Takabayashi Shuji, Iwashita Shuichi, Hirashima Tsukasa, Katoh Hideki
Institute for Experimental Animals, Hamamatsu Univeristy School of Medicine, Handayama, Hamamatsu, Shizuoka, Japan.
Exp Biol Med (Maywood). 2007 May;232(5):695-9.
We carried out molecular analyses of the novel flaky skin mutation, Ttc7(fsn-Jic )(a synonym for fsn(Jic)), which we found in a previous study. It was revealed that this mutation involved a genomic in-frame deletion including exons 9 and 10 of the Ttc7 gene, and that the genomic deletion in Ttc7 (fsn-Jic )may disrupt the tetratricopeptide repeat-2B domain of the TTC7 protein. Based on a comparison of three Ttc7 mutations, including Ttc7(fsn-J )(a synonym for fsn) and Ttc7(fsn-hea )(a synonym for hea), it was suggested that either exon 9 or exon 10 or both may play a more important role than the other exons of the Ttc7 gene. Ttc7 gene expression analyses using Northern blotting revealed that Ttc7 mRNA is expressed in 11 tissues, except muscle. In conclusion, we confirmed that the Ttc7 (fsn-Jic )mutation, as well as the Ttc7(fsn-J )and Ttc7 (fsn-hea )mutations, is responsible for abnormal phenotypes observed in various tissues of mice with the flaky skin mutation.
我们对之前研究中发现的新型片状皮肤突变Ttc7(fsn-Jic )（fsn(Jic)的同义词）进行了分子分析。结果显示，该突变涉及一个基因组框内缺失，包括Ttc7基因的第9和第10外显子，并且Ttc7 (fsn-Jic )中的基因组缺失可能会破坏TTC7蛋白的四肽重复序列-2B结构域。基于对三种Ttc7突变（包括Ttc7(fsn-J )（fsn的同义词）和Ttc7(fsn-hea )（hea的同义词））的比较，表明Ttc7基因的第9外显子或第10外显子或两者可能比其他外显子发挥更重要的作用。使用Northern印迹法进行的Ttc7基因表达分析显示，Ttc7 mRNA在除肌肉外的11种组织中表达。总之，我们证实Ttc7 (fsn-Jic )突变以及Ttc7(fsn-J )和Ttc7 (fsn-hea )突变是导致具有片状皮肤突变的小鼠各种组织中观察到的异常表型的原因。
