H2AFY

Summary

Gene Symbol: H2AFY
Description: H2A histone family member Y
Alias: H2A.y, H2A/y, H2AF12M, MACROH2A1.1, mH2A1, macroH2A1.2, core histone macro-H2A.1, histone H2A.y, histone macroH2A1, histone macroH2A1.1, histone macroH2A1.2, medulloblastoma antigen MU-MB-50.205
Species: human
Products:     H2AFY

Top Publications

  1. Novikov L, Park J, Chen H, Klerman H, Jalloh A, Gamble M. QKI-mediated alternative splicing of the histone variant MacroH2A1 regulates cancer cell proliferation. Mol Cell Biol. 2011;31:4244-55 pubmed publisher
    ..1. Finally, we demonstrate that QKI expression is significantly reduced in many of the same cancer types that demonstrate a reduction in macroH2A1.1 splicing. ..
  2. Kapoor A, Goldberg M, Cumberland L, Ratnakumar K, Segura M, Emanuel P, et al. The histone variant macroH2A suppresses melanoma progression through regulation of CDK8. Nature. 2010;468:1105-9 pubmed publisher
    ..Taken together, our results demonstrate that mH2A is a critical component of chromatin that suppresses the development of malignant melanoma, a highly intractable cutaneous neoplasm. ..
  3. Zhang R, Poustovoitov M, Ye X, Santos H, Chen W, Daganzo S, et al. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. Dev Cell. 2005;8:19-30 pubmed
    ..These data indicate that HIRA and ASF1a drive formation of macroH2A-containing SAHF and senescence-associated cell cycle exit, via a pathway that appears to depend on flux of heterochromatic proteins through PML bodies. ..
  4. Hernández Muñoz I, Lund A, van der Stoop P, Boutsma E, Muijrers I, Verhoeven E, et al. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. Proc Natl Acad Sci U S A. 2005;102:7635-40 pubmed
    ..We further demonstrate that MACROH2A1 deposition is regulated by the CULLIN3/SPOP ligase complex and is actively involved in stable X inactivation, likely through the formation of an additional layer of epigenetic silencing. ..
  5. Kustatscher G, Hothorn M, Pugieux C, Scheffzek K, Ladurner A. Splicing regulates NAD metabolite binding to histone macroH2A. Nat Struct Mol Biol. 2005;12:624-5 pubmed publisher
    ..6-A crystal structure and mutants reveal how the metabolite is recognized. Mutually exclusive exon use in the gene H2AFY produces macroH2A1.2, whose tissue distribution differs. MacroH2A1...
  6. Bernstein E, Muratore Schroeder T, Diaz R, Chow J, Changolkar L, Shabanowitz J, et al. A phosphorylated subpopulation of the histone variant macroH2A1 is excluded from the inactive X chromosome and enriched during mitosis. Proc Natl Acad Sci U S A. 2008;105:1533-8 pubmed publisher
    ..S137 phosphorylation was found to be present in both male and female cells and on both splice variants of the mH2A1 gene...
  7. Ouararhni K, Hadj Slimane R, Ait Si Ali S, Robin P, Mietton F, Harel Bellan A, et al. The histone variant mH2A1.1 interferes with transcription by down-regulating PARP-1 enzymatic activity. Genes Dev. 2006;20:3324-36 pubmed
    ..By using chromatin immunoprecipitation and tandem affinity immunopurification of the mH2A1.1 nucleosome complex, we identified numerous genes with promoters containing mH2A1.1 nucleosomes...
  8. Doyen C, An W, Angelov D, Bondarenko V, Mietton F, Studitsky V, et al. Mechanism of polymerase II transcription repression by the histone variant macroH2A. Mol Cell Biol. 2006;26:1156-64 pubmed
  9. Costanzi C, Pehrson J. Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals. Nature. 1998;393:599-601 pubmed
    ..Here we show that an mH2A1 subtype is preferentially concentrated in the inactive X chromosome of female mammals...

More Information

Publications84

  1. Chadwick B, Willard H. Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. Hum Mol Genet. 2001;10:1101-13 pubmed
    ..This study provides further information about the nucleosomal composition of chromatin on the inactive X chromosome and indicates that a number of H2A variants are non-randomly distributed on the active and inactive X chromosomes. ..
  2. Dardenne E, Pierredon S, Driouch K, Gratadou L, Lacroix Triki M, Espinoza M, et al. Splicing switch of an epigenetic regulator by RNA helicases promotes tumor-cell invasiveness. Nat Struct Mol Biol. 2012;19:1139-46 pubmed publisher
    ..These findings reveal a new regulatory pathway in which splicing factors control the expression of histone variant isoforms that in turn drive a transcription program to switch tumor cells to an invasive phenotype. ..
  3. Gamble M, Frizzell K, Yang C, Krishnakumar R, Kraus W. The histone variant macroH2A1 marks repressed autosomal chromatin, but protects a subset of its target genes from silencing. Genes Dev. 2010;24:21-32 pubmed publisher
    ..Collectively, our results document an unexpected role for macroH2A1 in the escape from heterochromatin-associated silencing and the enhancement of autosomal gene transcription. ..
  4. Buschbeck M, Uribesalgo I, Wibowo I, Rué P, Martin D, Gutierrez A, et al. The histone variant macroH2A is an epigenetic regulator of key developmental genes. Nat Struct Mol Biol. 2009;16:1074-9 pubmed publisher
    ..Taken together, our data demonstrate that macroH2A variants constitute an important epigenetic mark involved in the concerted regulation of gene expression programs during cellular differentiation and vertebrate development. ..
  5. Sporn J, Kustatscher G, Hothorn T, Collado M, Serrano M, Muley T, et al. Histone macroH2A isoforms predict the risk of lung cancer recurrence. Oncogene. 2009;28:3423-8 pubmed publisher
    ..Here, we show that expression of histone macroH2A1.1 and macroH2A2 predicts lung cancer recurrence, identifying these histone variants as a novel tool for an ..
  6. Mietton F, Sengupta A, Molla A, Picchi G, Barral S, Heliot L, et al. Weak but uniform enrichment of the histone variant macroH2A1 along the inactive X chromosome. Mol Cell Biol. 2009;29:150-6 pubmed publisher
    We studied the enrichment and distribution of the histone variant mH2A1 in the condensed inactive X (Xi) chromosome...
  7. Kozlowski M, Corujo D, Hothorn M, Guberovic I, Mandemaker I, Blessing C, et al. MacroH2A histone variants limit chromatin plasticity through two distinct mechanisms. EMBO Rep. 2018;19: pubmed publisher
    ..In the absence of DNA damage, the macroH2A linker is also sufficient for rescuing heterochromatin architecture in cells deficient for macroH2A. ..
  8. Kim J, Shin Y, Lee S, Kim M, Punj V, Lu J, et al. Regulation of Breast Cancer-Induced Osteoclastogenesis by MacroH2A1.2 Involving EZH2-Mediated H3K27me3. Cell Rep. 2018;24:224-237 pubmed publisher
    ..Collectively, this study unravels a role for macroH2A1.2 in regulating osteoclastogenic potential of breast cancer cells, suggesting possibilities for developing therapeutic tools to treat osteolytic bone destruction. ..
  9. Dell Orso S, Wang A, Shih H, Saso K, Berghella L, Gutierrez Cruz G, et al. The Histone Variant MacroH2A1.2 Is Necessary for the Activation of Muscle Enhancers and Recruitment of the Transcription Factor Pbx1. Cell Rep. 2016;14:1156-1168 pubmed publisher
    ..The histone variant macroH2A1 (mH2A1) is almost three times the size of its canonical H2A counterpart, due to the presence of an ∼25 kDa ..
  10. Rouleau S, Beaudoin J, Bisaillon M, Perreault J. Small antisense oligonucleotides against G-quadruplexes: specific mRNA translational switches. Nucleic Acids Res. 2015;43:595-606 pubmed publisher
    ..promote and inhibit RNA G4 folding affects the translation of specific mRNAs, including one from the 5'UTR of the H2AFY gene, a histone variant associated with cellular differentiation and cancer...
  11. Kim J, Shin Y, Lee S, Kim M, Punj V, Shin H, et al. MacroH2A1.2 inhibits prostate cancer-induced osteoclastogenesis through cooperation with HP1α and H1.2. Oncogene. 2018;: pubmed publisher
    ..Here, we report that mH2A1.2, one of the mH2A isoforms, attenuates prostate cancer-induced osteoclastogenesis by maintaining the inactive ..
  12. Han Q, Lu J, Wang J, Ye J, Jiang X, Chen H, et al. H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia. Cancer Genet. 2018;222-223:9-12 pubmed publisher
    ..We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the ..
  13. Borghesan M, Fusilli C, Rappa F, Panebianco C, Rizzo G, Oben J, et al. DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progression. Cancer Res. 2016;76:594-606 pubmed publisher
  14. Ilagan J, Ramakrishnan A, Hayes B, Murphy M, Zebari A, Bradley P, et al. U2AF1 mutations alter splice site recognition in hematological malignancies. Genome Res. 2015;25:14-26 pubmed publisher
    ..of hundreds of genes, affecting biological pathways such as DNA methylation (DNMT3B), X chromosome inactivation (H2AFY), the DNA damage response (ATR, FANCA), and apoptosis (CASP8)...
  15. Moura D, Fernández I, Marín Royo G, López Sánchez I, Martín Doncel E, Vega F, et al. Oncogenic Sox2 regulates and cooperates with VRK1 in cell cycle progression and differentiation. Sci Rep. 2016;6:28532 pubmed publisher
    ..Sox2 and VRK1 that inversely correlated with the expression of differentiation markers such as N-cadherin, Pax6, mH2A1.2 and mH2A2. Differentiation-associated macro histones mH2A1...
  16. Yang J, Zhao Y, Kalita M, Li X, Jamaluddin M, Tian B, et al. Systematic Determination of Human Cyclin Dependent Kinase (CDK)-9 Interactome Identifies Novel Functions in RNA Splicing Mediated by the DEAD Box (DDX)-5/17 RNA Helicases. Mol Cell Proteomics. 2015;14:2701-21 pubmed publisher
    ..with DDX 5/17, a family of ATP-dependent RNA helicases, important in alternative RNA splicing of NFAT5, and mH2A1 mRNA two proteins controlling redox signaling...
  17. Hodge D, Cui J, Gamble M, Guo W. Histone Variant MacroH2A1 Plays an Isoform-Specific Role in Suppressing Epithelial-Mesenchymal Transition. Sci Rep. 2018;8:841 pubmed publisher
    ..2, which lacks the PAR binding domain. Thus, our work discovered a previously unrecognized isoform-specific function of macroH2A1 in regulating EMT induction. ..
  18. Pazienza V, Panebianco C, Rappa F, Memoli D, Borghesan M, Cannito S, et al. Histone macroH2A1.2 promotes metabolic health and leanness by inhibiting adipogenesis. Epigenetics Chromatin. 2016;9:45 pubmed
    ..Strategies aiming at enhancing macroH2A1.2 expression might counteract excessive adiposity in humans. ..
  19. Pliatska M, Kapasa M, Kokkalis A, Polyzos A, Thanos D. The Histone Variant MacroH2A Blocks Cellular Reprogramming by Inhibiting Mesenchymal-to-Epithelial Transition. Mol Cell Biol. 2018;38: pubmed publisher
    ..The histone variant macroH2A1 (mH2A1) is a barrier to the cellular reprogramming process...
  20. de Barrios O, Győrffy B, Fernández Aceñero M, Sánchez Tilló E, Sánchez Moral L, Siles L, et al. ZEB1-induced tumourigenesis requires senescence inhibition via activation of DKK1/mutant p53/Mdm2/CtBP and repression of macroH2A1. Gut. 2017;66:666-682 pubmed publisher
    ..that involves the subsequent activation of DKK1, mutant p53, Mdm2 and CtBP to ultimately repress macroH2A1 (H2AFY)...
  21. Gonzalez Pena D, Nixon S, Southey B, Lawson M, McCusker R, Hernandez A, et al. Differential Transcriptome Networks between IDO1-Knockout and Wild-Type Mice in Brain Microglia and Macrophages. PLoS ONE. 2016;11:e0157727 pubmed publisher
    ..between cell types based on differential transcript isoform abundance was detected in 210 genes including Phf11d, H2afy, and Abr...
  22. Beaver L, Kuintzle R, Buchanan A, Wiley M, Glasser S, Wong C, et al. Long noncoding RNAs and sulforaphane: a target for chemoprevention and suppression of prostate cancer. J Nutr Biochem. 2017;42:72-83 pubmed publisher
    ..and significantly up-regulated several genes including GAPDH (regulates glycolysis), MAP1LC3B2 (autophagy) and H2AFY (chromatin structure)...
  23. Yoshitake R, Saeki K, Watanabe M, Nakaoka N, Ong S, Hanafusa M, et al. Molecular investigation of the direct anti-tumour effects of nonsteroidal anti-inflammatory drugs in a panel of canine cancer cell lines. Vet J. 2017;221:38-47 pubmed publisher
    ..Further validation and elucidation of their associated mechanisms will contribute to patient selection in clinical settings and the development of effective combination therapies. ..
  24. Li F, Yi P, Pi J, Li L, Hui J, Wang F, et al. QKI5-mediated alternative splicing of the histone variant macroH2A1 regulates gastric carcinogenesis. Oncotarget. 2016;7:32821-34 pubmed publisher
    ..1 isoform. Furthermore, QKI5 could inhibit cyclin L1 expression via promoting macroH2A1.1 production. Thus, this study identified a novel regulatory axis involved in gastric tumorigenesis and provided a new strategy for GC therapy. ..
  25. Yu S, Wang X, Geng P, Tang X, Xiang L, Lu X, et al. Melatonin regulates PARP1 to control the senescence-associated secretory phenotype (SASP) in human fetal lung fibroblast cells. J Pineal Res. 2017;63: pubmed publisher
  26. Haque N, Ouda R, Chen C, Ozato K, Hogg J. ZFR coordinates crosstalk between RNA decay and transcription in innate immunity. Nat Commun. 2018;9:1145 pubmed publisher
    ..interferon signaling by preventing aberrant splicing and nonsense-mediated decay of histone variant macroH2A1/H2AFY mRNAs...
  27. Yip B, Steeples V, Repapi E, Armstrong R, Llorian M, Roy S, et al. The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes. J Clin Invest. 2017;127:2206-2221 pubmed publisher
    ..In hematopoietic progenitors, the introduction of isoform changes identified in the U2AF1S34F target genes H2AFY, encoding an H2A histone variant, and STRAP, encoding serine/threonine kinase receptor-associated protein, ..
  28. Wild R, Hothorn M. The macro domain as fusion tag for carrier-driven crystallization. Protein Sci. 2017;26:365-374 pubmed publisher
    ..transporter chaperone 4 (Vtc4) when fused to a C-terminal, non-cleavable macro tag derived from human histone macroH2A1.1. Initial crystals diffracted to 3.3 Å resolution...
  29. Troyer J, Nelson G, Lautenberger J, Chinn L, McIntosh C, Johnson R, et al. Genome-wide association study implicates PARD3B-based AIDS restriction. J Infect Dis. 2011;203:1491-502 pubmed publisher
    ..43, P = .025). These observations suggest a potential unsuspected pathway of host genetic influence on the dynamics of AIDS progression. ..
  30. Ramamoorthy M, Smith S. Loss of ATRX Suppresses Resolution of Telomere Cohesion to Control Recombination in ALT Cancer Cells. Cancer Cell. 2015;28:357-69 pubmed publisher
    ..1-tankyrase axis as a potential therapeutic target in ALT tumors. ..
  31. Hu Y, Chopra V, Chopra R, Locascio J, Liao Z, Ding H, et al. Transcriptional modulator H2A histone family, member Y (H2AFY) marks Huntington disease activity in man and mouse. Proc Natl Acad Sci U S A. 2011;108:17141-6 pubmed publisher
    ..We found that the dynamic regulator of chromatin plasticity H2A histone family, member Y (H2AFY) is specifically overexpressed in the blood and frontal cortex of patients with HD compared with controls...
  32. Nusinow D, Sharp J, Morris A, Salas S, Plath K, Panning B. The histone domain of macroH2A1 contains several dispersed elements that are each sufficient to direct enrichment on the inactive X chromosome. J Mol Biol. 2007;371:11-8 pubmed
    ..These sequences map to the surface of the macroH2A1/H2B dimer, but are buried in the crystal structure of the macroH2A1 containing nucleosome, suggesting that they may contribute to recognition by macroH2A1/H2B deposition factors. ..
  33. Sarma K, Cifuentes Rojas C, Ergun A, Del Rosario A, Jeon Y, White F, et al. ATRX directs binding of PRC2 to Xist RNA and Polycomb targets. Cell. 2014;159:869-83 pubmed publisher
    ..Thus, ATRX is a required specificity determinant for PRC2 targeting and function. ..
  34. Barrero M, Sesé B, Marti M, Izpisua Belmonte J. Macro histone variants are critical for the differentiation of human pluripotent cells. J Biol Chem. 2013;288:16110-6 pubmed publisher
    ..ChIP experiments showed that during differentiation macro histone variants are recruited to the regulatory regions of pluripotency and developmental genes marked with H3K27me3 contributing to the silencing of these genes. ..
  35. Sadakierska Chudy A, Kostrzewa R, Filip M. A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. Neurotox Res. 2015;27:84-97 pubmed publisher
  36. Chen H, Ruiz P, Novikov L, Casill A, Park J, Gamble M. MacroH2A1.1 and PARP-1 cooperate to regulate transcription by promoting CBP-mediated H2B acetylation. Nat Struct Mol Biol. 2014;21:981-9 pubmed publisher
    ..Although macroH2A1-regulated H2B acetylation is a common feature of primary cells, this regulation is typically lost in cancer cells. Consequently, our results provide insight into macroH2A1.1's role in cancer suppression. ..
  37. Wheaton K, Sarkari F, Stanly Johns B, Davarinejad H, Egorova O, Kaustov L, et al. UbE2E1/UBCH6 Is a Critical in Vivo E2 for the PRC1-catalyzed Ubiquitination of H2A at Lys-119. J Biol Chem. 2017;292:2893-2902 pubmed publisher
    ..This study reveals that UbE2E1 is an in vivo E2 for the PRC1 ligase complex and thus plays an important role in the regulation of H2A Lys-119 monoubiquitination. ..
  38. Hussey K, Chen H, Yang C, Park E, Hah N, Erdjument Bromage H, et al. The histone variant MacroH2A1 regulates target gene expression in part by recruiting the transcriptional coregulator PELP1. Mol Cell Biol. 2014;34:2437-49 pubmed publisher
    ..MacroH2A1 specifically recruits PELP1 to the promoters of macroH2A1 target genes, but macroH2A1 occupancy occurs independent of PELP1. This recruitment allows macroH2A1 and PELP1 to cooperatively regulate gene expression outcomes. ..
  39. Karras G, Kustatscher G, Buhecha H, Allen M, Pugieux C, Sait F, et al. The macro domain is an ADP-ribose binding module. EMBO J. 2005;24:1911-20 pubmed publisher
    ..In addition, some macro domain proteins also recognize poly-ADP-ribose as a ligand. Our data suggest an important role for proteins containing macro domains in the biology of ADP-ribose...
  40. Kim W, Chakraborty G, Kim S, Shin J, Park C, Jeong M, et al. Macro histone H2A1.2 (macroH2A1) protein suppresses mitotic kinase VRK1 during interphase. J Biol Chem. 2012;287:5278-89 pubmed publisher
    ..2 by NMR spectroscopy. Hence, our findings might provide valuable insight into the underlying molecular mechanism regarding an epigenetic regulation of histone H3 during the cell cycle. ..
  41. Kim J, Sturgill D, Sebastian R, Khurana S, Tran A, Edwards G, et al. Replication Stress Shapes a Protective Chromatin Environment across Fragile Genomic Regions. Mol Cell. 2018;69:36-47.e7 pubmed publisher
    ..Altogether, our findings demonstrate that recurrent DNA damage contributes to the chromatin landscape to ensure the epigenomic integrity of dividing cells. ..
  42. Lo Re O, Vinciguerra M. Histone MacroH2A1: A Chromatin Point of Intersection between Fasting, Senescence and Cellular Regeneration. Genes (Basel). 2017;8: pubmed publisher
    ..We will further discuss context-dependent and isoform-specific functions. The aim of this review is to provide guidance to assess histone variant macroH2A1 potential as a therapeutic intervention point. ..
  43. Wan D, Liu C, Sun Y, Wang W, Huang K, Zheng L. MacroH2A1.1 cooperates with EZH2 to promote adipogenesis by regulating Wnt signaling. J Mol Cell Biol. 2017;9:325-337 pubmed publisher
    ..Here we found that macroH2A1.1 (mH2A1.1), a variant of histone H2A, was upregulated during adipocyte differentiation in 3T3-L1 cells and in the white ..
  44. Agelopoulos M, Thanos D. Epigenetic determination of a cell-specific gene expression program by ATF-2 and the histone variant macroH2A. EMBO J. 2006;25:4843-53 pubmed
    ..siRNA against ATF-2 or macroH2A rescues IL-8 transcription in B cells. Thus, a transcription factor can work as a transcriptional repressor by orchestrating and maintaining the assembly of specialized local chromatin architectures. ..
  45. Syed K, Joseph S, Mukherjee A, Majumder A, TEIXEIRA J, Dutta D, et al. Histone chaperone APLF regulates induction of pluripotency in murine fibroblasts. J Cell Sci. 2016;129:4576-4591 pubmed
    ..Downregulation of APLF in MEFs expedites the loss of the repressive MacroH2A.1 (encoded by H2afy) histone variant from the Cdh1 promoter and enhances the incorporation of active histone H3me2K4 marks at the ..
  46. Gamble M, Kraus W. Multiple facets of the unique histone variant macroH2A: from genomics to cell biology. Cell Cycle. 2010;9:2568-74 pubmed
    ..Additionally, macroH2A has been linked to the control of the cell cycle and cell proliferation. We also describe areas where further research is required to extend our knowledge about this enigmatic histone variant. ..
  47. Li X, Kuang J, Shen Y, Majer M, Nelson C, Parsawar K, et al. The atypical histone macroH2A1.2 interacts with HER-2 protein in cancer cells. J Biol Chem. 2012;287:23171-83 pubmed publisher
    ..Macrohistone 2A1 (H2AFY; mH2A1) was found to interact with HER-2 in cancer cells that overexpress HER-2. Of the two human mH2A1 isoforms, mH2A1...
  48. Biterge B, Schneider R. Histone variants: key players of chromatin. Cell Tissue Res. 2014;356:457-66 pubmed publisher
    ..In this review, we focus on recent progress in the study of core histone variants H2A.X, H2A.Z, macroH2A, H3.3, and CENP-A, as well as linker histone H1 variants, their functions and their links to development and disease. ..
  49. Chadwick B, Willard H. Cell cycle-dependent localization of macroH2A in chromatin of the inactive X chromosome. J Cell Biol. 2002;157:1113-23 pubmed
    ..Therefore, targeting of macroH2A1 to the centrosome is likely part of a degradation pathway, a mechanism common to a variety of other chromatin proteins. ..
  50. Takahashi I, Kameoka Y, Hashimoto K. MacroH2A1.2 binds the nuclear protein Spop. Biochim Biophys Acta. 2002;1591:63-8 pubmed
    ..Further binding domain mapping in a glutathione-S-transferase (GST) pull-down experiment revealed that macroH2A1.2 binds the MATH domain of Spop, which in turn binds to the putative leucine zipper domain of macroH2A1.2. ..
  51. Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, et al. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. BMC Med Genet. 2007;8:74 pubmed
    ..axis, 2) neurogenin 1, a transcription factor involved in neurogenesis, and 3) histone family member Y (H2AFY), which is involved in X-chromosome inactivation in females and could explain the 4:1 male:female gender ..
  52. Ratnakumar K, Duarte L, LeRoy G, Hasson D, Smeets D, Vardabasso C, et al. ATRX-mediated chromatin association of histone variant macroH2A1 regulates ?-globin expression. Genes Dev. 2012;26:433-8 pubmed publisher
    ..Collectively, our results implicate deregulation of macroH2A's distribution as a contributing factor to the ?-thalassemia phenotype of ATRX syndrome. ..
  53. Pajewski N, Shrestha S, Quinn C, Parker S, Wiener H, Aissani B, et al. A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. Vaccine. 2012;30:4778-84 pubmed publisher
    ..032). Future studies will be required to replicate these findings in European Americans and to further elucidate the host genetic factors underlying variable immune response to AVA. ..
  54. Xu D, Li C, Zhang X, Gong Z, Chan C, Lee S, et al. Skp2-macroH2A1-CDK8 axis orchestrates G2/M transition and tumorigenesis. Nat Commun. 2015;6:6641 pubmed publisher
    ..Here we identify the Skp2-macroH2A1 (mH2A1)-cyclin-dependent kinase 8 (CDK8) axis as a critical pathway for these processes, and deregulation of this pathway ..
  55. Podrini C, Koffas A, Chokshi S, Vinciguerra M, Lelliott C, White J, et al. MacroH2A1 isoforms are associated with epigenetic markers for activation of lipogenic genes in fat-induced steatosis. FASEB J. 2015;29:1676-87 pubmed publisher
    ..This study underlines the importance of the replacement of noncanonical histones in the regulation of genes involved in lipid metabolism in the progression of steatosis. ..
  56. Gibbs Seymour I, Fontana P, Rack J, Ahel I. HPF1/C4orf27 Is a PARP-1-Interacting Protein that Regulates PARP-1 ADP-Ribosylation Activity. Mol Cell. 2016;62:432-442 pubmed publisher
    ..Collectively, our results demonstrate how a fundamental step in PARP-1-dependent ADP-ribosylation signaling is regulated and suggest that HPF1 functions at the crossroads of histone ADP-ribosylation and PARP-1 automodification. ..
  57. Xu C, Xu Y, Gursoy Yuzugullu O, Price B. The histone variant macroH2A1.1 is recruited to DSBs through a mechanism involving PARP1. FEBS Lett. 2012;586:3920-5 pubmed publisher
    ..These results reveal an unusual mechanism involving a direct association of macroH2A1.1 with PARylated chromatin which is critical for retaining 53BP1 at sites of damage. ..
  58. Nusinow D, Hernández Muñoz I, Fazzio T, Shah G, Kraus W, Panning B. Poly(ADP-ribose) polymerase 1 is inhibited by a histone H2A variant, MacroH2A, and contributes to silencing of the inactive X chromosome. J Biol Chem. 2007;282:12851-9 pubmed
    ..These results suggest that one function of macroH2A in gene silencing is to inhibit PARP-1 enzymatic activity, and this may affect PARP-1 association with chromatin. ..
  59. Chu F, Nusinow D, Chalkley R, Plath K, Panning B, Burlingame A. Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry. Mol Cell Proteomics. 2006;5:194-203 pubmed
    ..2, suggesting that, like canonical H2A, this variant H2A is subject to regulation by combinatorial use of covalent modifications. ..
  60. Lee Y, Hong M, Kim J, Hong Y, Choe Y, Chang S, et al. Isolation of cDNA clones encoding human histone macroH2A1 subtypes. Biochim Biophys Acta. 1998;1399:73-7 pubmed
    cDNA clones encoding two different subtypes of histone macroH2A1, macroH2A1.1 and macroH2A1.2, have been isolated from human liver tissue...
  61. Cong R, Das S, Douet J, Wong J, Buschbeck M, Mongelard F, et al. macroH2A1 histone variant represses rDNA transcription. Nucleic Acids Res. 2014;42:181-92 pubmed publisher
    ..These results demonstrate that macroH2A1 is a new factor involved in the regulation of rDNA transcription. ..
  62. Ganesan S, Silver D, Greenberg R, Avni D, Drapkin R, Miron A, et al. BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell. 2002;111:393-405 pubmed
    ..These observations suggest that loss of BRCA1 in female cells may lead to Xi perturbation and destabilization of its silenced state. ..
  63. Angelov D, Molla A, Perche P, Hans F, Cote J, Khochbin S, et al. The histone variant macroH2A interferes with transcription factor binding and SWI/SNF nucleosome remodeling. Mol Cell. 2003;11:1033-41 pubmed
    ..This property of mH2A was demonstrated to reside only in its H2A-like domain. A hypothesis explaining the role of histone variants in transcriptional regulation is proposed. ..
  64. Rappa F, Greco A, Podrini C, Cappello F, Foti M, Bourgoin L, et al. Immunopositivity for histone macroH2A1 isoforms marks steatosis-associated hepatocellular carcinoma. PLoS ONE. 2013;8:e54458 pubmed publisher
    ..1 and macroH2A1.2. These data obtained in mice and humans suggest that both macroH2A1 isoforms may play a role in HCC pathogenesis and moreover may be considered as novel diagnostic markers for human HCC. ..
  65. Ogawa Y, Ono T, Wakata Y, Okawa K, Tagami H, Shibahara K. Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. Biochem Biophys Res Commun. 2005;336:204-9 pubmed
    b>Histone macroH2A1.2 (macroH2A) is an unusual histone H2A variant with a large non-histone macrodomain at its carboxyl terminal. MacroH2A1...
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    ..Thus, the unusual domain structure of macroH2A integrates independent functions that are instrumental in establishing a structurally and functionally unique chromatin domain. ..
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    ..Conversely, complex III stability was not influenced by the absence of complex I. This structural dependence among complexes I and III was confirmed in a muscle biopsy of a patient harboring a nonsense cytochrome b mutation. ..
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    ..These findings indicate that the humoral immune response against medulloblastoma is directed against diverse antigens that may be useful as diagnostic markers or targets for immunotherapy. ..
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    ..We investigated the relative expression levels of histone macroH2A1 splice variants and correlated it with breast cancer status/prognosis/types...