Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

@article{Saliba2015GermlineDO,
  title={Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies},
  author={Joseph E. Saliba and C{\'e}cile Saint-Martin and Antonio Di Stefano and Ga{\"e}lle Lenglet and Ch. Marty and Boris Keren and Florence Pasquier and V{\'e}ronique Della Valle and Lise Secardin and Gwendoline Leroy and Emna Mahfoudhi and Sarah Grosjean and Nathalie Droin and M'boyba Khadija Diop and Philippe Dessen and Sabine Charrier and Alberta Palazzo and Jane Merlevede and J. Meniane and Christine Delaunay-Darivon and Pascal Fuseau and Françoise Isnard and Nicole Casadevall and {\'E}ric Solary and Najet Debili and Olivier Adrien Bernard and Hana Raslova and A Hamdi Najman and William Vainchenker and Christine Bellann{\'e}-Chantelot and Isabelle Plo},
  journal={Nature Genetics},
  year={2015},
  volume={47},
  pages={1131-1140}
}
No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induced pluripotent stem cells and primary cells, we demonstrate that overexpression of ATG2B and GSKIP enhances hematopoietic progenitor differentiation, including of megakaryocytes… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 27 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 66 REFERENCES

Similar Papers

Loading similar papers…