Article
RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.
RNA (New York, N.Y.) - 1 Sept 2017
Ohe Kenji, Yoshida Mayumi, Nakano-Kobayashi Akiko, Hosokawa Motoyasu, Sako Yukiya, Sakuma Maki, Okuno Yukiko, Usui Tomomi, Ninomiya Kensuke, Nojima Takayuki, Kataoka Naoyuki, Hagiwara Masatoshi
Abstract excerpt
The 5' splice site mutation (IVS20+6T>C) of the inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5' splice site. It is known to weaken U1 snRNP recognition and result in an aberrantly spliced mRNA product in neuronal tissue, but normally spliced mRNA in other tissues. Aberrantly...
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