Comprehensive analysis of alternative splicing variants identified from tonotopical differences in the mouse cochlea

• Project/Area Number: 25670715
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: YOSHIMURA Hidekane 信州大学, 医学部, 助教(特定雇用) (10612997)
• Co-Investigator(Renkei-kenkyūsha): NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166) ; USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 内耳 / 遺伝子発現 / 難聴 / 耳科学 / 聴覚 / 遺伝子 / マイクロアレイ

Outline of Final Research Achievements

The mammalian cochlea is a spiral shaped auditory sensing organ, with the mouse cochlea forming 2.5 turns around its axis. This cochlear structure has an important role in the mechanism for distinguishing pitch (sound frequency). This mechanism were based on the synchronized vibration of the basilar membrane is thought to be caused by differences in the thickness and width of the basilar membrane. In this study, we performed exon level gene expression analysis using the previous cDNA microarray data to identify alternative splicing variants in specific regions of the cochlea. As a result, we identified cochlear turn specific alternative splicing variants in Otog, Strc, Tectb and Slc26a4 genes. This dataset will provide a valuable base for understanding the detailed mechanisms not only for specific frequency deterioration in cases of hearing loss but also those for normal hearing.

Research Products

• [Journal Article] Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports. (2015)
  • Author(s): Yoshimura H, Oshikawa C, Nakayama J, Moteki H, Usami SI.
  • Journal Title: Ann Otol Rhinol Laryngol Volume: 124
  • Peer Reviewed / Open Access
• [Journal Article] Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness. (2015)
  • Author(s): Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami SI.
  • Journal Title: Ann Otol Rhinol Laryngol Volume: 124
  • Peer Reviewed / Open Access
• [Journal Article] USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms. (2015)
  • Author(s): Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami SI.
  • Journal Title: Ann Otol Rhinol Laryngol Volume: 124
  • Peer Reviewed / Open Access
• [Journal Article] Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1 (2014)
  • Author(s): Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.
  • Journal Title: PLoS One Volume: 11 Issue: 3 Pages: e90688-e90688
  • DOI: 10.1371/journal.pone.0090688
  • Peer Reviewed / Open Access
• [Journal Article] Deafness gene expression patterns in the mouse cochlea found by microarray analysis. (2014)
  • Author(s): Yoshimura H, Takumi Y, Nishio SY, Suzuki N, Iwasa Y, Usami S.
  • Journal Title: PLoS One. Volume: 9 Issue: 3 Pages: e92547-e92547
  • DOI: 10.1371/journal.pone.0092547
  • Peer Reviewed
• [Presentation] Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. (2016)
  • Author(s): Nishio S, Takumi Y, Yoshimura H, Usami S.
  • Organizer: ARO 39th MidWinter Metting
  • Place of Presentation: San Diego, California, USA
  • Year and Date: 2016-02-22
  • Int'l Joint Research
• [Presentation] Microarray Analysis of Tonotopic Gene Expression Patterns in the Mouse Cochlea (2014)
  • Author(s): Yosimura H, Nishio S, Takumi Y, Iwasa Y, Usami S.
  • Organizer: Inner Ear Biology Workshop
  • Place of Presentation: 京都国際会議場
  • Year and Date: 2014-11-01 – 2014-11-04