ZFP57

Summary

Gene Symbol: ZFP57
Description: ZFP57 zinc finger protein
Alias: C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2, zfp-57, zinc finger protein 57 homolog, zinc finger protein 698
Species: human

Top Publications

  1. pmc A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints
    Xiajun Li
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Dev Cell 15:547-57. 2008
  2. doi Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
  3. ncbi Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system
    Maria B Duran Alonso
    Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom
    J Biol Chem 279:25653-64. 2004
  4. pmc Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Diabetes Care 36:505-12. 2013
  5. pmc An atomic model of Zfp57 recognition of CpG methylation within a specific DNA sequence
    Yiwei Liu
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Genes Dev 26:2374-9. 2012
  6. pmc Should I stay or should I go: protection and maintenance of DNA methylation at imprinted genes
    Daniel M Messerschmidt
    Mammalian Development Group, Institute of Medical Biology, Singapore
    Epigenetics 7:969-75. 2012
  7. doi DNA recognition of 5-carboxylcytosine by a zfp57 mutant at an atomic resolution of 0.97 Å
    Yiwei Liu
    Department of Biochemistry, Emory University School of Medicine, 1510 Clifton Road, Atlanta, Georgia 30322, United States
    Biochemistry 52:9310-7. 2013
  8. doi Proteins involved in establishment and maintenance of imprinted methylation marks
    Ruslan Strogantsev
    Department of Physiology Development and Neuroscience, University of Cambridge, Downing Site, Cambridge, CB2 3EG, UK
    Brief Funct Genomics 11:227-39. 2012
  9. doi Nanog regulates molecules involved in stemness and cell cycle-signaling pathway for maintenance of pluripotency of P19 embryonal carcinoma stem cells
    Seung Cheol Choi
    Cardiovascular Center, Department of Cardiology, Korea University Anam Hospital, Seoul, Republic of Korea
    J Cell Physiol 227:3678-92. 2012
  10. doi Estrus synchronization and ovarian hyper-stimulation treatments have negligible effects on cumulus oocyte complex gene expression whereas induction of ovulation causes major expression changes
    Cansu Agca
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
    Mol Reprod Dev 80:102-17. 2013

Scientific Experts

  • Xiajun Li
  • D J G Mackay
  • Sabrina Spengler
  • Jeroen L A Pennings
  • Claire Vandiedonck
  • I K Temple
  • Daniel M Messerschmidt
  • Susanne E Boonen
  • Yiwei Liu
  • Ilaria Baglivo
  • Cansu Agca
  • Mehmet Boyraz
  • Renuka P Dias
  • Franck Court
  • Ellen Anckaert
  • Bethany A Buck-Koehntop
  • Johanne M D Hahnemann
  • Zeynep Tumer
  • Karen Grønskov
  • Xiaodong Cheng
  • Xing Zhang
  • Xiaopan Zuo
  • Ruslan Strogantsev
  • Andrea Riccio
  • Giovanna Grimaldi
  • Seung Cheol Choi
  • Paolo V Pedone
  • Simon Quenneville
  • M Begemann
  • Folami Y Ideraabdullah
  • Adam E Handel
  • Lene Bjerke Laborie
  • Ka Po Tse
  • Ryutaro Hirasawa
  • Yuin Han Loh
  • Maria B Duran Alonso
  • Dung Chi Vu
  • Louise Docherty
  • Johan Smitz
  • Akin Yakan
  • Vincenzo Riso
  • Lutgarde Dooms
  • Ira Salafsky
  • Lise G Larsen
  • Anna Lehmann
  • Necati Taşkın
  • Pablo Lapunzina
  • Lucia De Cesare
  • Katy Billooye
  • Pinar Dayanikli
  • Phuong Bich Nguyen
  • Guiomar Perez de Nanclares
  • Sarah E Flanagan
  • Eamonn R Maher
  • Alex Martin-Trujillo
  • Angela Sparago
  • Sabrina Esposito
  • Valeria Romanelli
  • David Monk
  • Roberto Fattorusso
  • Yuksel Agca
  • Carlo Acerini
  • Zahra Anvar
  • Isabel Iglesias-Platas
  • Frida Sundberg
  • Pierre Antoine Defossez
  • Vijith Puthi
  • Olga Kordonouri
  • Teoman Akcay
  • Flor Sánchez
  • Yusuf Olatunde Olanrewaju
  • Miriam Guitart
  • Ahmed F Massoud
  • Yves Kockaerts
  • Intza Garin
  • Andreas P Haemers
  • C T Bich Ngoc
  • Marco Cammisa
  • Korkut Ulucan
  • Karen Brøndum-Nielsen
  • Hiroyuki Sasaki
  • Fong T Bell
  • Hidehiro Toh
  • Anne C Ferguson-Smith
  • Ji Hyun Choi
  • Chul Min Ahn
  • Ho Tak Lau
  • Do Sun Lim
  • Niels Tommerup
  • Michael Kyba

Detail Information

Publications35

  1. pmc A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints
    Xiajun Li
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Dev Cell 15:547-57. 2008
    ..We generated a knockout mouse in the Zfp57 locus encoding a KRAB zinc finger protein...
  2. doi Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    Deborah J G Mackay
    Division of Human Genetics, University of Southampton, Southampton SO16 6YD, UK
    Nat Genet 40:949-51. 2008
    ..We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared ..
  3. ncbi Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system
    Maria B Duran Alonso
    Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom
    J Biol Chem 279:25653-64. 2004
    ..Zfp-57 mRNA is up-regulated in Schwann cells in response to leukemia inhibitory factor and fibroblast growth factor 2...
  4. pmc Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Diabetes Care 36:505-12. 2013
    ..Approximately 5% of the cases are due to recessive ZFP57 mutations, causing hypomethylation at the TNDM locus and other imprinted loci (HIL)...
  5. pmc An atomic model of Zfp57 recognition of CpG methylation within a specific DNA sequence
    Yiwei Liu
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Genes Dev 26:2374-9. 2012
    Zinc finger transcription factor Zfp57 recognizes the methylated CpG within the TGCCGC element...
  6. pmc Should I stay or should I go: protection and maintenance of DNA methylation at imprinted genes
    Daniel M Messerschmidt
    Mammalian Development Group, Institute of Medical Biology, Singapore
    Epigenetics 7:969-75. 2012
    ..in preimplantation embryos have been identified, in particular, an epigenetic modifier complex formed by ZFP57 and TRIM28/KAP1...
  7. doi DNA recognition of 5-carboxylcytosine by a zfp57 mutant at an atomic resolution of 0.97 Å
    Yiwei Liu
    Department of Biochemistry, Emory University School of Medicine, 1510 Clifton Road, Atlanta, Georgia 30322, United States
    Biochemistry 52:9310-7. 2013
    The Zfp57 gene encodes a KRAB (Krüppel-associated box) domain-containing C2H2 zinc finger transcription factor that is expressed in early development...
  8. doi Proteins involved in establishment and maintenance of imprinted methylation marks
    Ruslan Strogantsev
    Department of Physiology Development and Neuroscience, University of Cambridge, Downing Site, Cambridge, CB2 3EG, UK
    Brief Funct Genomics 11:227-39. 2012
    ..Specifically, we discuss the recent findings of a critical role played by a KRAB zinc-finger protein ZFP57 and its co-factor KAP1/TRIM28 in mediating both processes.
  9. doi Nanog regulates molecules involved in stemness and cell cycle-signaling pathway for maintenance of pluripotency of P19 embryonal carcinoma stem cells
    Seung Cheol Choi
    Cardiovascular Center, Department of Cardiology, Korea University Anam Hospital, Seoul, Republic of Korea
    J Cell Physiol 227:3678-92. 2012
    ..However, expressions of pluripotency markers Cripto, germ cell nuclear factor, Sox2, and Zfp57 as well as leukemia inhibitory factor (LIF)/Stat3 pathway molecules LIF, IL6st, and Stat3 were not affected after ..
  10. doi Estrus synchronization and ovarian hyper-stimulation treatments have negligible effects on cumulus oocyte complex gene expression whereas induction of ovulation causes major expression changes
    Cansu Agca
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
    Mol Reprod Dev 80:102-17. 2013
    ..Ccnb1ip1, and Zp3); maternal effect genes required for embryo development (Zar1, Npm2, Nlrp5, Dnmt1, H1foo, and Zfp57); amino acid degradation; and ketogenesis (Hmgcs2, and Cpt1b)...
  11. doi Genomic imprinting is a parental effect established in mammalian germ cells
    Xiajun Li
    Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, USA
    Curr Top Dev Biol 102:35-59. 2013
    ..Maintenance of the DNA methylation imprint is dependent on two distinct maternal effect genes (Zfp57 and PGC7/Stella)...
  12. pmc On how mammalian transcription factors recognize methylated DNA
    Bethany A Buck-Koehntop
    Department of Chemistry, University of Utah, Salt Lake City, UT, USA
    Epigenetics 8:131-7. 2013
    ..puzzle has been recently revealed by the structural resolution of two different zinc finger proteins, Kaiso and ZFP57, in complex with methylated DNA...
  13. doi Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes
    Franck Court
    Imprinting and Cancer Group, Cancer Epigenetics and Biology Program PEBC, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
    Hum Mutat 34:595-602. 2013
    ..A mutation analysis identified a 1 bp deletion in the ZFP57 gene in a TNDM patient with methylation defects at multiple maternal DMRs...
  14. pmc Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
    Ilaria Baglivo
    Dipartimento di Scienze e Tecnologie Ambientali, Biologiche e Farmaceutiche, Seconda Universita degli Studi di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    FEBS Lett 587:1474-81. 2013
    In the mouse, ZFP57 contains three classical Cys2His2 zinc finger domains (ZF) and recognizes the methylated TGC(met)CGC target sequence using the first and the second ZFs...
  15. pmc Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene
    Mehmet Boyraz
    Sisli Etfal Education and Research Hospital, Division of Pediatric Endocrinology, Istanbul, Turkey
    J Clin Res Pediatr Endocrinol 5:125-8. 2013
    ..patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylation-specific PCR was carried out at 6q24 and mutation analysis of ZFP57 gene was maintained by ..
  16. doi Genes, assisted reproductive technology and trans-illumination
    Renuka P Dias
    Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
    Epigenomics 5:331-40. 2013
    ..g., mutations in KHDC3L [C6ORF221], NLRP2 [NALP2], NLRP7 [NALP7] and ZFP57) and environmental (assisted reproductive technologies) factors that can disturb the normal trans mechanisms for ..
  17. doi Dynamics of imprinted DNA methylation and gene transcription for imprinting establishment in mouse oocytes in relation to culture duration variability
    Ellen Anckaert
    Follicle Biology Laboratory, Vrije Universiteit Brussel, Brussels, Belgium
    Biol Reprod 89:130. 2013
    ..for genes previously shown to be essential for imprinting establishment in oocytes, including Dnmt3a, Dnmt3L, and Zfp57. Oocyte total mRNA levels during in vitro follicle culture showed the timely shutdown in transcription at the ..
  18. pmc Zinc finger protein ZFP57 requires its co-factor to recruit DNA methyltransferases and maintains DNA methylation imprint in embryonic stem cells via its transcriptional repression domain
    Xiaopan Zuo
    Black Family Stem Cell Institute, Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Biol Chem 287:2107-18. 2012
    Previously, we discovered that ZFP57 is a maternal-zygotic effect gene, and it maintains DNA methylation genomic imprint at multiple imprinted regions in mouse embryos...
  19. pmc In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions
    Simon Quenneville
    School of Life Sciences and Frontiers in Genetics Program, Ecole Polytechnique Federale de Lausanne, 1015 Lausanne, Switzerland
    Mol Cell 44:361-72. 2011
    ..Here, we reveal that ZFP57, its cofactor KAP1, and associated effectors bind selectively to the H3K9me3-bearing, DNA-methylated allele of ..
  20. ncbi ZFP57: KAPturing DNA Methylation at Imprinted Loci
    Folami Y Ideraabdullah
    Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, 415 Curie Boulevard, Philadelphia, PA 19104, USA
    Mol Cell 44:341-2. 2011
    In this issue of Molecular Cell, Quenneville et al. (2011) characterize the role of ZFP57 in the maintenance of DNA methylation at imprinting control regions (ICRs), revealing an allele-specific binding pattern, binding motif, and ..
  21. pmc Jmjd1a and Jmjd2c histone H3 Lys 9 demethylases regulate self-renewal in embryonic stem cells
    Yuin Han Loh
    Gene Regulation Laboratory, Genome Institute of Singapore, Singapore 138672
    Genes Dev 21:2545-57. 2007
    ..Jmjd1a demethylates H3K9Me2 at the promoter regions of Tcl1, Tcfcp2l1, and Zfp57 and positively regulates the expression of these pluripotency-associated genes...
  22. doi A KRAB domain zinc finger protein in imprinting and disease
    Ryutaro Hirasawa
    Institute of Molecular Genetics, CNRS and University of Montpellier, 1919 Route de Mende, 34293 Montpellier, France
    Dev Cell 15:487-8. 2008
    ..Li et al. (2008) show in this issue of Developmental Cell that the KRAB zinc finger protein Zfp57 contributes to the embryonic maintenance of these imprints...
  23. doi DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins
    Lene Bjerke Laborie
    Department of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway
    Eur J Pediatr 169:207-13. 2010
    ..Microsatellite marker analysis confirmed the twins being monozygotic. We identified no mutations in ZFP57, KCNJ11, ABCC8, GCK, HNF1A, HNF1B, HNF3B, IPF1, PAX4, or ZIC3...
  24. doi Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations
    Sabrina Spengler
    Institute of Human Genetics, RWTH Aachen, Germany
    Eur J Med Genet 52:415-6. 2009
    ..In >38% of SRS cases a hypomethylation of the H19/IGF2 DMR in 11p15 can be detected. Recently, ZFP57 mutations have been identified as a cause of hypomethylation of multiple imprinted loci...
  25. doi Extending the maternal-zygotic effect with genomic imprinting
    Xiajun Li
    Department of Developmental and Regenerative Biology, Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Hum Reprod 16:695-703. 2010
    ..The molecular mechanisms underlying genomic imprinting are poorly understood. Mouse Zfp57 is the first example of a mammalian maternal-zygotic effect gene and it exhibits maternal-zygotic embryonic ..
  26. pmc The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression
    Adam E Handel
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e10142. 2010
    ..We investigated whether these genetic variations were associated with alteration in gene expression...
  27. doi Identification by gene coregulation mapping of novel genes involved in embryonic stem cell differentiation
    Jeroen L A Pennings
    Laboratory for Health Protection Research, National Institute for Public Health and the Environment, Bilthoven, The Netherlands
    Stem Cells Dev 20:115-26. 2011
    ..For 6 of these genes (Apobec2, Cth, Ptges, Rrad, Zfp57, and 2410146L05Rik), literature data on mouse knockout phenotypes support their putative function...
  28. doi Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
    M Begemann
    Institute of Human Genetics, RWTH, Aachen, Germany
    Clin Genet 80:83-8. 2011
    ..mutation screening of several factors involved in establishment and maintenance of methylation marks including ZFP57, MBD3, DNMT1 and DNMT3L the molecular clue for the ICR1/ICR2 hypomethylation in our patients remained unclear...
  29. doi Transient neonatal diabetes mellitus type 1
    Deborah J G Mackay
    University of Southampton, UK
    Am J Med Genet C Semin Med Genet 154:335-42. 2010
    ..genes throughout the genome, and the majority of these patients have mutations in the transcription factor ZFP57. TNDM1 with maternal hypomethylation has also been observed in patients conceived by assisted reproduction, and in ..
  30. doi 6q24 transient neonatal diabetes
    I Karen Temple
    Academic Unit of Genetic Medicine, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK
    Rev Endocr Metab Disord 11:199-204. 2010
    ..In some individuals, diabetes may be the initial presentation of a more complex imprinting disorder due to recessive mutations in the gene ZFP57 and may be associated with other developmental problems.
  31. pmc Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex
    Claire Vandiedonck
    Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, UK
    Genome Res 21:1042-54. 2011
    ..4%), most significantly the zing finger protein gene ZFP57. Differentially expressed probes are correlated with polymorphisms between haplotypes, consistent with cis effects ..
  32. pmc No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
    Susanne E Boonen
    Center for Applied Human Molecular Genetics, The Kennedy Center, Glostrup, Denmark
    Eur J Hum Genet 20:119-21. 2012
    ..5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at ..
  33. ncbi A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation
    S Okazaki
    Department of Biochemistry, Kumamoto University School of Medicine, Japan
    J Biol Chem 269:6900-7. 1994
    ..Immunocytochemical analysis revealed that this protein is localized in the nucleus. These findings suggest that the Zfp-57 protein is a DNA-binding protein...
  34. pmc Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3
    Ka Po Tse
    Genomic Medicine Core, Chang Gung Molecular Medicine Research Center, Chang Gung University, Taoyuan, Taiwan
    Am J Hum Genet 85:194-203. 2009
    ..3 are associated with NPC. Although some of these relationships may be attributed to linkage disequilibrium between the loci, the findings clearly provide a fresh direction for the study of NPC development...

Research Grants1

  1. Acquisition and maintenance of DNA methylation in genomic imprinting
    Xiajun Li; Fiscal Year: 2010
    ..Our preliminary results indicate that ZFP57 appears to be required for cardiovascular development...