Establishment of model system including human ABCC11 transgene

人耳垢是由蜡质顶分泌腺分泌的分泌物，分为湿性和干性两种类型。先前的分析证明ABCC11基因中的一个SNP(c.538G&gt；A，rs17822931)是耳蜡型决定因素。体味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。G等位基因携带者的体臭主要从大汗腺中排出，而啮齿动物的ABCC11基因全基因组缺失可能是进化上的优势，可以通过无体味的方式逃避敌人。因此，小鼠是干性耳垢的天然模型系统。先前的分析证实了ABCC11的另一个多态(Δ27)。作为第一个项目，我们检测到来自日本的两个新的Δ27携带者。一个是Δ27和AA的纯合子，另一个是Δ27和GA的杂合子。第二个项目是如何将乳腺癌与ABCC11基因多态联系起来。在雌激素受体阴性的乳腺癌中，干型可能与频率降低有关。我们之前发现了一种可能会减少体臭的补充剂。然而，科学的评估尚未进行。作为第三个项目，我们分析了补充剂对G型耳垢患者腋臭的影响。我们发现服用补充剂的人和不服用补充剂的人之间存在显著差异。作为最后一个项目，我们感兴趣的是，如果小鼠是湿型ABCC11，分泌的物质是如何增加或新排出的。包括ABCC11在内的小鼠细胞也可能对耐药研究有用。我们构建了包含ABCC11人基因组DNA的转基因，但在小鼠ES细胞中从未观察到足够的表达。现在，我们正在生成用于分析ABCC11功能的模型系统。

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.