Article
Structure-guided U2AF65 variant improves recognition and splicing of a defective pre-mRNA.
Proceedings of the National Academy of Sciences of the United States of America - 9 Dec 2014
Agrawal Anant A, McLaughlin Krystle J, Jenkins Jermaine L, Kielkopf Clara L
Abstract excerpt
Purine interruptions of polypyrimidine (Py) tract splice site signals contribute to human genetic diseases. The essential splicing factor U2AF(65) normally recognizes a Py tract consensus sequence preceding the major class of 3' splice sites. We found that neurofibromatosis- or retinitis pigmentosa-causing mutations in the 5' regions of Py tracts severely reduce U2AF(65) affinity. Conversely, we identified a...
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