin with dioxygen and tetra-t-butylphthalocyanine complexes in the presence of sodium borohydride. Sugimori T, Horike S, Tumura S, Handa M, Kasuga K. Inorganica Chimica Acta 283 1 275-278 1998/12/01
  •  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 Human Molecular Genetics 9 14 2075-2083 2000/09/01
  •  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 Biochemical and Biophysical Research Communications 321 2 280-290 2004/08/01
  •  Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Horike S,Cai S,Miyano M,Cheng JF,Kohwi-Shigematsu T Nature Genetics 37 1 31-40 2005/01/01

show all

  •  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 Journal of Medical Genetics 43 5 429-434 2006/03/01
  •  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 Psychiatric Genetics 18 3 101-109 2008/06/01
  •  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 Journal of Cellular and Molecular Medicine 12 4 1188-1191 2008/08/01
  •  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 American Journal of Medical Genetics PartA 149A 11 2415-2423 2009/10/01
  •  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 Integrity 1 1 6 2010/05/01
  •  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 3-4 303-312 2010/12/01
  •  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 Human Molecular Genetics 20 19 3798-3810 2011/10/01
  •  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 Human Molecular Genetics 20 22 4311-4323 2011/11/01
  •  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 2016/01/01 
  •  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 2016/01/01 
  •  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 17 11 3035-3048 2016/10/27
  •  Pancreatic solitary fibrous tumor causing ectopic adrenocorticotropic hormone syndrome. Murakami K, Nakamura Y, Felizola SJ, 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 2016/11/01
  •  UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons. Lopez SJ, Dunaway K, Islam MS, Mordaunt C, Vogel Ciernia A, Meguro-Horike M, Horike SI, Segal DJ, LaSalle JM Epigenetics 12 11 982-990 2017/05/01 
  •  Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay. Hanai S, Sukigara S, Dai H, Owa T, Horike SI, Otsuki T, Saito T, Nakagawa E, Ikegaya N, Kaido T, Sato N, Takahashi A, Sugai K, Saito Y, Sasaki M, Itoh M The American journal of pathology 187 5 1177-1185 2017/05/01 
  •  ROCK-dependent phosphorylation of NUP62 regulates p63 nuclear transport and squamous cell carcinoma proliferation. Hazawa M, Lin DC, Kobayashi A, Jiang YY, Xu L, Dewi FRP, Mohamed MS, Hartono, Nakada M, Meguro-Horike M, Horike SI, Koeffler HP, Wong RW EMBO reports 19 1 73-88 2017/12/01 
  •  Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia Mitsuhiro Kometani, Takashi Yoneda, Masashi Demura, Hiroshi Koide, Koshiro Nishimoto, Kuniaki Mukai, Celso E. Gomez-Sanchez, Tadayuki Akagi, Takashi Yokota, Shin-ichi Horike, Shigehiro Karashima, Isamu Miyamori, Masakazu Yamagishi, Yoshiyu Takeda Scientific Reports 7 1 11205 2017/12/01 
  •  Baf53a is involved in survival of mouse ES cells, which can be compensated by Baf53b Bo Zhu, Atsushi Ueda, Xiaohong Song, Shin-ichi Horike, Takashi Yokota, Tadayuki Akagi Scientific Reports 7 1 14059 2017/12/01 
  •  Epigenetic Regulation of Aldosterone Synthase Gene by Sodium and Angiotensin II. Takeda Y, Demura M, Wang F, Karashima S, Yoneda T, Kometani M, Hashimoto A, Aono D, Horike SI, Meguro-Horike M, Yamagishi M, Takeda Y Journal of the American Heart Association 7 10 2018/05/01
  •  Bromodomain protein BRD4 inhibitor JQ1 regulates potential prognostic molecules in advanced renal cell carcinoma. Sakaguchi T, Yoshino H, Sugita S, Miyamoto K, Yonemori M, Osako Y, Meguro-Horike M, Horike SI, Nakagawa M, Enokida H Oncotarget 9 33 23003-23017 2018/05/01
  •  Amplicons in breast cancers analyzed by multiplex ligation-dependent probe amplification and fluorescence In Situ hybridization. Ooi A, Inokuchi M, Horike SI, Kawashima H, Ishikawa S, Ikeda H, Nakamura R, Oyama T, Dobash Y Human pathology 85 33-43 2018/10/01
  •  Active K-RAS induces the coherent rotation of epithelial cells: A model for collective cell invasion in vitro. Hirata E, Ichikawa T, Horike SI, Kiyokawa E Cancer science 109 12 4045-4055 2018/10/01
  •  Cancer stem-like properties and gefitinib resistance are dependent on purine synthetic metabolism mediated by the mitochondrial enzyme MTHFD2. Nishimura T, Nakata A, Chen X, Nishi K, Meguro-Horike M, Sasaki S, Kita K, Horike SI, Saitoh K, Kato K, Igarashi K, Murayama T, Kohno S, Takahashi C, Mukaida N, Yano S, Soga T, Tojo A, Gotoh N Oncogene 38 14 2464-2481 2018/12/01
  •  Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y Brain : a journal of neurology 142 3 560-573 2019/03/01
  •  MMCT-mediated chromosome engineering technique applicable to functional analysis of lncRNA and nuclear dynamics. Meguro-Horike M, Horike S Methods in molecular biology 2014/12/01

Conference Presentations

  • A noncoding imprinted RNA, MESTIT1 is essential for the repression in cis of KLF14(conference:62th Annual Meeting; The American Society of Human Genetics)(2012/11/06)
  • The spliced lncRNA SNORD116HG is essential for the high order chromatin dynamics of the MAGEL2 and NDN locus over long distance.(2018/09/19)

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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