Establishment of model system including human ABCC11 transgene

包括人ABCC11转基因的模型系统的建立

• 批准号: 20590332
• 负责人: OHTA Tohru
• 金额: $ 3万
• 依托单位: Health Sciences University of Hokkaido
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20590332/
• 关键词: ABCC11; 耳垢; 乳がん; モデル細胞; ABCC11遺伝子; マウスモデル; 薬剤耐性遺伝子

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.

人耳垢是由耳垢大汗腺分泌的物质，分为干型和湿型。先前的分析表明SNP（c。538G> A，rs17822931）是耳垢型决定因子。狐臭有时是人类的神经问题之一。然而，这种气味的化学成分尚不清楚。人类的体臭主要是由携带G等位基因的人的顶浆腺排出的，奇怪的是，啮齿类动物的Abcc11基因全基因组缺失，这可能是进化上的优势，可以通过没有体臭来逃避敌人。因此，小鼠是一个天然的干型耳垢模型系统。先前的分析证明了ABCC 11的另一个多态性（Δ27）。一个是Δ27和AA的纯合子，另一个是Δ27和GA的杂合子。第二个项目是乳腺癌与ABCC11多态性的关系。干型可能与雌激素受体阴性乳腺癌的发生率降低有关。我们以前发现了一种可以减少体臭的补充剂。然而，尚未进行科学评估。作为第三个项目，我们分析了补充剂对耳垢G型人群的人体腋窝气味的影响。我们发现服用补充剂的人与不服用补充剂的人之间存在显着差异。作为最后一个项目，我们感兴趣的是，如果小鼠具有湿型ABCC 11，分泌物质如何增加或新排出。包括ABCC 11的小鼠细胞也可能用于耐药性的研究。我们构建了ABCC 11基因的转基因载体，但在小鼠ES细胞中未观察到ABCC 11基因的表达。目前正在进行ABCC11功能分析的模型系统的生成。

项目成果

体臭抑制剤

体味抑制剂

• 发表时间: 2012

Discovery of a gene for Kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases

通过外显子组测序和110例基因型-表型关系发现歌舞伎综合症基因

• 发表时间: 2010
• 作者: 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
• 通讯作者: e

DNA array-based copy number analysis in chorionic cillus samples(CVS) of spontaneous abortions with normal karyotypes

基于 DNA 阵列的正常核型自然流产绒毛膜绒毛样本 (CVS) 拷贝数分析

• 发表时间: 2009
• 作者: Yamada T;Ohra T;et al.
• 通讯作者: et al.

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

使用全外显子捕获分析歌舞伎化妆综合症

• 发表时间: 2010
• 作者: Onuma H;et al.;白澤専二;要匡
• 通讯作者: 要匡

症候群ハンドブック

综合症手册

• 发表时间: 2011
• 作者: 池田哲也;井川加織;中村武弘;直野留美;武田龍一郎;石田康;西森利數;通山薫（分担執筆）
• 通讯作者: 通山薫（分担執筆）