A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

@article{Wakamatsu1992ANE,
  title={A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.},
  author={N Wakamatsu and Hiroshi Kobayashi and Tadashi Miyatake and Shuichi Tsuji},
  journal={The Journal of biological chemistry},
  year={1992},
  volume={267 4},
  pages={2406-13}
}
The molecular basis of a dramatically decreased steady state level of beta-hexosaminidase beta subunit mRNA in a patient with juvenile Sandhoff disease was investigated. Nucleotide sequence analysis of the HEXB gene coding for the beta subunit revealed two single base substitutions, one in exon 2 (A to G, a known polymorphism) and the other in exon 11 (C to T). Analysis of the beta subunit mRNA species demonstrated activation of a cryptic splice site in exon 11 as well as skipping of the exon… CONTINUE READING