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Molecular genetic study of normal morphological variants

Research Project

Project/Area Number 22390066
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionHealth Sciences University of Hokkaido

Principal Investigator

NIIKAWA Norio  北海道医療大学 (00111170)

Co-Investigator(Kenkyū-buntansha) OHTA Tohru  北海道医療大学, 公私立大学の部局等, 准教授 (10223835)
Co-Investigator(Renkei-kenkyūsha) YOSHIURA Koh-ichiro   (00304931)
DMYTRO Starenki   (60405678)
Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥18,070,000 (Direct Cost: ¥13,900,000、Indirect Cost: ¥4,170,000)
Fiscal Year 2012: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Fiscal Year 2011: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2010: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Keywords遺伝学 / 遺伝子 / ヒトゲノム / ヒト正常形質 / 遺伝形質 / 多型 / 連鎖解析 / 関連解析
Research Abstract

Various normal variants, such as tongue curling/flat tongue, widow's peak/flat anterior hairline, hand clasping patterns, arm folding patterns, attached/unattached earlobes and single/double-edged eyelids, are studied in 174 adult volunteers. GWAS was then performed between these variants and 440,794 SNPs in the genome. Under an autosomal dominant model, it seemed that only arm-folding-patterns are associated with SNPs in the SPEN gene. However, sequence analysis of all exons of SPEN in 93 individuals with the "right" arm folding and 80 with the "left" arm folding revealed no SNPs or mutations that differentiate the two groups. There were no associations between any variants and SNPs. The results indicated that the variants studied are not determined by any single-genes.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (27 results)

All 2013 2012 2011 2010

All Journal Article (27 results) (of which Peer Reviewed: 27 results)

  • [Journal Article] Clinical correlations of mutations affecting six components of the SW1/SNF complex: detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y,Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yono S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Mstsumoto N
    • Journal Title

      Am J Med Genet

      Volume: 161A: 1221-1237

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] PharmacogeneticsofhumanABCtransporterABCC11:Newinsights intoapocrineglandgrowthand metabolite secretion2013

    • Author(s)
      Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N
    • Journal Title

      Frontiers in Genetics

      Volume: 306: 1-13

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical correlations of mutations affecting six components of the SW1/SNF complex: detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Niikawa N, et al
    • Journal Title

      Am J Med Genet

      Volume: in press

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] KDM6A point mutations cause Kabuki syndrome2012

    • Author(s)
      Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N
    • Journal Title

      Human Mut

      Volume: 34 (1): 108-110

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] (Japanese Archipelago Human Population Genetics Consortium):The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations2012

    • Author(s)
      Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K, Tokunaga K, Saitou N
    • Journal Title

      J Hum Genet

      Volume: 57: 1-9

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in PRRT2responsible for paroxysmal kinesinic dyskinesias also cause benign familial infantile convulsions2012

    • Author(s)
      Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N
    • Journal Title

      J Hum Genet

      Volume: 57: 338-341

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese: Estimation and Inference using Genome-wide Data2012

    • Author(s)
      He YG, Wang WR, Xu SH, Jin L, Huang W, Wang Y, Yuan WT, Wang HF, Zhao GP, Chu J, Xiao H, Han J, Mukerji M, Sinha A, Scaria V, Chaurasia A, Jha P, Ahmed I, Brahmachari SK, Majumder PP, Mandapati KK, Khurana P, Sudoyo H, Sandraling Y, Suryadi H, Marzuki S, Niikawa N, Gojobori T, Suzuki Y, Koike T, Sakaki Y, Oka A, Inoko H, Naritomi K, Tokunaga K, Nishida N, Ohashi J, Kimura R, Sugano S, Jongsun Jung, Bermseok Oh, Jongyoung Lee, Kim, Hyung-Lae Kim, Ho Ghang, Woo-Yeon Kim KJ, Lee S, Yang JO, Oh S, Yoo HS, Bhak J, Kim S, Phipps ME, Jinam TA, Edo J, Abdulla MA, Zilfalil B-A, Peng HB, Sidek MR, De Ungria CAM, Calacal GC, Delfin FC, Perdigon HB, Salvador JM, Tabbada KA, Cutiongco-de la Paz MLP, Padilla CD, Kumar V, Chen J, Mitchell W, Ong R, Png E, Tan A, Liu ET, Lai PS, Chien-Hsiun Chen, Yuan-Tsong Chen, Wu JY, Ho SF,Kangwanpong D, Srikummool M, Kampuansai J, Palittapongarnpim P, Tongsima S, Ngamphiw C, Kulawonganunchai S, Fucharoen S, Assawamakin A, Kennedy GC, Yao EWY
    • Journal Title

      Scientific Reports

      Volume: 2(355): 1-7

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pharmacogenomics of human ABC transporter ABCC11: New insight into apocrine gland growth and metabolite secretion.2012

    • Author(s)
      Toshihisa Ishikawa, Yu Toyoda, Koh-ichiro Yoshiura, Norio Niikawa
    • Journal Title

      Front. Gene.

      Volume: 3 Pages: 1-13

    • DOI

      10.3389/fgene.2012.00306

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan Populations.2012

    • Author(s)
      Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K. Saitou N
    • Journal Title

      Journal of Human Genetics

      Volume: 57巻 Issue: 12 Pages: 787-79

    • DOI

      10.1038/jhg.2012.114

    • NAID

      10031145887

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familialinfantile convulsions.2012

    • Author(s)
      Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
    • Journal Title

      J Hum Genet

      Volume: 57 Issue: 5 Pages: 1-4

    • DOI

      10.1038/jhg.2012.23

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paleolithic Contingent in Modern Japanese : Estimation and Inference using Genome-wide Data2012

    • Author(s)
      He Y
    • Journal Title

      Sci Rep

      Volume: 2 Issue: 1 Pages: 355-355

    • DOI

      10.1038/srep00355

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families2011

    • Author(s)
      Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
    • Journal Title

      Mov Disord

      Volume: 26: 761-763

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion2011

    • Author(s)
      Amani D, Ravangard F, Niikawa N, Yoshiura K, Karimzadeh M, Dehaghani AS, Ghaderi A
    • Journal Title

      J Reprod Immunol

      Volume: 88(1): 42-47

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Down-regulation of ABCC11 protein (MRP8) in human breast cancer2011

    • Author(s)
      Sosonkina N, Nakashima M, Ohta T, Niikawa N, Starenki D
    • Journal Title

      Exp Oncol

      Volume: 33: 42-46

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome2011

    • Author(s)
      Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K
    • Journal Title

      Proc Natl Acad Sci (PNAS)

      Volume: 108 (36): 14914-14919

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] SMOC1is essential for ocular and limb development in humans and mice2011

    • Author(s)
      Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H
    • Journal Title

      Am J Hum Genet 7

      Volume: 88(1): 30-41

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011

    • Author(s)
      Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ
    • Journal Title

      Am J Med Genet A

      Volume: 155A(7):1511-1516

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Down-regulation of ABCC11 protein (MEP8) in human breast cancer2011

    • Author(s)
      Sosonkina N, Nakashima M, Ohta T Niikawa N, Starenki D
    • Journal Title

      Exp Oncol

      Volume: 33 Pages: 42-46

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome2011

    • Author(s)
      Arima K, Kinoshita A, Niikawa N, et al
    • Journal Title

      Proc Natl Acad Sci (PNAS)

      Volume: 108 Pages: 14914-14919

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome2010

    • Author(s)
      Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, NiikawaN, Nickerson DA, BamshadMJ, Shendure J
    • Journal Title

      Nature Genet

      Volume: 42: 790-793

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array2010

    • Author(s)
      Oikawa M, Kuniba H, Kondo T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K
    • Journal Title

      Eur J Med Genet

      Volume: 63: 244-249

    • NAID

      120006984921

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010

    • Author(s)
      Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Kishino T,Kinoshita A, Niikawa N, Hirano A, Yoshiura K
    • Journal Title

      J Hum Genet

      Volume: 55: 124-126

    • NAID

      10030733799

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome2010

    • Author(s)
      Matsuzawa N, Kondo K, Shimozato K, Nagao T, Nakano M, Hirano A, Niikawa N, Yoshiura K
    • Journal Title

      Am J Med Genet

      Volume: 152 A: 2262-2267

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki Syndrome.2010

    • Author(s)
      Ng SB
    • Journal Title

      Nature Genetics

      Volume: 42(9) Pages: 790-793

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13or 18p11 : Linkage analysis with clipped fingernail DNA on high density SNP array.2010

    • Author(s)
      Oikawa M
    • Journal Title

      European Journal of Medical Genetics

      Volume: 53 Pages: 244-249

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p122010

    • Author(s)
      Tsuda M
    • Journal Title

      Journal of Human Genetics

      Volume: 55 Pages: 124-126

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.2010

    • Author(s)
      Matsuzawa N
    • Journal Title

      Americal Journal of Medical Genetics

      Volume: 152A Pages: 2262-2267

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed

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Published: 2010-08-23   Modified: 2019-07-29  

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