Article
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 May 2020
Yamada Takahiko, Takechi Masaki, Yokoyama Norisuke, Hiraoka Yuichi, Ishikubo Harumi, Usami Takako, Furutera Toshiko, Taga Yuki, Hirate Yoshikazu, Kanai-Azuma Masami, Yoda Tetsuya, Ogawa-Goto Kiyoko, Iseki Sachiko
Abstract excerpt
BACKGROUND: Splicing factor 3B subunit 4 (SF3B4) is a causative gene of an acrofacial dysostosis, Nager syndrome. Although in vitro analyses of SF3B4 have proposed multiple noncanonical functions unrelated to splicing, less information is available based on in vivo studies using model animals. RESULTS: We performed expression and functional analyses of Sf3b4 in mice. The mouse Sf3b4 transcripts were found from...
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