Establishment of model system including human ABCC11 transgene

2010 Fiscal Year Final Research Report

• Project/Area Number: 20590332
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Health Sciences University of Hokkaido
• Principal Investigator: OHTA Tohru 北海道医療大学, 個体差健康科学研究所, 准教授 (10223835)
• Co-Investigator(Kenkyū-buntansha): OIKAWA Tsuneyuki 北海道医療大学, 心理科学部, 教授 (80150241) ; OSADA Kazumi 北海道医療大学, 歯学部, 准教授 (00382490) ; YAMADA Takahiro 北海道大学, 大学病院, 助教 (20419948)
• Project Period (FY): 2008 – 2010
• Keywords: ABCC11 / 耳垢 / 乳がん / モデル細胞

Research Abstract

Human earwax is a secreted material from ceruminous apocrine glands, consisting of wet and dry types. Previous analysis demonstrated a SNP(c. 538G> A, rs17822931) in the ABCC11 gene is the earwax-type determinant. Body odor is sometimes one of the nervous matters for human. However, the chemical constitution for the odor was not yet clear. The human body odor is mainly discharged from apocrine glands of persons with G allele.
Curiously, rodent has genomic deletion of the full Abcc11 gene that might be evolutionally advantage to escape from enemy by means of no body odor. Thus, the mouse is a natural model system as dry type of ear wax.
Previous analysis demonstrated another polymorphism(Δ27) of the ABCC11.As the first project, we detected new two people withΔ27 from Japanese. One is a homozygote ofΔ27 and AA, the other is a heterozygote withΔ27 and GA. The second project was how association of breast cancer with the ABCC11 polymorphism. It was possible that the dry type could be associated with reduction of frequency in the estrogen receptor negative breast cancer. We have previously found a supplement which might reduce the body odor. However, scientific evaluation had not yet performed. As the third project, we analyzed the effect of the supplement against the human axillary odor for the people with ear wax G type. We detected significant difference between the people who took the supplement against the no supplement. As the last project, we have interested if the mouse has the wet type ABCC11, how the secreted material was increased or newly discharged. The mouse cell including the ABCC11 might also useful for a study of drug resistance. We constructed the transgene including the human genomic DNA of the ABCC11.However, the adequate expression was never observed in the mouse ES cells. Now we are ongoing to generate the model system for analysis the function of the ABCC11.

Research Products

• [Journal Article] Down-regulation of ABCC11 protein(MRP8) in human breast cancer (2011)
  • Author(s): Sosonkina N, Nakashima M, Ohta T, Niikawa N, Starenki D.
  • Journal Title: Exp Oncol Volume: 33(1) Pages: 42-6
• [Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • 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, et al.
  • Journal Title: Am J Med Genet A Volume: 155A(7) Pages: 1511-6
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010)
  • 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, et al.
  • Journal Title: Nat. Genet Volume: 42(9) Pages: 790-793
• [Journal Article] nese map of the earwax gene frequency : a nation-wide collaborative study by Super Science High School(SSH) Consortium (2009)
  • Author(s): S Sakai, K Imai, T Ogawa, H Iwaoka, M Ishii, S Komori, T Yoshida, H Jumonji, K Iizumi, H Ohshima, T Maeda, A Kanno, K Takahashi, H Kubota, Y Inoue, Y Takahashi, H Onoda, R Uchiyama, M Matsuda, T Akazawa, N Kawamura, T Odagiri, Y Watanabe, Y Matsumoto, S Shinoda, M Terada, M Matsuoka, C Ueno, E Ozaki, S Takaya, T Takeyama, T Hujita, K Kawakatsu, J Takemura, H Maekawa, T Doei, S Ihara, Y Sakaguchi, Y Hirota, A Shindo, H Araki, J Miura, T Morita, T Fujiwara, H Akiyama, S Itome, Y Tanaka, K Nakagawa, S Okamoto, S Yamamoto, T Aoyagi, T Noda, Inoue, I Hirota, K Tanaka, T Nagashima, I Koga, K Watanabe, H Kusadome, H Otsuka, T Takayama, H Miwa, A Hamakawa, K China, N Niikawa, T Ohta, et al.
  • Journal Title: J Hum Genet Volume: 54 Pages: 499-503
• [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene (2009)
  • Author(s): Miyazaki K, Mapendano CK, Fuchigami Y, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura K, Niikawa N, Kishino T.
  • Journal Title: Gene Volume: 432 Pages: 97-101
• [Journal Article] DNAメチル化と遺伝子発現制御のしくみを探る (2009)
  • Author(s): 太田亨、新川詔夫
  • Journal Title: Biophilia Volume: 5(3) Pages: 11-15
• [Presentation] 日本人におけるヒト耳垢遺伝子ABCC11のΔ27アリルの新たな見解 (2010)
  • Author(s): 松田律史, 山田愛子, 小野佑輔, 堀佑輔, スタレンキディミトロ, ソソンキナナディア, 吉浦孝一郎, 太田亨, 新川詔夫
  • Organizer: 第33回日本分子生物学会年会・第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド,神戸
  • Year and Date: 20101207-10
• [Presentation] ホールエクソンキャプチャーによる歌舞伎メーキャップ症候群の解析 (2010)
  • Author(s): 要匡, 塚原正俊, 柳久美子, 藤森一浩, 喜久里育也, 照屋盛実, 今田有美, 鼠尾まい子, 矢野修一, 佐藤友紀, 三輪有希乃, 平野隆, 吉浦孝一郎, 太田亨, 新川詔夫, 成富研二
  • Organizer: 第33回日本分子生物学会年会・第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド,神戸
  • Year and Date: 20101207-10
• [Presentation] Frequency of 27-bp deletion mutation, another earwax determinant, in ABCC11 among the Japanese population (2010)
  • Author(s): A. Yamada, Y. Hori, Y. Ono, N. Matsuda, D. Starenki, N. Sosonkina, K. Yoshiura, T. Ohta, N. Niikawa
  • Organizer: The American Society of Human Genetics, 59th Annual Meeting
  • Place of Presentation: Washigton D. C., Baltimore
  • Year and Date: 20101102-06
• [Presentation] Discovery of a gene for Kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases (2010)
  • Author(s): M. J. Bamshad. M. C. Hannibal, K. J. Buckingham, A. E. Beck, S. B. Ng, M. McMillin, H. Gildersleeve, A. W. Bigham, H. K. Tabor, K. Yoshiura, T. Matsumot, N. Matsumoto, H. Tonoki, K. Naritomi, T. Kaname, T. Nagai, H. Ohashi, K. Kurosawa, J. Hou, T. Ohta, e
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー,大宮
  • Year and Date: 20101027-30
• [Presentation] 日本人におけるヒト耳垢遺伝子ABCC11のΔ27アリル頻度 (2010)
  • Author(s): 山田愛子, 堀佑輔, 小野佑輔, 松田律史, ストランキーディマ, ソソンキナナディア, 吉浦孝一郎, 新川詔夫, 太田亨
  • Organizer: 第55回日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー,大宮
  • Year and Date: 20101027-30
• [Presentation] 歌舞伎メーキャップ症候群のエクソーム解析 (2010)
  • Author(s): 要匡, 塚原正俊, 柳久美子, 藤森一浩, 喜久里育也, 照屋盛実, 今田有美, 鼠尾まい子, 矢野修一, 佐藤友紀, 三輪有希乃, 平野隆, 吉浦孝一郎, 太田亨, 新川詔夫, 成富研二
  • Organizer: 第55回日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー,大宮
  • Year and Date: 20101027-30
• [Presentation] ABCC11 expression and 538G/A poly-morphism in human breast cancer. Sosonkina Nadiya, Starenki Dmytro (2010)
  • Author(s): 太田亨, 吉浦孝一郎, 新川詔夫
  • Organizer: 第55回日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー,大宮
  • Year and Date: 20101027-30
• [Presentation] DNA array-based copy number analysis in chorionic cillus samples(CVS) of spontaneous abortions with normal karyotypes (2009)
  • Author(s): Yamada T, Ohra T, et al.
  • Organizer: The American Society of Human Genetics, 59th Annual Meeting
  • Place of Presentation: Honolulu, Hawaii
  • Year and Date: 20091020-27
• [Patent(Industrial Property Rights)] 体臭抑制剤 (2012)
  • Inventor(s): 長田和実、新川詔夫、太田亨
  • Industrial Property Rights Holder: (特許出願人)学校法人東日本学園北海道医療大学
  • Industrial Property Number: 特願2012-016299
  • Filing Date: 2012-01-30