Literature DB >> 23361906

Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Chunzhang Yang1, Michael G Sun, Joey Matro, Thanh T Huynh, Shervin Rahimpour, Josef T Prchal, Ronald Lechan, Russell Lonser, Karel Pacak, Zhengping Zhuang.   

Abstract

Hypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2 containing protein, leading to stabilization of HIF-2α and increased expression of hypoxia-related genes.

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Year:  2013        PMID： 23361906      PMCID： PMC3612863          DOI： 10.1182/blood-2012-10-460972

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  14 in total

1.  C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation.

Authors:  A C Epstein; J M Gleadle; L A McNeill; K S Hewitson; J O'Rourke; D R Mole; M Mukherji; E Metzen; M I Wilson; A Dhanda; Y M Tian; N Masson; D L Hamilton; P Jaakkola; R Barstead; J Hodgkin; P H Maxwell; C W Pugh; C J Schofield; P J Ratcliffe
Journal:  Cell       Date:  2001-10-05       Impact factor: 41.582

Review 2.  An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

Authors:  A-P Gimenez-Roqueplo; P L Dahia; M Robledo
Journal:  Horm Metab Res       Date:  2012-02-10       Impact factor: 2.936

3.  PHD2 mutation and congenital erythrocytosis with paraganglioma.

Authors:  Charline Ladroue; Romain Carcenac; Michel Leporrier; Sophie Gad; Claire Le Hello; Françoise Galateau-Salle; Jean Feunteun; Jacques Pouysségur; Stéphane Richard; Betty Gardie
Journal:  N Engl J Med       Date:  2008-12-18       Impact factor: 91.245

4.  HIF-2alpha regulates Oct-4: effects of hypoxia on stem cell function, embryonic development, and tumor growth.

Authors:  Kelly L Covello; James Kehler; Hongwei Yu; John D Gordan; Andrew M Arsham; Cheng-Jun Hu; Patricia A Labosky; M Celeste Simon; Brian Keith
Journal:  Genes Dev       Date:  2006-03-01       Impact factor: 11.361

5.  Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.

Authors:  Mircea Ivan; Thomas Haberberger; David C Gervasi; Kristen S Michelson; Volkmar Günzler; Keiichi Kondo; Haifeng Yang; Irina Sorokina; Ronald C Conaway; Joan W Conaway; William G Kaelin
Journal:  Proc Natl Acad Sci U S A       Date:  2002-09-26       Impact factor: 11.205

6.  Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein.

Authors:  Keiichi Kondo; Jeff Klco; Eijiro Nakamura; Mirna Lechpammer; William G Kaelin
Journal:  Cancer Cell       Date:  2002-04       Impact factor: 31.743

7.  Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension.

Authors:  G L Wang; B H Jiang; E A Rue; G L Semenza
Journal:  Proc Natl Acad Sci U S A       Date:  1995-06-06       Impact factor: 11.205

8.  A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

Authors:  Melanie J Percy; Paul W Furlow; Guy S Lucas; Xiping Li; Terence R J Lappin; Mary Frances McMullin; Frank S Lee
Journal:  N Engl J Med       Date:  2008-01-10       Impact factor: 91.245

9.  Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation.

Authors:  Cheng-Jun Hu; Li-Yi Wang; Lewis A Chodosh; Brian Keith; M Celeste Simon
Journal:  Mol Cell Biol       Date:  2003-12       Impact factor: 4.272

Review 10.  The impact of O2 availability on human cancer.

Authors:  Jessica A Bertout; Shetal A Patel; M Celeste Simon
Journal:  Nat Rev Cancer       Date:  2008-11-06       Impact factor: 60.716
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  43 in total

1.  Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma.

Authors:  Yujuan Wang; Mones S Abu-Asab; Defen Shen; Zhengping Zhuang; Emily Y Chew; Chi-Chao Chan
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-05-24       Impact factor: 3.117

Review 2.  Pheochromocytoma/Paraganglioma: Is This a Genetic Disorder?

Authors:  Lauren Fishbein
Journal:  Curr Cardiol Rep       Date:  2019-07-31       Impact factor: 2.931

3.  Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.

Authors:  David Taïeb; Anne Barlier; Chunzhang Yang; Morgane Pertuit; Aurélie Tchoghandjian; Claire Rochette; Hélène Zattara-Canoni; Dominique Figarella-Branger; Zhengping Zhuang; Karel Pacak; Philippe Metellus
Journal:  J Neurooncol       Date:  2015-10-29       Impact factor: 4.130

Review 4.  Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment.

Authors:  Victoria L Martucci; Karel Pacak
Journal:  Curr Probl Cancer       Date:  2014-01-15       Impact factor: 3.187

5.  Comparative genomic investigation of high-elevation adaptation in ectothermic snakes.

Authors:  Jia-Tang Li; Yue-Dong Gao; Liang Xie; Cao Deng; Peng Shi; Meng-Long Guan; Song Huang; Jin-Long Ren; Dong-Dong Wu; Li Ding; Zi-Yan Huang; Hu Nie; Devon P Humphreys; David M Hillis; Wen-Zhi Wang; Ya-Ping Zhang
Journal:  Proc Natl Acad Sci U S A       Date:  2018-07-31       Impact factor: 11.205

6.  Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.

Authors:  Ying Pang; Garima Gupta; Abhishek Jha; Xupeng Yue; Herui Wang; Thanh-Truc Huynh; Aiguo Li; Liping Li; Eva Baker; Emily Chew; Richard A Feelders; Esther Korpershoek; Zhengping Zhuang; Chunzhang Yang; Karel Pacak
Journal:  Cancer       Date:  2019-01-15       Impact factor: 6.860

7.  Blockade of Glutathione Metabolism in IDH1-Mutated Glioma.

Authors:  Xiaoying Tang; Xiao Fu; Yang Liu; Di Yu; Sabrina J Cai; Chunzhang Yang
Journal:  Mol Cancer Ther       Date:  2019-09-23       Impact factor: 6.261

8.  Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

Authors:  Lucie Lanikova; Felipe Lorenzo; Chunzhang Yang; Hari Vankayalapati; Richard Drachtman; Vladimir Divoky; Josef T Prchal
Journal:  Blood       Date:  2013-03-28       Impact factor: 22.113

9.  First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

Authors:  David Taïeb; Chunzhang Yang; Blandine Delenne; Zhengping Zhuang; Anne Barlier; Fréderic Sebag; Karel Pacak
Journal:  J Clin Endocrinol Metab       Date:  2013-03-28       Impact factor: 5.958

10.  Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.

Authors:  Silverio Perrotta; Daniel P Stiehl; Francesca Punzo; Saverio Scianguetta; Adriana Borriello; Debora Bencivenga; Maddalena Casale; Bruno Nobili; Silvia Fasoli; Adriana Balduzzi; Lilla Cro; Katarzyna J Nytko; Roland H Wenger; Fulvio Della Ragione
Journal:  Haematologica       Date:  2013-05-28       Impact factor: 9.941
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