genomic imprinting

Summary

Summary: The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)

Top Publications

  1. ncbi Translating the histone code
    T Jenuwein
    Research Institute of Molecular Pathology IMP at the Vienna Biocenter, Dr Bohrgasse 7, A 1030 Vienna, Austria
    Science 293:1074-80. 2001
  2. ncbi Epigenetic reprogramming in mammalian development
    W Reik
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB2 4AT, UK
    Science 293:1089-93. 2001
  3. pmc A gene atlas of the mouse and human protein-encoding transcriptomes
    Andrew I Su
    The Genomics Institute of the Novartis Research Foundation, 10675 John J Hopkins Drive, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 101:6062-7. 2004
  4. pmc Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective
    Brian DeVeale
    Department of Molecular Genetics, University of Toronto, Toronto, Canada
    PLoS Genet 8:e1002600. 2012
  5. ncbi Stability and flexibility of epigenetic gene regulation in mammalian development
    Wolf Reik
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB22 3AT, UK
    Nature 447:425-32. 2007
  6. ncbi Environmental epigenomics and disease susceptibility
    Randy L Jirtle
    Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Rev Genet 8:253-62. 2007
  7. pmc High-resolution analysis of parent-of-origin allelic expression in the mouse brain
    Christopher Gregg
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Science 329:643-8. 2010
  8. pmc Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome
    Wei Xie
    Ludwig Institute for Cancer Research, 9500 Gilman Drive, La Jolla, CA 92093 0653, USA
    Cell 148:816-31. 2012
  9. pmc Paternally induced transgenerational environmental reprogramming of metabolic gene expression in mammals
    Benjamin R Carone
    Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Cell 143:1084-96. 2010
  10. pmc Dynamic CpG island methylation landscape in oocytes and preimplantation embryos
    Sebastien A Smallwood
    Epigenetics Programme, The Babraham Institute, Cambridge, UK
    Nat Genet 43:811-4. 2011

Research Grants

  1. Methylation Landscape of the Human Genome
    Timothy Bestor; Fiscal Year: 2003
  2. Transplacental Arsenic Induced Hepatic Dysfunction and Vascular Disease
    J Christopher States; Fiscal Year: 2010
  3. The role of NLRP7 and related genes in hydatidiform moles and reproductive failur
    Ignatia Van den Veyver; Fiscal Year: 2009
  4. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri H Beaty; Fiscal Year: 2013
  5. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2012
  6. Regulators of Cancer-Specific DNA Hypermethylation.
    Jean Pierre J Issa; Fiscal Year: 2013
  7. Effects of Bisphenol A Exposure on Genomic Imprinting in the Mouse
    Martha Susiarjo; Fiscal Year: 2012
  8. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2013
  9. DNA Methyltransferase Target Sites in Cancer
    ROCHELLE LEE TIEDEMANN; Fiscal Year: 2013
  10. The Role of DNMT3B in the DNA Methylation of Cancer Cells
    LUCY ANN GODLEY; Fiscal Year: 2012

Detail Information

Publications338 found, 100 shown here

  1. ncbi Translating the histone code
    T Jenuwein
    Research Institute of Molecular Pathology IMP at the Vienna Biocenter, Dr Bohrgasse 7, A 1030 Vienna, Austria
    Science 293:1074-80. 2001
    ....
  2. ncbi Epigenetic reprogramming in mammalian development
    W Reik
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB2 4AT, UK
    Science 293:1089-93. 2001
    ..Here we look at what is known about reprogramming in mammals and discuss how it might relate to developmental potency and imprinting...
  3. pmc A gene atlas of the mouse and human protein-encoding transcriptomes
    Andrew I Su
    The Genomics Institute of the Novartis Research Foundation, 10675 John J Hopkins Drive, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 101:6062-7. 2004
    ..We describe hundreds of regions of correlated transcription and show that some are subject to both tissue and parental allele-specific expression, suggesting a link between spatial expression and imprinting...
  4. pmc Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective
    Brian DeVeale
    Department of Molecular Genetics, University of Toronto, Toronto, Canada
    PLoS Genet 8:e1002600. 2012
    ..The results emphasize the importance of independent validation and suggest that the number of imprinted genes is much closer to the initial estimates...
  5. ncbi Stability and flexibility of epigenetic gene regulation in mammalian development
    Wolf Reik
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB22 3AT, UK
    Nature 447:425-32. 2007
    ..It is not known whether any of the epigenetic marks has a primary role in determining cell and lineage commitment during development...
  6. ncbi Environmental epigenomics and disease susceptibility
    Randy L Jirtle
    Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Rev Genet 8:253-62. 2007
    ..Methods are now becoming available to investigate the relevance of these phenomena to human disease...
  7. pmc High-resolution analysis of parent-of-origin allelic expression in the mouse brain
    Christopher Gregg
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Science 329:643-8. 2010
    b>Genomic imprinting results in preferential expression of the paternal or maternal allele of certain genes. We have performed a genome-wide characterization of imprinting in the mouse embryonic and adult brain...
  8. pmc Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome
    Wei Xie
    Ludwig Institute for Cancer Research, 9500 Gilman Drive, La Jolla, CA 92093 0653, USA
    Cell 148:816-31. 2012
    Differential methylation of the two parental genomes in placental mammals is essential for genomic imprinting and embryogenesis...
  9. pmc Paternally induced transgenerational environmental reprogramming of metabolic gene expression in mammals
    Benjamin R Carone
    Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Cell 143:1084-96. 2010
    ....
  10. pmc Dynamic CpG island methylation landscape in oocytes and preimplantation embryos
    Sebastien A Smallwood
    Epigenetics Programme, The Babraham Institute, Cambridge, UK
    Nat Genet 43:811-4. 2011
    Elucidating how and to what extent CpG islands (CGIs) are methylated in germ cells is essential to understand genomic imprinting and epigenetic reprogramming...
  11. 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
    ..These results significantly advance our understanding of imprinting and suggest a general mechanism for the protection of specific loci against the wave of DNA demethylation that affects the mammalian genome during early embryogenesis...
  12. ncbi The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin
    Takashi Nagano
    Laboratory of Chromatin and Gene Expression, Babraham Institute, Babraham Research Campus, Cambridge CB22 3AT, UK
    Science 322:1717-20. 2008
    ..Our results suggest that Air, and potentially other large ncRNAs, target repressive histone-modifying activities through molecular interaction with specific chromatin domains to epigenetically silence transcription...
  13. pmc Epigenetic reprogramming in plant and animal development
    Suhua Feng
    Howard Hughes Medical Institute and Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, CA 90095, USA
    Science 330:622-7. 2010
    ..Reprogramming occurs in flowering plants and in mammals, and the similarities and differences illuminate developmental and reproductive strategies...
  14. ncbi Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting
    Masahiro Kaneda
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima 411 8540, Japan
    Nature 429:900-3. 2004
    ..These results indicate that both Dnmt3a and Dnmt3L are required for methylation of most imprinted loci in germ cells, but also suggest the involvement of other factors...
  15. pmc Contribution of intragenic DNA methylation in mouse gametic DNA methylomes to establish oocyte-specific heritable marks
    Hisato Kobayashi
    Department of Bioscience, Tokyo University of Agriculture, Tokyo, Japan
    PLoS Genet 8:e1002440. 2012
    Genome-wide dynamic changes in DNA methylation are indispensable for germline development and genomic imprinting in mammals...
  16. pmc Parental origin of sequence variants associated with complex diseases
    Augustine Kong
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 462:868-74. 2009
    ..We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site...
  17. ncbi Epigenetic reprogramming in mouse primordial germ cells
    Petra Hajkova
    Universitat des Saarlandes, FR 8 2 Genetik, Postfach 151150, 66041 Saarbrucken, Germany
    Mech Dev 117:15-23. 2002
    ..Aberrant epigenetic reprogramming in the germ line would cause the inheritance of epimutations that may have consequences for human diseases as suggested by studies on mouse models...
  18. ncbi Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions
    Zhihu Zhao
    Department of Development and Genetics, Evolution Biology Centre, Uppsala University, Norbyvagen 18A, SE 752 36 Uppsala, Sweden
    Nat Genet 38:1341-7. 2006
    ..These observations shed new light on development, cancer epigenetics and the evolution of imprinting...
  19. pmc Genomic imprinting: recognition and marking of imprinted loci
    Lara K Abramowitz
    Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Curr Opin Genet Dev 22:72-8. 2012
    b>Genomic imprinting is an epigenetic process resulting in the monoallelic parent-of-origin-specific expression of a subset of genes in the mammalian genome...
  20. ncbi Dynamic reprogramming of DNA methylation in the early mouse embryo
    Fatima Santos
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge, CB2 4AT, United Kingdom
    Dev Biol 241:172-82. 2002
    ..The three phases of methylation reprogramming may have roles in imprinting, the control of gene expression, and the establishment of nuclear totipotency...
  21. pmc Sex-specific parent-of-origin allelic expression in the mouse brain
    Christopher Gregg
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Science 329:682-5. 2010
    b>Genomic imprinting results in preferential gene expression from paternally versus maternally inherited chromosomes. We used a genome-wide approach to uncover sex-specific parent-of-origin allelic effects in the adult mouse brain...
  22. ncbi Genomic imprinting: the emergence of an epigenetic paradigm
    Anne C Ferguson-Smith
    Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK
    Nat Rev Genet 12:565-75. 2011
    ..particular, many principles of the epigenetic control of genome function have been uncovered by studies of genomic imprinting. The phenomenon of genomic imprinting, which results in some genes being expressed in a parental--origin-..
  23. ncbi Genomic imprinting: a mammalian epigenetic discovery model
    Denise P Barlow
    CeMM, Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
    Annu Rev Genet 45:379-403. 2011
    b>Genomic imprinting is an epigenetic process leading to parental-specific expression of one to two percent of mammalian genes that offers one of the best model systems for a molecular analysis of epigenetic regulation in development and ..
  24. ncbi The history of cancer epigenetics
    Andrew P Feinberg
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Rev Cancer 4:143-53. 2004
  25. ncbi The SRA protein Np95 mediates epigenetic inheritance by recruiting Dnmt1 to methylated DNA
    Jafar Sharif
    Tohoku University Biomedical Engineering Research Organization TUBERO, 2 1 Seiryo machi, Aoba ku, Sendai 980 8575, Japan
    Nature 450:908-12. 2007
    ..CpG methylation and is essential for the regulation of gene expression, silencing of parasitic DNA elements, genomic imprinting and embryogenesis...
  26. ncbi PGC7 binds histone H3K9me2 to protect against conversion of 5mC to 5hmC in early embryos
    Toshinobu Nakamura
    Department of Pathology, Graduate School of Medicine, Osaka University, Osaka 565 0871, Japan
    Nature 486:415-9. 2012
    ..This type of regulatory mechanism could be involved in DNA modifications in somatic cells as well as in early embryos...
  27. ncbi Epigenetic inheritance at the agouti locus in the mouse
    H D Morgan
    Department of Biochemistry, University of Sydney, NSW, 2006, Australia
    Nat Genet 23:314-8. 1999
    ..Because retrotransposons are abundant in mammalian genomes, this type of inheritance may be common...
  28. ncbi De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    T Matsuura
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Nat Genet 15:74-7. 1997
    ..It may represent an example of a human genetic disorder associated with a locus producing functionally distinct imprinted and biallelically expressed gene products...
  29. pmc Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation
    Da Jia
    Department of Biochemistry, Emory University School of Medicine, 1510 Clifton Road, Atlanta, Georgia 30322, USA
    Nature 449:248-51. 2007
    ..These results suggest a basis for the recognition and methylation of differentially methylated regions in imprinted genes, involving the detection of both nucleosome modification and CpG spacing...
  30. ncbi A survey of tissue-specific genomic imprinting in mammals
    Adam R Prickett
    Department of Medical and Molecular Genetics, King s College London, 8th Floor Tower Wing, Guy s Hospital, London, SE1 9RT, UK
    Mol Genet Genomics 287:621-30. 2012
    ..However, a subset of genes is subject to the epigenetic silencing of one of the parental copies by genomic imprinting. In this review, we explore the evidence for variability in genomic imprinting between different tissue and ..
  31. ncbi Placental-specific IGF-II is a major modulator of placental and fetal growth
    Miguel Constancia
    Laboratory of Developmental Genetics and Imprinting, Developmental Genetics Programme, The Babraham Institute, Cambridge CB2 4AT, UK
    Nature 417:945-8. 2002
    ..We propose that the Igf2 gene, and perhaps other imprinted genes, control both the placental supply of, and the genetic demand for, maternal nutrients to the mammalian fetus...
  32. ncbi Understanding transgenerational epigenetic inheritance via the gametes in mammals
    Lucia Daxinger
    Queensland Institute of Medical Research, Herston, Queensland 4006, Australia
    Nat Rev Genet 13:153-62. 2012
    ..Interestingly, many cases of epigenetic inheritance seem to involve repeat sequences...
  33. ncbi UBE3A/E6-AP mutations cause Angelman syndrome
    T Kishino
    Genetics Division, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 15:70-3. 1997
    ..Our results demonstrate that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease...
  34. ncbi KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints
    David N Ciccone
    Epigenetics Program, Novartis Institutes for BioMedical Research, 250 Massachusetts Avenue, Cambridge, Massachusetts 02139, USA
    Nature 461:415-8. 2009
    ..Our results suggest that demethylation of H3K4 is critical for establishing the DNA methylation imprints during oogenesis...
  35. ncbi Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
    A C Bell
    Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892 0540, USA
    Nature 405:482-5. 2000
    ..Our results reveal that DNA methylation can control gene expression by modulating enhancer access to the gene promoter through regulation of an enhancer boundary...
  36. pmc Protection against de novo methylation is instrumental in maintaining parent-of-origin methylation inherited from the gametes
    Charlotte Proudhon
    INSERM U934 CNRS UMR3215, Institut Curie, 75248 Paris Cedex 05, France
    Mol Cell 47:909-20. 2012
    ..Here we provide evidence that protection against de novo methylation acts as an equal major pivot, at implantation and throughout life...
  37. ncbi Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
    Annie Varrault
    Institut de Genomique Fonctionnelle, CNRS UMR5203, INSERM U661, Universite Montpellier 1, Universite Montpellier 2, Montpellier, F 34094, France
    Dev Cell 11:711-22. 2006
    b>Genomic imprinting is an epigenetic mechanism of regulation that restrains the expression of a small subset of mammalian genes to one parental allele...
  38. ncbi Chromatin mechanisms in genomic imprinting
    Slim Kacem
    CNRS and University of Montpellier I and II, Montpellier, France
    Mamm Genome 20:544-56. 2009
    ..Together, the newly discovered chromatin mechanisms provide further clues for addressing imprinting-related pathologies in humans...
  39. ncbi Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1
    Faizaan Mohammad
    Department of Genetics and Pathology, Dag Hammarskjölds väg 20, 75185 Rudbeck Laboratory, Uppsala University, Uppsala 75185, Sweden
    Development 137:2493-9. 2010
    ....
  40. ncbi Early nutrition, epigenetic changes at transposons and imprinted genes, and enhanced susceptibility to adult chronic diseases
    Robert A Waterland
    Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nutrition 20:63-8. 2004
  41. pmc Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus
    Toshiaki Watanabe
    Division of Human Genetics and Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima, Shizuoka, 411 8540, Japan
    Science 332:848-52. 2011
    b>Genomic imprinting causes parental origin-specific monoallelic gene expression through differential DNA methylation established in the parental germ line...
  42. pmc Transcription is required for establishment of germline methylation marks at imprinted genes
    Mita Chotalia
    Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB22 3AT, United Kingdom
    Genes Dev 23:105-17. 2009
    b>Genomic imprinting requires the differential marking by DNA methylation of genes in male and female gametes...
  43. ncbi Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
    L Lefebvre
    Wellcome CRC Institute of Cancer and Developmental Biology, Cambridge, UK
    Nat Genet 20:163-9. 1998
    ..Our results provide evidence for the involvement of an imprinted gene in the control of adult behaviour...
  44. ncbi Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice
    Kenichiro Hata
    Cardiovascular Research Center, Massachusetts General Hospital, Department of Medicine, Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
    Development 129:1983-93. 2002
    b>Genomic imprinting is regulated by differential methylation of the paternal and maternal genome. However, it remains unknown how parental imprinting is established during gametogenesis...
  45. ncbi De novo DNA methylation: a germ cell perspective
    Sebastien A Smallwood
    Epigenetics Programme, The Babraham Institute, Cambridge CB22 3AT, UK
    Trends Genet 28:33-42. 2012
    ..challenge for nearly 20 years, but represents a key step towards a full understanding of several biological processes including genomic imprinting, epigenetic reprogramming and the establishment of the pluripotent state in early embryos.
  46. ncbi Genomic imprinting: parental influence on the genome
    W Reik
    Laboratory of Developmental Genetics and Imprinting, Developmental Genetics Programme, Babraham Institute, Cambridge CB2 4AT, UK
    Nat Rev Genet 2:21-32. 2001
    b>Genomic imprinting affects several dozen mammalian genes and results in the expression of those genes from only one of the two parental chromosomes...
  47. pmc Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus
    Raffaella Nativio
    Department of Oncology, University of Cambridge, Cancer Research UK Cambridge Research Institute, Cambridge, United Kingdom
    PLoS Genet 5:e1000739. 2009
    ....
  48. pmc Genomic landscape of human allele-specific DNA methylation
    Fang Fang
    Molecular and Computational Biology, Department of Biological Sciences, University of Southern California, Los Angeles, California, USA
    Proc Natl Acad Sci U S A 109:7332-7. 2012
    ..More generally, our model provides the analytical complement to cutting-edge experimental technologies for surveying ASM in specific cell types and across species...
  49. pmc Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II
    He Zhang
    Department of Biochemistry and Molecular Biology, Ninth People s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
    J Cell Biol 193:475-87. 2011
    ..CTCF epigenetically governs allelic gene expression of IGF2 by orchestrating chromatin loop structures involving PRC2...
  50. pmc Association of cord blood methylation fractions at imprinted insulin-like growth factor 2 (IGF2), plasma IGF2, and birth weight
    Cathrine Hoyo
    Department of Community and Family Medicine, Duke University Medical Center, 2200 West Main Street, Ste 600, Durham, NC 27705, USA
    Cancer Causes Control 23:635-45. 2012
    ..We examined associations among DNA methylation at IGF2 differentially methylated regions (DMRs), circulating IGF2 protein concentrations in umbilical cord blood (UCB) and birth weight in newborns...
  51. pmc The human retinoblastoma gene is imprinted
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    PLoS Genet 5:e1000790. 2009
    b>Genomic imprinting is an epigenetic process leading to parent-of-origin-specific DNA methylation and gene expression. To date, approximately 60 imprinted human genes are known...
  52. pmc The imprinted H19 noncoding RNA is a primary microRNA precursor
    Xuezhong Cai
    Center for Virology and Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    RNA 13:313-6. 2007
    ..These data demonstrate that H19 can function as a primary microRNA precursor and suggest that H19 expression results in the post-transcriptional downregulation of specific mRNAs during vertebrate development...
  53. pmc Extensive demethylation of repetitive elements during seed development underlies gene imprinting
    Mary Gehring
    Howard Hughes Medical Institute HHMI, Fred Hutchinson Cancer Research Center FHCRC, 1100 Fairview Avenue North, Seattle, WA 98109, USA
    Science 324:1447-51. 2009
    ..These data suggest that imprinting in plants evolved from targeted methylation of transposable element insertions near genic regulatory elements followed by positive selection when the resulting expression change was advantageous...
  54. pmc Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development
    Ryutaro Hirasawa
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima 411 8540, Japan
    Genes Dev 22:1607-16. 2008
    ..Consistent with these results we find that zygotic Dnmt1 is expressed in the preimplantation embryo. Thus, contrary to the previous reports, Dnmt1 alone is sufficient to maintain the methylation marks of the imprinted genes...
  55. ncbi Phenotypic plasticity and the epigenetics of human disease
    Andrew P Feinberg
    Department of Medicine and Center for Epigenetics, Institute for Basic Biomedical Sciences, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, Maryland 21205, USA
    Nature 447:433-40. 2007
    ..Increased understanding of epigenetic-disease mechanisms could lead to disease-risk stratification for targeted intervention and to targeted therapies...
  56. ncbi Mechanisms regulating imprinted genes in clusters
    Carol A Edwards
    Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3DY, UK
    Curr Opin Cell Biol 19:281-9. 2007
    ..At least one, at the Igf2/H19 locus, is known to function as an insulator. Analysis of ICRs suggests that maternal and paternal methylation imprints function in distinct ways...
  57. ncbi The epigenetic progenitor origin of human cancer
    Andrew P Feinberg
    Department of Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, Maryland 21205, USA
    Nat Rev Genet 7:21-33. 2006
    ..Therefore, non-neoplastic but epigenetically disrupted stem/progenitor cells might be a crucial target for cancer risk assessment and chemoprevention...
  58. ncbi Global survey of genomic imprinting by transcriptome sequencing
    Tomas Babak
    Rosetta Inpharmatics, LLC, a wholly owned subsidiary of Merck and Co, 401 Terry Avenue North, Seattle, WA 98109, USA
    Curr Biol 18:1735-41. 2008
    b>Genomic imprinting restricts gene expression to a paternal or maternal allele...
  59. ncbi DEMETER, a DNA glycosylase domain protein, is required for endosperm gene imprinting and seed viability in arabidopsis
    Yeonhee Choi
    Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Cell 110:33-42. 2002
    ..In leaf, ectopic DME expression induces MEA and nicks the MEA promoter. Thus, a DNA glycosylase activates maternal expression of an imprinted gene in the central cell...
  60. ncbi 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
    ..This is the first description of a heritable global imprinting disorder that is compatible with life...
  61. pmc Gender-specific methylation differences in relation to prenatal exposure to cigarette smoke
    Susan K Murphy
    Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Duke University Medical Center, Durham, NC 27708, USA
    Gene 494:36-43. 2012
    ..Our findings suggest that IGF2 DMR plasticity is an important mechanism by which in utero adjustments to environmental toxicants are conferred. Larger studies to replicate these findings are required...
  62. 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
    ..The effects on genomic imprinting are consistent with the maternal-zygotic lethality of Zfp57 mutants.
  63. pmc Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
    Linyan Meng
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 21:3001-12. 2012
    The Angelman syndrome gene, UBE3A, is subject to genomic imprinting controlled by mechanisms that are only partially understood. Its antisense transcript, UBE3A-ATS, is also imprinted and hypothesized to suppress UBE3A in cis...
  64. pmc Differentially methylated regions of imprinted genes in prenatal, perinatal and postnatal human tissues
    Susan K Murphy
    Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, United States of America
    PLoS ONE 7:e40924. 2012
    ..Similarity of inter-individual and intra-individual methylation at some, but not all of the DMRs analyzed supports the possibility that methylation of these regions can serve as useful biosensors of exposure...
  65. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
    ....
  66. pmc Sex- and diet-specific changes of imprinted gene expression and DNA methylation in mouse placenta under a high-fat diet
    Catherine Gallou-Kabani
    INSERM, AP HP, Universite Paris Descartes, Faculte de Medecine, Hopital Necker Enfants Malades, U781, Paris, France
    PLoS ONE 5:e14398. 2010
    ..Indeed monoallelic behaviour and sensitivity to changes in regional epigenetic state render imprinted genes both vulnerable and adaptable...
  67. pmc Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
    Angela M Mabb
    Department of Cell and Molecular Physiology, UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC 27599, USA
    Trends Neurosci 34:293-303. 2011
    ..In the process, we identify major gaps in our knowledge that, if bridged, could move us closer to identifying treatments for this debilitating neurodevelopmental disorder...
  68. pmc Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
    Stormy J Chamberlain
    University of Connecticut Stem Cell Institute and Departments of Genetics and Developmental Biology and Neuroscience, University of Connecticut Health Center, Farmington, CT 06030, USA
    Proc Natl Acad Sci U S A 107:17668-73. 2010
    Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders of genomic imprinting. AS results from loss of function of the ubiquitin protein ligase E3A (UBE3A) gene, whereas the genetic defect in PWS is unknown...
  69. ncbi Assisted reproductive therapies and imprinting disorders--a preliminary British survey
    A G Sutcliffe
    Department of Child Health, Royal Free and University College Medical School, Royal Free Hospital, London, UK
    Hum Reprod 21:1009-11. 2006
    ..have suggested a higher risk of Beckwith-Wiedemann syndrome (BWS) and Angelman syndrome (AS) after assisted reproductive technologies (ARTs), but it is unclear whether this might also apply to other disorders of genomic imprinting.
  70. ncbi Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies
    M V Gomes
    Department of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Avenida Bandeirantes, 3900, Monte Alegre, Ribeirão Preto 14049 900, Sao Paulo, Brazil
    Mol Hum Reprod 15:471-7. 2009
    b>Genomic imprinting alterations have been shown to be associated with assisted reproductive technologies (ARTs) in animals...
  71. ncbi Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    Christine Gicquel
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hopital Armand Trousseau, AP HP, 26 Avenue Arnold Netter, 75012 Paris, France
    Nat Genet 37:1003-7. 2005
    ..These findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS...
  72. pmc Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster
    Christine M Williamson
    Medical Research Council Mammalian Genetics Unit, Harwell Science and Innovation Campus, Harwell, United Kingdom
    PLoS Genet 7:e1001347. 2011
    ..These results have broad implications for understanding the hierarchy of events in epigenetic silencing by macroRNAs...
  73. pmc The dynamics of genome-wide DNA methylation reprogramming in mouse primordial germ cells
    Stefanie Seisenberger
    Epigenetics Programme, The Babraham Institute, Cambridge CB22 3AT, UK
    Mol Cell 48:849-62. 2012
    ..Our results provide a framework for the understanding of the epigenetic ground state of pluripotency in the germline...
  74. ncbi Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients
    Hisato Kobayashi
    Department of Obstetrics, Tohoku University Graduate School of Medicine, 2 1 Seiryo cho, Aoba ku, Sendai 980 8575, Japan
    Hum Mol Genet 16:2542-51. 2007
    ..Our data suggest that sperm from infertile patients, especially those with oligospermia, may carry a higher risk of transmitting incorrect primary imprints to their offspring, highlighting the need for more research into ART...
  75. pmc Genome-wide demethylation of Arabidopsis endosperm
    Tzung Fu Hsieh
    Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA
    Science 324:1451-4. 2009
    ..Our findings demonstrate extensive reconfiguration of the endosperm methylation landscape that likely reinforces transposon silencing in the embryo...
  76. pmc CTCF physically links cohesin to chromatin
    Eric D Rubio
    Department of Radiation Oncology, University of Washington School of Medicine, Seattle WA 98195, USA
    Proc Natl Acad Sci U S A 105:8309-14. 2008
    ..These results have implications for the functional role of cohesin subunits in the pathogenesis of Cornelia de Lange syndrome and Roberts syndromes...
  77. pmc The function of non-coding RNAs in genomic imprinting
    Martha V Koerner
    Research Center for Molecular Medicine of the Austrian Academy of Sciences, Dr Bohr Gasse 9 4, Vienna Biocenter, A 1030 Vienna, Austria
    Development 136:1771-83. 2009
    ..A better understanding of these downstream mechanisms will help to improve our general understanding of the function of ncRNAs throughout the genome...
  78. pmc Distinct physiological and behavioural functions for parental alleles of imprinted Grb10
    Alastair S Garfield
    Department of Biology and Biochemistry and Centre for Regenerative Medicine, University of Bath, Claverton Down, Bath BA2 7AY, UK
    Nature 469:534-8. 2011
    ..Thus Grb10 is, so far, a unique imprinted gene, able to influence distinct physiological processes, fetal growth and adult behaviour, owing to actions of the two parental alleles in different tissues...
  79. pmc Genomic imprinting in mammals: emerging themes and established theories
    Andrew J Wood
    Massachusetts General Hospital, United States of America
    PLoS Genet 2:e147. 2006
    ..Several theories have been proposed to explain the role that genomic imprinting has played over the course of mammalian evolution, but at present it is not clear if a single hypothesis can ..
  80. pmc Maternal Rnf12/RLIM is required for imprinted X-chromosome inactivation in mice
    Jongdae Shin
    Program in Gene Function and Expression, University of Massachusetts Medical School UMMS, Worcester, Massachusetts 01605, USA
    Nature 467:977-81. 2010
    ..These results assign crucial functions to the maternal deposit of Rnf12/RLIM for the initiation of imprinted XCI...
  81. ncbi Decreased placental methylation at the H19/IGF2 imprinting control region is associated with normotensive intrauterine growth restriction but not preeclampsia
    D K Bourque
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Placenta 31:197-202. 2010
    Many genes exhibiting genomic imprinting, parent-of-origin differences in gene expression, are involved in regulating placental and fetal growth...
  82. pmc Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit
    Jie Liu
    Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 102:5513-8. 2005
    ..The 1A region is a maternal imprint mark that contains one or more methylation-sensitive cis-acting elements that suppress G(s)alpha expression from the paternal allele in a tissue-specific manner...
  83. ncbi Disruption of imprinting caused by deletion of the H19 gene region in mice
    P A Leighton
    Howard Hughes Medical Institute, Princeton University, New Jersey 08544, USA
    Nature 375:34-9. 1995
    ..The somatic overgrowth of heterozygotes for the maternal deletion is attributed to a gain of function of insulin-like growth factor 2, rather than a loss of function of H19...
  84. ncbi Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta
    Yoichi Sekita
    Department of Epigenetics, Medical Research Institute, Tokyo Medical and Dental University, 2 3 10 Kandasurugadai, Chiyoda ku, Tokyo 101 0062, Japan
    Nat Genet 40:243-8. 2008
    ....
  85. ncbi Polycomb group proteins Ezh2 and Rnf2 direct genomic contraction and imprinted repression in early mouse embryos
    Rémi Terranova
    Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH 4058 Basel, Switzerland
    Dev Cell 15:668-79. 2008
    b>Genomic imprinting regulates parental-specific expression of particular genes and is required for normal mammalian development. How imprinting is established during development is, however, largely unknown...
  86. ncbi Non-coding RNAs in imprinted gene clusters
    Helene Royo
    LBME CNRS, UMR 5095, IFR 109, 118 route de Narbonne, 31062 Cedex, Toulouse, France
    Biol Cell 100:149-66. 2008
    ..review, we summarize our current understanding of the molecular and biological roles of these ncRNAs, both in terms of their contribution to genomic imprinting control, as well as in terms of cellular RNA targets they might interact with.
  87. ncbi Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture
    L E Young
    Roslin Institute Edinburgh, Roslin, Midlothian, Scotland, UK
    Nat Genet 27:153-4. 2001
    ..This highlights the potential benefits of epigenetic diagnostic screening in developing embryo procedures...
  88. pmc Regulation of imprinted gene expression in Arabidopsis endosperm
    Tzung Fu Hsieh
    Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA
    Proc Natl Acad Sci U S A 108:1755-62. 2011
    ..We did not detect any imprinted genes in the embryo. Our results show that imprinted gene expression is an extensive mechanistically complex phenomenon that likely affects multiple aspects of seed development...
  89. pmc High-resolution analysis of parent-of-origin allelic expression in the Arabidopsis Endosperm
    Philip Wolff
    Department of Biology and Zurich Basel Plant Science Center, Swiss Federal Institute of Technology, Zurich, Switzerland
    PLoS Genet 7:e1002126. 2011
    b>Genomic imprinting is an epigenetic phenomenon leading to parent-of-origin specific differential expression of maternally and paternally inherited alleles...
  90. pmc Dynamic stage-specific changes in imprinted differentially methylated regions during early mammalian development and prevalence of non-CpG methylation in oocytes
    Shin Ichi Tomizawa
    Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima, Japan
    Development 138:811-20. 2011
    ..These results provide evidence for a unique methylation profile in oocytes and reveal the surprisingly dynamic nature of DMRs in the early embryo...
  91. ncbi Gene-specific timing and epigenetic memory in oocyte imprinting
    Diana Lucifero
    McGill University, Montreal Children s Hospital Research Institute and Departments of Pediatrics, Human Genetics and Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada H3H 1P3
    Hum Mol Genet 13:839-49. 2004
    ..These findings contribute to our understanding of the epigenetic mechanisms underlying imprint acquisition during female germ cell development and have implications for the practice of assisted reproductive technologies...
  92. ncbi Genomic imprinting at the mammalian Dlk1-Dio3 domain
    Simao Teixeira da Rocha
    Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK
    Trends Genet 24:306-16. 2008
    b>Genomic imprinting causes genes to be expressed or repressed depending on their parental origin...
  93. ncbi Beckwith-Wiedemann syndrome
    Sanaa Choufani
    Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet C Semin Med Genet 154:343-54. 2010
    ..Recent reports of BWS cases have identified mutations outside the chromosome 11p15.5 critical region, thereby broadening the challenges in the diagnosis and genetic counseling of individuals and families with BWS...
  94. pmc Regulation of alternative polyadenylation by genomic imprinting
    Andrew J Wood
    Department of Medical and Molecular Genetics, King s College London, Guy s Hospital, London SE1 9RT, United Kingdom
    Genes Dev 22:1141-6. 2008
    ..On methylated alleles, the internal promoter is inactive and elongation proceeds to downstream polyadenylation sites. This demonstrates that epigenetic modifications can influence utilization of alternative polyadenylation sites...
  95. pmc Prenatal famine and genetic variation are independently and additively associated with DNA methylation at regulatory loci within IGF2/H19
    Elmar W Tobi
    Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    PLoS ONE 7:e37933. 2012
    ..5 standard deviations relative to the variation in the population. Our analyses suggest that environmental and genetic factors could have independent and additive similarly sized effects on DNA methylation at the same regulatory site...
  96. ncbi Metastable epialleles in mammals
    Vardhman K Rakyan
    School of Molecular and Microbial Biosciences, University of Sydney, NSW 2006, Sydney, Australia
    Trends Genet 18:348-51. 2002
    ..At this stage, it is unclear how common these alleles are, but an appreciation of their existence will aid in their identification...
  97. ncbi The primate-specific microRNA gene cluster (C19MC) is imprinted in the placenta
    Marie Noguer-Dance
    Laboratoire de Biologie Moleculaire Eucaryote, Universite de Toulouse, Toulouse, France
    Hum Mol Genet 19:3566-82. 2010
    ..19 microRNA cluster (C19MC), the largest human microRNA gene cluster discovered so far, is regulated by genomic imprinting with only the paternally inherited allele being expressed in the placenta...
  98. ncbi Genomic imprinting effects on brain development and function
    Lawrence S Wilkinson
    Behavioural Genetics Group, School of Psychology and Department of Psychological Medicine, School of Medicine, Cardiff University, Tower Building, Park Place, Cardiff, CF10 3AT, UK
    Nat Rev Neurosci 8:832-43. 2007
    ..There is increasing evidence that imprinted genes influence brain function and behaviour by affecting neurodevelopmental processes...
  99. ncbi The H19 locus: role of an imprinted non-coding RNA in growth and development
    Anne Gabory
    Biology of Development and Reproduction, INRA ENVA, UMR 1198, Jouy en Josas, France
    Bioessays 32:473-80. 2010
    ..This first in vivo evidence of a functional role for the H19 locus provides new insights into how genomic imprinting helps to control embryonic growth.
  100. pmc The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes
    Chris Wallace
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 42:68-71. 2010
    ..2. The highest association was at marker rs2304256 (odds ratio (OR) = 0.86; 95%CI = 0.82-0.90) in the TYK2 gene, which has previously been associated with systemic lupus erythematosus and multiple sclerosis...
  101. pmc Genomic imprinting: employing and avoiding epigenetic processes
    Marisa S Bartolomei
    Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Genes Dev 23:2124-33. 2009
    b>Genomic imprinting refers to an epigenetic mark that distinguishes parental alleles and results in a monoallelic, parental-specific expression pattern in mammals...

Research Grants66

  1. Methylation Landscape of the Human Genome
    Timothy Bestor; Fiscal Year: 2003
    ..of methylation patterns in mice is lethal and is associated with abnormalities of genome stability, genomic imprinting, and X inactivation...
  2. Transplacental Arsenic Induced Hepatic Dysfunction and Vascular Disease
    J Christopher States; Fiscal Year: 2010
    ..This project uses a mouse model of fetal arsenic exposure induced vascular disease to investigate effects of fetal arsenic exposure on liver development that likely cause vascular disease by young adulthood. ..
  3. The role of NLRP7 and related genes in hydatidiform moles and reproductive failur
    Ignatia Van den Veyver; Fiscal Year: 2009
    ..This project has the potential to result in new understanding of genetic imprinting disorders and causes of obstetrics complications and pregnancy loss in general. ..
  4. INTERNATIONAL GENETIC EPIDEMIOLOGY OF ORAL CLEFTS
    Terri H Beaty; Fiscal Year: 2013
    ....
  5. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2012
    ..the control and function of DNA methylation, an pigenetic process required for X chromosome-inactivation, genomic imprinting and normal development in mammals...
  6. Regulators of Cancer-Specific DNA Hypermethylation.
    Jean Pierre J Issa; Fiscal Year: 2013
    ..In normal cells, DNA methylation is rare in promoter-associated CpG islands but important to X-inactivation, genomic imprinting and repression of repetitive elements...
  7. Effects of Bisphenol A Exposure on Genomic Imprinting in the Mouse
    Martha Susiarjo; Fiscal Year: 2012
    ..In addition to providing general mechanistic insights into BPA actions, the proposed work will specifically elucidate the potential etiology of imprinting diseases with underlying environmental causes. ..
  8. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2013
    ..for normal development of higher eukaryotes, presumably in part because of its role in genome defense, genomic imprinting and in other silencing processes such as X-chromosome inactivation...
  9. DNA Methyltransferase Target Sites in Cancer
    ROCHELLE LEE TIEDEMANN; Fiscal Year: 2013
    ..that modulates the activity of the de novo methyltransferases and has important implications in maternal genomic imprinting. DNA methylation and the DNMTs are of particular interest in cancer as aberrant methylation such as gene- ..
  10. The Role of DNMT3B in the DNA Methylation of Cancer Cells
    LUCY ANN GODLEY; Fiscal Year: 2012
    ..of truncated DNMT3B proteins are likely to reveal paradigms common to other processes that involve DNA methylation, such as mammalian embryonic development, X-chromosome inactivation, genomic imprinting, and aging.
  11. Regulation and Function of Active DNA Demethylation in Arabidopsis
    Daniel Zilberman; Fiscal Year: 2013
    ..Both plants and mammals use DNA methylation to regulate genomic imprinting - epigenetic marking and resultant gene expression only from an allele inherited from either the male or the ..
  12. Control and Function of Histone H3 Lysine 27 Methylation in Neurospora
    Eric U Selker; Fiscal Year: 2013
    ..have implicated this mark in long-term repression of genes in development, as well as in X-inactivation, genomic imprinting and cancer. Details of how H3K27me3 functions and how it is controlled remain unknown, however...
  13. Pathogenetics of the FOX transcription factor gene cluster on 16q24.1
    Pawel Stankiewicz; Fiscal Year: 2013
    ..We hypothesize that this complex regulation of Foxf1 may be due to both position effects and genomic imprinting in a tissue- and time-specific manner;ACD/MPV can also be caused by disruption of other gene(s) or FOXF1 ..
  14. Epigenetic Regulation of Imprinting in Mouse Embryo
    Marisa S Bartolomei; Fiscal Year: 2012
    ..Specific Aim 3 will determine whether the EED Polycomb Group protein is required for the establishment of genomic imprinting in the early embryo...
  15. DNA Demethylation and Transcriptional Gene Silencing
    Jian Kang Zhu; Fiscal Year: 2013
    ..roles in the regulation of chromatin structure and genome stability, developmental specific gene expression, genomic imprinting, and transcriptional silencing of transgenes and other foreign DNA...
  16. SEQUENCES CONTROLLING H19 GENE IMPRINTING
    Marisa S Bartolomei; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): A subset of genes in mammals is regulated by genomic imprinting, a process that results in unequal expression of the maternal and paternal alleles of this class of genes...
  17. Mechanisms by which Exendin-4 normalizes epigenetic modifications in IUGR liver
    Sara E Pinney; Fiscal Year: 2013
    ..of Cell and Developmental Biology at PENN, an established authority in the role of DNA methylation in genomic imprinting and X inactivation in mammalian development...
  18. PEROMYSCUS LABORATORY MODELS FOR BIOMEDICAL RESEARCH
    Gabor Szalai; Fiscal Year: 2013
    ..and adult ataxia, and epilepsy, gene expression in disease and environmental toxicology, and mechanisms of genomic imprinting, Peromyscus is a reservoir for two emerging infectious microorganisms...
  19. Mechanisms of Polycomb Silencing
    Yi Zhang; Fiscal Year: 2010
    ..multiple fundamental biological processes, including heterochromatin formation, transcriptional regulation, genomic imprinting, and dosage compensation...
  20. DNA Hypomethylation and Cortical Neuronal Degeneration
    Guoping Fan; Fiscal Year: 2010
    ..DNA methylation is a major epigenetic factor involved in gene regulation, genomic imprinting, and X-inactivation...
  21. Comprehensive identification of parent of origin effects in human and mouse
    ANDREW JAMES SHARP; Fiscal Year: 2013
    ..This section must be no longer than 30 lines of text. Genomic imprinting is an epigenetic mechanism that modifies gene expression in a manner that is dependent on parental origin...
  22. Fourth Annual OSSD Meeting
    Jill B Becker; Fiscal Year: 2010
    ..Origins of Sex Differences in Mortality;Genetic and Environmental Determinants of Parent of Origin Specific Genomic Imprinting;Pain, its Treatment, and the Influence of Sex;Antenatal Corticoids: Sex-based Differences in Respiratory ..
  23. Measuring the impact of prenatal alcohol exposure on the fetal epigenome
    Michael C Golding; Fiscal Year: 2011
    ..The best models for investigating epigenetic programming are genomic imprinting, X-inactivation and retrotransposon silencing...
  24. The dynamics of DNA methylation in normal and cancer cells
    GREGORY ADAM HORWITZ; Fiscal Year: 2011
    ..of cellular functions and pathologies, including tissue-specific gene expression, cell differentiation, genomic imprinting, X chromosome inactivation, regulation of chromatin structure, aging, and carcinogenesis...
  25. Genetic & Epigenetic Modifiers of Maternal-Fetal Transfer of Toxicants & Outcomes
    Adrienne S Ettinger; Fiscal Year: 2011
    ..An exploratory aim will investigate genomic imprinting and gene expression in the maternal-fetal unit using evolutionary theories of "gestational conflict" to ..
  26. RNAi and DNA Methylation Control Genomic Stability and Transcriptional Silencing
    JOHN KIMBLE FRAZER; Fiscal Year: 2010
    ..This project will explore the mechanisms used by advanced genetic organisms to preserve and regulate their genomes, so as to prevent these types of harmful events. ..
  27. Genetic Studies in Gestational Trophoblastic Disease
    Ignatia Van den Veyver; Fiscal Year: 2009
    ..4. The hypothesis for this project is that CHM as a disorder creates an ideal resource to study genomic imprinting in reproductive health and disease...
  28. Environment, Imprinting, and Neurodevelopment
    CARMEN JOSEPH MARSIT; Fiscal Year: 2013
    ..Due to the unique regulatory features of imprinted genes and their sensitivity to environmental exposures, genomic imprinting has been proposed as an ideal integrated measure of the intrauterine environment for use in epidemiologic ..
  29. Epigenetic Variation in Mice with Defective Imprinting
    J Richard Chaillet; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Genomic imprinting is a molecular process that distinguishes, with different epigenetic marks, the maternal and paternal alleles of genes...
  30. Acquisition and maintenance of DNA methylation in genomic imprinting
    Xiajun Li; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Genomic imprinting is essential for mammalian development. Dysregulation of imprinting genes can lead to cancer, diabetes, cardiovascular diseases and other kinds of human diseases...
  31. GENETIC BASIS OF DIETARY OBESITY IN MICE
    James M Cheverud; Fiscal Year: 2010
    ..As many QTL showed patterns consistent with genomic imprinting, we will also compare methylation and allele-specific expression in hybrids between our parental strains...
  32. Locus-Specific Imprinting on the Mammalian X Chromosome
    MICHAEL J O'NEILL; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Genomic imprinting is a form of epigenetic gene regulation that leads to one of the two parental copies of a gene being inherited in a transcriptionally silent state...
  33. MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAM
    BRENDAN HL LEE; Fiscal Year: 2013
    ..analysis, molecular cytogenetics including array CGH, biochemical studies of inborn errors of metabolism, genomic imprinting, molecular dysmorphology, cell and gene therapy, developmental biology and gene targeting in the mouse, ..
  34. Epigenetic Regulation of Mitochondiral Complex II
    Gerald S Shadel; Fiscal Year: 2010
    ..This phenomenon is known as genomic imprinting. Genomic imprinting causes differences in the function of genes depending on its parental origin...
  35. A longitudinal study of loss of imprinting in the placenta
    Ronald Wapner; Fiscal Year: 2012
    ..We also have novel evidence to suggest that genomic imprinting patterns are not permanently fixed in placental development...
  36. Investigating CpG islands in mammalian genomes
    Zhongming Zhao; Fiscal Year: 2010
    ..Experiments have shown that methylation of promoter CpG islands plays an important role in gene silencing, genomic imprinting, X-chromosome inactivation, and carcinogenesis...
  37. Do Parental Conflict and Genomic Imprinting Cause Hybrid Lethality in Mimulus?
    Elen Oneal; Fiscal Year: 2011
    ..PUBLIC HEALTH RELEVANCE: Genomic imprinting in mammals and plants represents a spectacular case of convergent evolution due to the shared trait of a ..
  38. The Genetics of Infant Growth and Later Obesity
    Ellen W Demerath; Fiscal Year: 2010
    ....
  39. Pluripotent Stem Cells in Development and Disease
    Gerald Schatten; Fiscal Year: 2010
    ..themes are the molecular foundations of ESC and Embryonic Germ [EG] cell properties of Pluripotency, Genomic Imprinting, and Differentiation, under the directions of Gerald Schatten, PhD (PD; Project I PI), Roger Pedersen, PhD (..
  40. Ethanol Teratogenesis and Genomic Imprinting
    Thomas E Johnson; Fiscal Year: 2010
    ..In this proposal, we will examine genomic imprinting as a mechanism for the effect...
  41. Imprinting studies of a paternally expressed Usp29 gene
    Joomyeong Kim; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Project Summary Genomic imprinting is closely associated with human genetic disorders due to its functional hemizygosity. The Peg3 domain on human chromosome 19q13...
  42. Genetic Dissection of Restricted Repetitive Behavior (RRB)
    Soo Jeong Kim; Fiscal Year: 2012
    ..Mark Lewis, Dan Driscoll, and Ed Cook, who have expertise in RRB/animal models, PWS/genomic imprinting, and autism/molecular genetics, respectively;(2) specific training in assessments of autism, PWS, and RRB;(3)..
  43. POPULATION GENETICS THEORY
    Marcus W Feldman; Fiscal Year: 2010
    ..The final research area will develop multiple-gene models for sex-linked control of genomic imprinting. These will include cis and trans modifiers of imprinting...
  44. Regulation of UBE3A genomic imprinting by tissue-specific alternative splicing
    STORMY JO CHAMBERLAIN; Fiscal Year: 2013
    ..If FOX proteins participate in the repression of the paternal UBE3A allele, this would be a novel mechanism for regulating genomic imprinting, and would warrant further study of FOX proteins as therapeutic targets for Angelman syndrome.
  45. Transgenic models to investigate imprinted gene expression in somatic tissue
    Matthias Stadtfeld; Fiscal Year: 2013
    ..b>Genomic imprinting, the monoallelic expression of a subset of mammalian genes from either the maternally or the paternally ..
  46. MECHANISMS OF GENOMIC IMPRINTING
    PIROSKA E SZABO; Fiscal Year: 2013
    ..Correct global epigenetic remodeling and imprint reseting during embryonic-fetal germ cell development is essential for the health of the next generation and for future generations. ..
  47. MODULATION OF IGF-II IMPRINTING IN THE AGING PROSTATE
    David F Jarrard; Fiscal Year: 2013
    ..b>Genomic imprinting is an epigenetic modification that leads to the differential expression (i.e...
  48. Imprinting defects leading to Angelman and Prader Willi syndromes
    James L Resnick; Fiscal Year: 2013
    ..These results will inform future studies of the causes of AS imprinting defects that arise spontaneously, as a result of a deletion of the AS-IC, or at increased frequency following assisted reproductive technologies. ..
  49. Bayesian Methods for Genome-Wide Interacting QTL Mapping
    Nengjun Yi; Fiscal Year: 2013
    ..Interactions (gene-gene and gene- environment) and genetic mechanisms (e.g., genomic imprinting, X-linked effects, pleiotropy) play an important role in the genetic control of complex diseases...
  50. Regulation of gene silencing by an imprinted non-coding RNA
    NORA I ENGEL; Fiscal Year: 2013
    ..b>Genomic imprinting is a specialized mechanism whereby a gene displays silencing of one parental allele...
  51. Sequence Distribution of Tabacco Carcinogen-DNA Adducts
    Natalia Tretyakova; Fiscal Year: 2007
    ..the human genome is involved in many physiological processes, including gene expression, host defense, genomic imprinting, and X chromosome inactivation...
  52. Imprinting a Connectome: Developmental Circuit Approach to Mental Illness
    Takao K Hensch; Fiscal Year: 2013
    ..We unite recent insights by the PIs regarding the true magnitude of genomic imprinting, which may underlie parent-of-origin effects in a variety of disorders;the identification of specific cell-..
  53. Imprinted genes as risk and early detection markers for breast cancer
    Karin B Michels; Fiscal Year: 2010
    ..Because genomic imprinting is established in gametes, it can be found in most tissues including systemic blood cells...
  54. Dissecting the HLA contribution to Rheumatoid Arthritis
    LINDSEY ANN CRISWELL; Fiscal Year: 2010
    ..It is also evident that additional mechanisms such as genomic imprinting and non-inherited or environmental influences are likely to be involved in susceptibility to complex ..
  55. Genome Wide Analysis of DNA Methylation
    Joseph Ecker; Fiscal Year: 2006
    ..Cytosine DNA methylation controls developmental gene expression in mammals during genomic imprinting and X-chromosome inactivation, and also silences transposons and other repeated DNA sequences...
  56. IDENTIFICATION OF IMPRINTED GENES ON CHROMOSOME 14
    Lisa Shaffer; Fiscal Year: 2001
    ..An abnormal phenotype may result from genes on a chromosome that are subject to genomic imprinting. Genomic imprinting is the molecular mechanism by which there can be differential expression of genes from ..
  57. DME-INTERACTING PROTEIN 1 REGULATES DEMETHYLATOIN AND REPRODUCTION IN ARABIDOPSIS
    Wenyan Xiao; Fiscal Year: 2009
    Cytosine methylation is one of the major mechanisms to silence transposons and retroviruses, control genomic imprinting, and regulate reproduction in both mammals and plants...
  58. ISOLATION OF A SECOND WILMS TUMOR SUPPRESSOR GENE
    Bernard Weissman; Fiscal Year: 2001
    ..In addition, this region of the human genome contains genes subject to inactivation by genomic imprinting. Intriguingly, many Wilms' tumors show a loss of imprinting for genes in 11p15...
  59. MECHANISMS AND CONSEQUENCES OF CHROMOSOMAL ABNORMALITIES
    David Ledbetter; Fiscal Year: 2002
    ..Due to genomic imprinting, paternal deletions produce Prader-Willi syndrome (PWS) and maternal deletions produce the distinct genetic ..
  60. EFFECT OF CLONING IN EPIGENETIC INHERITANCE IN MICE
    Keith Latham; Fiscal Year: 2004
    ..We hypothesize that some forms of epigenetic inheritance, such as genomic imprinting, must be maintained in order for a somatic cell nucleus to support normal development...
  61. MATRIX ATTACHMENT REGIONS IN AN IMPRINTED DOMAIN
    John Greally; Fiscal Year: 2001
    DESCRIPTION (Taken from the applicant's Abstract) We propose to study the mechanism of genomic imprinting, a genetic process of importance in development, hormonal regulation and tumorigenesis...
  62. NOVEL DNA METHYLTRANSFERASES IN DEVELOPMENT AND DISEASE
    Timothy Bestor; Fiscal Year: 2002
    Genomic methylation patterns are required for normal X chromosome inactivation, genomic imprinting, and the repression of parasitic sequence elements. Large reductions in methylation levels are lethal to mammalian embryos...
  63. DE NOVO METHYLTRANSFERASES AND CANCER
    Katia Georgopoulos; Fiscal Year: 2003
    ..DNA methylation plays important roles in regulation of gene expression, suppression of viral infection, genomic imprinting and X chromosome inactivation...
  64. MECHANISM OF GENOMIC IMPRINTING DURING SPERMATOGENESIS
    Thomas Yang; Fiscal Year: 2000
    DESCRIPTION (Adapted from investigator's abstract): Genomic imprinting is the process by which certain genes are marked during gametogenesis to differentially express the parental alleles...
  65. Adverse Pregnancy Outcomes: Genetic/Environmental Causes
    Gerald Schatten; Fiscal Year: 2006
    ..transgenerational transmission of a 'miscarriage gene' that may be an extreme example of deviant genomic imprinting. The implications for fetal outcomes are also of great importance, since in utero development of the fetus, ..
  66. Mutagenesis of the Mammalian Imprinting Process(es)
    Eugene Rinchik; Fiscal Year: 2002
    b>Genomic imprinting describes a process by which a subpopulation of genes are epigenetically marked such that those genes are differentially expressed in the conceptus depending on whether they were inherited from the maternal or paternal ..