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( Won Seok Yang ),( Xiang Zi Han ),( Kyoung Soon Lee ),( Kyung Min Lee ),( Ji Hyun Ju ),( In Cheol Shin ) 한국환경생물학회 2011 환경생물 : 환경생물학회지 Vol.29 No.1
In this study we present a mammalian cell culture model that allows to study the effect of endocrine disruptors (EDCs) on aromatase activity of aquatic amphibian, Bombina orientalis. Bombina orientalis aromatase gene was subcloned into a mammalian expression vector and subsequently transfected to mammalian cells. Although the protein expression level of Bombina orientalis aromatase was low, it had a significant aromatase activity. When EDCs were added to aromatase transfected cells, aromatase activity was significantly decreased. We report here that this system may be used to monitor the effect of EDCs on aromatase activity of aquatic organisms.
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
Xiu-Feng Huang,Lue Xiang,Wan Cheng,Fei-Fei Cheng,Kai-Wen He,Bo-Wen Zhang,Si-Si Zheng,Ru-Yi Han,Yi-Han Zheng,Xiao-Tao Xu,Huan-Yun Yu,Wenjuan Zhuang,Yuk Fai Leung,Zi-Bing Jin 생화학분자생물학회 2018 Experimental and molecular medicine Vol.50 No.-
Ocular coloboma is a developmental structural defect of the eye that often occurs as complex ocular anomalies. However, its genetic etiology remains largely unexplored. Here we report the identification of mutation (c.331C>T, p. R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping. IPO13 encodes an importin-B family protein and has been proven to be associated with the pathogenesis of coloboma and microphthalmia. We found that Ipo13 was expressed in the cornea, sclera, lens, and retina in mice. Additionally, the mRNA expression level of Ipo13 decreased significantly in the patient compared with its expression in a healthy individual. Morpholinooligonucleotide- induced knockdown of ipo13 in zebrafish caused dose-dependent microphthalmia and coloboma, which is highly similar to the ocular phenotypes in the patient. Moreover, both visual motor response and optokinetic response were impaired severely. Notably, these ocular phenotypes in ipo13-deficient zebrafish could be rescued remarkably by full-length ipo13 mRNA, suggesting that the phenotypes observed in zebrafish were due to insufficient ipo13 function. Altogether, our findings demonstrate, for the first time, a new role of IPO13 in eye morphogenesis and that loss of function of IPO13 could lead to ocular coloboma, microphthalmia, and cataract in humans and zebrafish.