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Hypoxia Volume 7, 2019 - Issue
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Original Research

An Erythrocytosis-Associated Mutation in the Zinc Finger of PHD2 Provides Insights into Its Binding of p23

Daisheng Song1 Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
,
Wei Guan1 Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA;2 Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, People’s Republic of China;3 Hubei Province Key Laboratory of Molecular Imaging, Wuhan 430022, People’s Republic of China
,
Lea M Coon4 Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
,
Aref Al-Kali5 Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA
,
Jennifer L Oliveira4 Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
&
Frank S Lee1 Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USACorrespondence[email protected]
Pages 81-86 | Published online: 13 Dec 2019

References

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  • Gardie B, Percy MJ, Hoogewijs D, et al. The role of PHD2 mutations in the pathogenesis of erythrocytosis. Hypoxia (Auckl). 2014;2:71–90. doi:10.2147/HP
  • Sinnema M, Song D, Guan W, et al. Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis. Blood. 2018;132(13):1455–1458. doi:10.1182/blood-2018-06-854711
  • Song D, Li LS, Heaton-Johnson KJ, Arsenault PR, Master SR, Lee FS. Prolyl Hydroxylase Domain Protein 2 (PHD2) binds a Pro-Xaa-Leu-Glu Motif, linking it to the heat shock protein 90 pathway. J Biol Chem. 2013;288(14):9662–9674.
  • Oliveira JL, Coon LM, Frederick LA, et al. Genotype-phenotype correlation of hereditary erythrocytosis mutations, a single center experience. Am J Hematol. 2018;93:1029–1041. doi:10.1002/ajh.v93.8
  • Arsenault PR, Song D, Chung YJ, Khurana TS, Lee FS. The zinc finger of Prolyl Hydroxylase Domain Protein 2 is essential for efficient hydroxylation of hypoxia-inducible factor alpha. Mol Cell Biol. 2016;36(18):2328–2343. doi:10.1128/MCB.00090-16
  • Yu F, White SB, Zhao Q, Lee FS. Dynamic, site-specific interaction of Hypoxia-inducible factor-1alpha with the von Hippel-Lindau tumor suppressor protein. Cancer Res. 2001;61(10):4136–4142.
  • Liu Y, Chen W, Gaudet J, et al. Structural basis for recognition of SMRT/N-CoR by the MYND domain and its contribution to AML1/ETO’s activity. Cancer Cell. 2007;11(6):483–497. doi:10.1016/j.ccr.2007.04.010
  • Harter MR, Liu CD, Shen CL, et al. BS69/ZMYND11 C-terminal domains bind and inhibit EBNA2. PLoS Pathog. 2016;12(2):e1005414. doi:10.1371/journal.ppat.1005414

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