Nomi M, Oishi I, Kani S, Suzuki H, Matsuda T, Yoda A, Kitamura M, Itoh K, Takeuchi S, Takeda K, Akira S, Ikeya M, Takada S, Minami Y
Department of Genome Sciences, Graduate School of Medicine, Kobe University, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
Mol Cell Biol. 2001 Dec;21(24):8329-35. doi: 10.1128/MCB.21.24.8329-8335.2001.
The mammalian Ror family of receptor tyrosine kinases consists of two structurally related proteins, Ror1 and Ror2. We have shown that mRor2-deficient mice exhibit widespread skeletal abnormalities, ventricular septal defects in the heart, and respiratory dysfunction, leading to neonatal lethality (S. Takeuchi, K. Takeda, I. Oishi, M. Nomi, M. Ikeya, K. Itoh, S. Tamura, T. Ueda, T. Hatta, H. Otani, T. Terashima, S. Takada, H. Yamamura, S. Akira, and Y. Minami, Genes Cells 5:71-78, 2000). Here we show that mRor1-deficient mice have no apparent skeletal or cardiac abnormalities, yet they also die soon after birth due to respiratory dysfunction. Interestingly, mRor1/mRor2 double mutant mice show markedly enhanced skeletal abnormalities compared with mRor2 mutant mice. Furthermore, double mutant mice also exhibit defects not observed in mRor2 mutant mice, including a sternal defect, dysplasia of the symphysis of the pubic bone, and complete transposition of the great arteries. These results indicate that mRor1 and mRor2 interact genetically in skeletal and cardiac development.
哺乳动物受体酪氨酸激酶Ror家族由两种结构相关的蛋白Ror1和Ror2组成。我们已经表明,mRor2基因缺陷型小鼠表现出广泛的骨骼异常、心脏室间隔缺损和呼吸功能障碍,导致新生期死亡(S. Takeuchi、K. Takeda、I. Oishi、M. Nomi、M. Ikeya、K. Itoh、S. Tamura、T. Ueda、T. Hatta、H. Otani、T. Terashima、S. Takada、H. Yamamura、S. Akira和Y. Minami,《基因与细胞》5:71 - 78,2000)。在此我们表明,mRor1基因缺陷型小鼠没有明显的骨骼或心脏异常,但它们也因呼吸功能障碍在出生后不久死亡。有趣的是,与mRor2突变型小鼠相比,mRor1/mRor2双突变型小鼠表现出明显增强的骨骼异常。此外,双突变型小鼠还表现出mRor2突变型小鼠未观察到的缺陷,包括胸骨缺陷、耻骨联合发育异常和大动脉完全转位。这些结果表明,mRor1和mRor2在骨骼和心脏发育中存在基因相互作用。