RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.

@article{Ohe2017RBM24PU,
  title={RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.},
  author={Kenji Ohe and Mayumi Yoshida and Akiko Nakano-Kobayashi and Motoyasu Hosokawa and Yukiya Sako and Maki Sakuma and Yukiko Okuno and Tomomi Usui and Kensuke Ninomiya and Takayuki Nojima and Naoyuki Kataoka and Masatoshi Hagiwara},
  journal={RNA},
  year={2017},
  volume={23 9},
  pages={
          1393-1403
        }
}
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 spliced IKBKAP mRNA abrogates IKK complex-associated protein (IKAP)/elongator protein 1… CONTINUE READING