Loss of the JAK2 intramolecular auto-inhibition mechanism is predicted by structural modelling of a novel exon 12 insertion mutation in a case of idiopathic erythrocytosis.

@article{Albiero2008LossOT,
  title={Loss of the JAK2 intramolecular auto-inhibition mechanism is predicted by structural modelling of a novel exon 12 insertion mutation in a case of idiopathic erythrocytosis.},
  author={Elena Albiero and Domenico Madeo and Marco Ruggeri and Martina Bernardi and Alejandro Giorgetti and Francesco Rodeghiero},
  journal={British journal of haematology},
  year={2008},
  volume={142 6},
  pages={986-90}
}
We report a novel gain-of-function JAK2 exon 12 insertion mutation in a patient with idiopathic erythrocytosis and low serum erythropoietin level. To date, only rare cases of such mutations have been reported in the JAK2 exon 12. Using computer-based structural modelling we propose that this mutation causes the loss of the JAK2 auto-inhibition step, leading to the constitutive activation of JAK2 tyrosine kinase-dependent activity. Our model-based hypothesis provides a useful approach for the… CONTINUE READING

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