Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

@article{Lehrman1987AluAluRD,
  title={Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.},
  author={Mark A. Lehrman and D. W. Russell and Joseph L Goldstein and Michael Scott Brown},
  journal={The Journal of biological chemistry},
  year={1987},
  volume={262 7},
  pages={3354-61}
}
A Japanese subject with homozygous familial hypercholesterolemia was found to have a 7.8-kilobase deletion in the gene for the low density lipoprotein receptor. The deletion joins intron 15 to the middle of exon 18, which encodes the 3' untranslated region, thereby removing all 3' splice acceptor sites distal to intron 15. By S1 nuclease mapping, we demonstrated that the 5' splice donor site of intron 15 is no longer used. Instead a continuous transcript is produced in which exon 15 is followed… CONTINUE READING
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