Impact of isolated germline JAK2V617I mutation on human hematopoiesis-Reference-Cited by-同舟云学术

Impact of isolated germline JAK2V617I mutation on human hematopoiesis

Published:2013-05-16 Issue:20 Volume:121 Page:4156-4165
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Mead Adam J.¹,Chowdhury Onima¹,Pecquet Christian²,Dusa Alexandra²,Woll Petter¹,Atkinson Deborah¹,Burns Adam³,Score Joannah⁴,Rugless Michelle³,Clifford Ruth³,Moule Simon⁵,Bienz Nicola⁵,Vyas Paresh⁶,Cross Nick⁴,Gale Rosemary E.⁷,Henderson Shirley³,Constantinescu Stefan N.²,Schuh Anna³,Jacobsen Sten Eirik W.¹⁶

Affiliation:

1. Haematopoietic Stem Cell Biology Laboratory, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom;

2. Ludwig Institute for Cancer Research and Université Catholique de Louvain, de Duve Institute, Brussels, Belgium;

3. Oxford Biomedical Research Centre/National Health Service Haemato-Molecular Diagnostic Laboratory, John Radcliffe Hospital, Oxford, United Kingdom;

4. Human Genetics Division, School of Medicine, University of Southampton, Southampton, United Kingdom;

5. Department of Haematology, Heatherwood and Wexham Park National Health Service Foundation Trust, Wexham Park Hospital, Slough, United Kingdom;

6. Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom; and

7. University College London Cancer Institute, University College London, London, United Kingdom

Abstract

Key Points Germline JAK2V617I mutation as a sole genetic event does not suppress hematopoietic stem cells. JAK2V617I induces weaker constitutive activation than JAK2V617F but considerable cytokine hyperresponsiveness.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/20/4156/531266/4156.pdf

Reference51 articles.

1. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.;James;Nature,2005

2. Genetic and epigenetic complexity in myeloproliferative neoplasms.;Cross,2011

3. New mutations and pathogenesis of myeloproliferative neoplasms.;Vainchenker;Blood,2011

4. Mouse models of myeloproliferative neoplasms: JAK of all grades.;Li;Dis Model Mech,2011

5. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.;Jones;Blood,2005

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