title: The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype.
abstract: 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.
authors.affiliation: Institute for Experimental Animals, Hamamatsu Univeristy School of Medicine, Handayama, Hamamatsu, Shizuoka, Japan.
authors.forename: Shuji
authors.initials: S
authors.lastname: Takabayashi
authors.forename: Shuichi
authors.initials: S
authors.lastname: Iwashita
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Hirashima
authors.forename: Hideki
authors.initials: H
authors.lastname: Katoh
mesh_terms: D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D004252:DNA Mutational Analysis; D005091:Exons; D020869:Gene Expression Profiling; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology
chemical_list: D011506:Proteins; D012333:RNA, Messenger; C505359:TTC7 protein, mouse