Article
An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue.
Scientific reports - 15 Sept 2017
Tabeta Koichi, Du Xin, Arimatsu Kei, Yokoji Mai, Takahashi Naoki, Amizuka Norio, Hasegawa Tomoka, Crozat Karine, Maekawa Tomoki, Miyauchi Sayuri, Matsuda Yumi, Ida Takako, Kaku Masaru, Hoebe Kasper, Ohno Kinji, Yoshie Hiromasa, Yamazaki Kazuhisa, Moresco Eva Marie Y, Beutler Bruce
Abstract excerpt
GU-AG consensus sequences are used for intron recognition in the majority of cases of pre-mRNA splicing in eukaryotes. Mutations at splice junctions often cause exon skipping, short deletions, or insertions in the mature mRNA, underlying one common molecular mechanism of genetic diseases. Using N-ethyl-N-nitrosourea, a novel recessive mutation named seal was produced, associated with fragile bones and...
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