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  1. Article ; Online: Stem cells by the shore: Meeting summary of the 2008 MDI Stem Cell Symposium.

    Epstein, Jonathan A / Niemitz, Emily L

    Epigenetics

    2009  Volume 4, Issue 2, Page(s) 125–126

    MeSH term(s) Animals ; Cellular Reprogramming ; Chromatin/metabolism ; Histones/metabolism ; Humans ; MicroRNAs/physiology ; Pluripotent Stem Cells/cytology ; Polycomb-Group Proteins ; Repressor Proteins/genetics ; Stem Cells/cytology
    Chemical Substances Chromatin ; Histones ; MicroRNAs ; Polycomb-Group Proteins ; Repressor Proteins
    Language English
    Publishing date 2009-03-03
    Publishing country United States
    Document type Congress
    ISSN 1559-2308
    ISSN (online) 1559-2308
    DOI 10.4161/epi.4.2.7735
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Epigenetics and assisted reproductive technology: a call for investigation.

    Niemitz, Emily L / Feinberg, Andrew P

    American journal of human genetics

    2004  Volume 74, Issue 4, Page(s) 599–609

    Abstract: A surprising set of recent observations suggests a link between assisted reproductive technology (ART) and epigenetic errors--that is, errors involving information other than DNA sequence that is heritable during cell division. An apparent association ... ...

    Abstract A surprising set of recent observations suggests a link between assisted reproductive technology (ART) and epigenetic errors--that is, errors involving information other than DNA sequence that is heritable during cell division. An apparent association with ART was found in registries of children with Beckwith-Wiedemann syndrome, Angelman syndrome, and retinoblastoma. Here, we review the epidemiology and molecular biology behind these studies and those of relevant model systems, and we highlight the need for investigation of two major questions: (1) large-scale case-control studies of ART outcomes, including long-term assessment of the incidence of birth defects and cancer, and (2) investigation of the relationship between epigenetic errors in both offspring and parents, the specific methods of ART used, and the underlying infertility diagnoses. In addition, the components of proprietary commercial media used in ART procedures must be fully and publicly disclosed, so that factors such as methionine content can be assessed, given the relationship in animal studies between methionine exposure and epigenetic changes.
    MeSH term(s) Angelman Syndrome/epidemiology ; Angelman Syndrome/genetics ; Animal Husbandry ; Animals ; Beckwith-Wiedemann Syndrome/epidemiology ; Beckwith-Wiedemann Syndrome/genetics ; Case-Control Studies ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/etiology ; Congenital Abnormalities/genetics ; Epigenesis, Genetic/genetics ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/etiology ; Genetic Diseases, Inborn/genetics ; Humans ; Reproductive Techniques, Assisted/adverse effects ; Retinoblastoma/epidemiology ; Retinoblastoma/genetics ; Ruminants/abnormalities ; Ruminants/genetics
    Language English
    Publishing date 2004-02-27
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/382897
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.

    DeBaun, Michael R / Niemitz, Emily L / Feinberg, Andrew P

    American journal of human genetics

    2002  Volume 72, Issue 1, Page(s) 156–160

    Abstract: Recent data in humans and animals suggest that assisted reproductive technology (ART) might affect the epigenetics of early embryogenesis and might cause birth defects. We report the first evidence, to our knowledge, that ART is associated with a human ... ...

    Abstract Recent data in humans and animals suggest that assisted reproductive technology (ART) might affect the epigenetics of early embryogenesis and might cause birth defects. We report the first evidence, to our knowledge, that ART is associated with a human overgrowth syndrome-namely, Beckwith-Wiedemann syndrome (BWS). In a prospective study, the prevalence of ART was 4.6% (3 of 65), versus the background rate of 0.8% in the United States. A total of seven children with BWS were born after ART-five of whom were conceived after intracytoplasmic sperm injection. Molecular studies of six of the children indicate that five of the six have specific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19. We discuss the implications of our finding that ART is associated with human overgrowth, similar to the large offspring syndrome reported in ruminants.
    MeSH term(s) Adult ; Beckwith-Wiedemann Syndrome/etiology ; Beckwith-Wiedemann Syndrome/genetics ; Beckwith-Wiedemann Syndrome/pathology ; Child ; CpG Islands/genetics ; DNA Methylation ; Female ; Fertilization in Vitro/adverse effects ; Genomic Imprinting/genetics ; Humans ; Male ; Membrane Proteins ; Molecular Sequence Data ; Phenotype ; Potassium Channels, Voltage-Gated ; RNA, Long Noncoding ; RNA, Untranslated/genetics
    Chemical Substances H19 long non-coding RNA ; KCNQ1OT1 RNA ; KCNQ1OT1 long non-coding RNA, human ; Membrane Proteins ; Potassium Channels, Voltage-Gated ; RNA, Long Noncoding ; RNA, Untranslated
    Language English
    Publishing date 2002-11-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/346031
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor.

    Niemitz, Emily L / Feinberg, Andrew P / Brandenburg, Sheri A / Grundy, Paul E / DeBaun, Michael R

    American journal of human genetics

    2005  Volume 77, Issue 5, Page(s) 887–891

    Abstract: Idiopathic hemihypertrophy (IH) is a congenital overgrowth syndrome associated with an increased risk of embryonal cancers in childhood. A related developmental disorder is Beckwith-Wiedemann syndrome (BWS), which increases risk for embryonal cancers, ... ...

    Abstract Idiopathic hemihypertrophy (IH) is a congenital overgrowth syndrome associated with an increased risk of embryonal cancers in childhood. A related developmental disorder is Beckwith-Wiedemann syndrome (BWS), which increases risk for embryonal cancers, including Wilms tumor. Constitutional epigenetic alterations associated with BWS have been well characterized and include epigenetic alterations of imprinted genes on 11p15. The frequency of hypermethylation of H19 in children with IH and Wilms tumor, 20% (3/15), was significantly lower than the frequency in children with BWS and Wilms tumor, 79% (11/14; P = .0028). These results indicate that children with IH and Wilms tumor have different constitutional epigenotypes from those of children with BWS and Wilms tumor.
    MeSH term(s) Beckwith-Wiedemann Syndrome/genetics ; Beckwith-Wiedemann Syndrome/pathology ; Child ; Chromosomes, Human, Pair 11 ; DNA Methylation ; Genotype ; Humans ; Wilms Tumor/genetics
    Language English
    Publishing date 2005-10-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/497540
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome.

    Niemitz, Emily L / DeBaun, Michael R / Fallon, Jonathan / Murakami, Kazuhiro / Kugoh, Hiroyuki / Oshimura, Mitsuo / Feinberg, Andrew P

    American journal of human genetics

    2004  Volume 75, Issue 5, Page(s) 844–849

    Abstract: Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes ... ...

    Abstract Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes are heterogeneous, involving multiple genes on 11p15 and including infrequent mutation of p57(KIP2) or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57(KIP2), or H19/IGF2. Unlike Prader-Willi and Angelman syndromes, no chromosomal deletions have yet been identified. Here we report a microdeletion including the entire LIT1 gene, providing genetic confirmation of the importance of this gene region in BWS. When inherited maternally, the deletion causes BWS with silencing of p57(KIP2), indicating deletion of an element important for the regulation of p57(KIP2) expression. When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans.
    MeSH term(s) Beckwith-Wiedemann Syndrome/genetics ; Chromosomes, Human, Pair 11/genetics ; Cyclin-Dependent Kinase Inhibitor p57 ; DNA Primers ; Gene Deletion ; Gene Expression ; Haplotypes/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Membrane Proteins/genetics ; Nuclear Proteins ; Potassium Channels, Voltage-Gated/genetics ; Reverse Transcriptase Polymerase Chain Reaction
    Chemical Substances CDKN1C protein, human ; Cyclin-Dependent Kinase Inhibitor p57 ; DNA Primers ; KCNQ1OT1 long non-coding RNA, human ; Membrane Proteins ; Nuclear Proteins ; Potassium Channels, Voltage-Gated
    Language English
    Publishing date 2004-09-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/425343
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.

    DeBaun, Michael R / Niemitz, Emily L / McNeil, D Elizabeth / Brandenburg, Sheri A / Lee, Maxwell P / Feinberg, Andrew P

    American journal of human genetics

    2002  Volume 70, Issue 3, Page(s) 604–611

    Abstract: Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects. The most common constitutional abnormalities in BWS ...

    Abstract Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects. The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15. We hypothesized that different epigenetic alterations would be associated with specific phenotypes in BWS. To test this hypothesis, we performed a case-cohort study, using the BWS Registry. The cohort consisted of 92 patients with BWS and molecular analysis of both H19 and LIT1, and these patients showed the same frequency of clinical phenotypes as those patients in the Registry from whom biological samples were not available. The frequency of altered DNA methylation of H19 in patients with cancer was significantly higher, 56% (9/16), than the frequency in patients without cancer, 17% (13/76; P=.002), and cancer was not associated with LIT1 alterations. Furthermore, the frequency of altered DNA methylation of LIT1 in patients with midline abdominal-wall defects and macrosomia was significantly higher, 65% (41/63) and 60% (46/77), respectively, than in patients without such defects, 34% (10/29) and 18% (2/11), respectively (P=.012 and P=.02, respectively). Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with hemihypertrophy (P=.003), cancer (P=.03), and hypoglycemia (P=.05). These results define an epigenotype-phenotype relationship in BWS, in which aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specific birth defects.
    MeSH term(s) Abdomen/abnormalities ; Beckwith-Wiedemann Syndrome/complications ; Beckwith-Wiedemann Syndrome/genetics ; Beckwith-Wiedemann Syndrome/pathology ; Chromosomes, Human, Pair 11/genetics ; Cohort Studies ; DNA Methylation ; Female ; Fetal Macrosomia/genetics ; Gene Frequency ; Genetic Predisposition to Disease ; Genomic Imprinting ; Humans ; Hypertrophy/complications ; Hypertrophy/genetics ; Hypoglycemia/complications ; Hypoglycemia/genetics ; Male ; Membrane Proteins ; Molecular Sequence Data ; Neoplasms/complications ; Neoplasms/genetics ; Phenotype ; Potassium Channels, Voltage-Gated ; RNA, Long Noncoding ; RNA, Untranslated/genetics ; Registries ; Uniparental Disomy/genetics
    Chemical Substances H19 long non-coding RNA ; KCNQ1OT1 RNA ; KCNQ1OT1 long non-coding RNA, human ; Membrane Proteins ; Potassium Channels, Voltage-Gated ; RNA, Long Noncoding ; RNA, Untranslated
    Language English
    Publishing date 2002-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1086/338934
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma.

    Loukinov, Dmitri I / Pugacheva, Elena / Vatolin, Sergei / Pack, Svetlana D / Moon, Hanlim / Chernukhin, Igor / Mannan, Poonam / Larsson, Erik / Kanduri, Chandrasekhar / Vostrov, Alexander A / Cui, Hengmi / Niemitz, Emily L / Rasko, John E J / Docquier, France M / Kistler, Malathi / Breen, Joseph J / Zhuang, Zhengping / Quitschke, Wolfgang W / Renkawitz, Rainer /
    Klenova, Elena M / Feinberg, Andrew P / Ohlsson, Rolf / Morse, Herbert C / Lobanenkov, Victor V

    Proceedings of the National Academy of Sciences of the United States of America

    2002  Volume 99, Issue 10, Page(s) 6806–6811

    Abstract: CTCF, a conserved, ubiquitous, and highly versatile 11-zinc-finger factor involved in various aspects of gene regulation, forms methylation-sensitive insulators that regulate X chromosome inactivation and expression of imprinted genes. We document here ... ...

    Abstract CTCF, a conserved, ubiquitous, and highly versatile 11-zinc-finger factor involved in various aspects of gene regulation, forms methylation-sensitive insulators that regulate X chromosome inactivation and expression of imprinted genes. We document here the existence of a paralogous gene with the same exons encoding the 11-zinc-finger domain as mammalian CTCF genes and thus the same DNA-binding potential, but with distinct amino and carboxy termini. We named this gene BORIS for Brother of the Regulator of Imprinted Sites. BORIS is present only in the testis, and expressed in a mutually exclusive manner with CTCF during male germ cell development. We show here that erasure of methylation marks during male germ-line development is associated with dramatic up-regulation of BORIS and down-regulation of CTCF expression. Because BORIS bears the same DNA-binding domain that CTCF employs for recognition of methylation marks in soma, BORIS is a candidate protein for the elusive epigenetic reprogramming factor acting in the male germ line.
    MeSH term(s) Amino Acid Sequence ; Animals ; CCCTC-Binding Factor ; Cloning, Molecular ; DNA Methylation ; DNA-Binding Proteins/genetics ; Gene Expression ; Genetic Markers ; Genomic Imprinting ; Humans ; Male ; Mice ; Molecular Sequence Data ; Protein Structure, Tertiary ; Repressor Proteins ; Sequence Homology, Amino Acid ; Testis/metabolism ; Transcription Factors/genetics ; Zinc Fingers
    Chemical Substances CCCTC-Binding Factor ; CTCF protein, human ; CTCFL protein, human ; Ctcf protein, mouse ; Ctcfl protein, mouse ; DNA-Binding Proteins ; Genetic Markers ; Repressor Proteins ; Transcription Factors
    Language English
    Publishing date 2002-05-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.092123699
    Database MEDical Literature Analysis and Retrieval System OnLINE

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