Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genome

• Project/Area Number: 23592562
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: MINOSHIMA Shinsei 浜松医科大学, メディカルフォトニクス研究センター, 教授 (90181966)
• Co-Investigator(Kenkyū-buntansha): OHISHI Kentaro 浜松医科大学, メディカルフォトニクス研究センター, 助教 (80345826) ; OHTSUBO Masafumi 浜松医科大学, メディカルフォトニクス研究センター, 助教 (10327653) ; ISMAIL Thanseem 浜松医科大学, メディカルフォトニクス研究センター, 特任研究員 (60569846) ; HOTTA Yoshihiro 浜松医科大学, 医学部, 教授 (90173608)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000); Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 開放隅角緑内障 / 正常眼圧緑内障 / コピー数多型 / CNV / ゲノムワイド解析 / マイクロアレイ / 欠失 / 重複 / 高眼圧症

Research Abstract

To detect the genomic copy number variation(s) (CNV) which affect the onset of primary open-angle glaucoma (POAG), 44 members from 34 families with the disease were subjected to the microarray assay. Of 1195 CNV loci found, 8 (6 sites of deletion and 2 of duplication) of patients-specific ones were novel or very rare and considered to change the dosage of gene. Deletion loci contained 7 genes and duplication ones 5 genes. These 12 genes possibly cause POAG by the abnormal increase or decrease of gene copy number.

Research Products

• [Journal Article] Interaction between optineurin and the bZIP transcription factor NRL (2014)
  • Author(s): Wang C, Hosono K, Ohtsubo M, Ohishi K, Gao J, Nakanishi N, Hikoya A, Sato M, Hotta Y, Minoshima S.
  • Journal Title: Cell Biol. Int. Volume: 38(1) Issue: 1 Pages: 16-25
  • DOI: 10.1002/cbin.10174
  • Peer Reviewed
• [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene (2014)
  • Author(s): Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y
  • Journal Title: Ophthalmic Genet Volume: 35 Pages: 25-34
  • Peer Reviewed
• [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene. (2013)
  • Author(s): Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
  • Journal Title: Ophthalmic Genetics Volume: early on line Pages: 1-10
  • Peer Reviewed
• [Journal Article] Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population. (2012)
  • Author(s): Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima M, Hotta Y.
  • Journal Title: PLoS One Volume: 7(2) Issue: 2 Pages: e31036-e31036
  • DOI: 10.1371/journal.pone.0031036
  • Peer Reviewed
• [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes. (2012)
  • Author(s): Thanseem I
  • Journal Title: Biol Psychiatry Volume: 71 Issue: 5 Pages: 410-8
  • DOI: 10.1016/j.biopsych.2011.09.020
  • Peer Reviewed
• [Journal Article] Clinical features of a Japanese case with Bothnia dystrophy (2012)
  • Author(s): Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M. Kondo M, Minoshima S, Hotta Y
  • Journal Title: Ophthalmic Genet Volume: 33(2) Issue: 2 Pages: 83-88
  • DOI: 10.3109/13816810.2011.634877
  • Peer Reviewed
• [Journal Article] Prediction of protein-destabilizing polymorphisms by manual curation with protein structure. (2012)
  • Author(s): Gough CA, Homma K, Yamaguchi-Kabata Y, Shimada MK, Chakraborty R, Fujii Y, Iwama H, Minoshima S, Sakamoto S, Sato Y, Suzuki Y, Tada-Umezaki M, Nishikawa K, Imanishi T, Gojobori T.
  • Journal Title: PLoS One Volume: 7 Issue: 11 Pages: e50445-e50445
  • DOI: 10.1371/journal.pone.0050445
  • Peer Reviewed
• [Journal Article] A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. (2012)
  • Author(s): Izumiyama T, Minoshima S, Yoshida T, Shimizu N.
  • Journal Title: Gene Volume: 511 Issue: 2 Pages: 202-17
  • DOI: 10.1016/j.gene.2012.09.061
  • Peer Reviewed
• [Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population (2012)
  • Author(s): Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Fujita T, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y et al
  • Journal Title: PLoS One Volume: 7(2):e31036 Pages: 1-10
  • Peer Reviewed
• [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations (2011)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S
  • Journal Title: J Hum Genet Volume: 56(7) Pages: 484-490
  • NAID: 10030659974
  • Peer Reviewed
• [Journal Article] Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking : Possible Relationship with Glaucoma Pathology
  • Author(s): Gao J, Ohtsubo M, Hotta Y, Minoshima S
  • Journal Title: PLoS ONE Volume: (in press)
  • Peer Reviewed