DNA methylation in genomic imprinting, development, and disease

DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development

1999 • 5,748 citations

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands.

1996 • 5,667 citations

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1999 • 4,776 citations

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1998 • 2,686 citations

DNA Methylation and Gene Function

1980 • 2,069 citations

The DNA methyltransferases of mammals

2000 • 1,981 citations

Cytosine methylation and the ecology of intragenomic parasites

1997 • 1,906 citations

Parental imprinting of the mouse insulin-like growth factor II gene

1991 • 1,773 citations

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

2000 • 1,706 citations

Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma.

1994 • 1,542 citations

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

2000 • 1,493 citations

Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

1984 • 1,402 citations

Identification and Characterization of a Family of Mammalian Methyl-CpG Binding Proteins

1998 • 1,317 citations

Demethylation of the zygotic paternal genome

2000 • 1,292 citations

Parental imprinting of the mouse H19 gene

1991 • 1,192 citations

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

1999 • 1,168 citations

Temporal and regional changes in DNA methylation in the embryonic, extraembryonic and germ cell lineages during mouse embryo development

1987 • 1,088 citations

DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci

2000 • 1,024 citations

Number of CpG islands and genes in human and mouse.

1993 • 986 citations

Active demethylation of the paternal genome in the mouse zygote

2000 • 964 citations

DNA methyltransferase Dnmt1 associates with histone deacetylase activity

2000 • 960 citations

Aberrant methylation of p16 ^INK4a is an early event in lung cancer and a potential biomarker for early diagnosis

1998 • 953 citations

DNA hypomethylation leads to elevated mutation rates

1998 • 935 citations

Detection of aberrant promoter hypermethylation of tumor suppressor genes in serum DNA from non-small cell lung cancer patients.

1999 • 920 citations

CpG islands as gene markers in the human genome

1992 • 908 citations

Human DNA-(Cytosine-5) Methyltransferase-PCNA Complex as a Target for p21 ^WAF1

1997 • 895 citations

Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells

1988 • 891 citations

Growing Y-junction carbon nanotubes

1999 • 815 citations

Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation

1999 • 806 citations

De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells

1996 • 784 citations

Disruption of imprinting caused by deletion of the H19 gene region in mice

1995 • 765 citations

Effects of DNA methylation on DNA-binding proteins and gene expression

1993 • 732 citations

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

1999 • 714 citations

Methylation of the 5' CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing.

1995 • 713 citations

Role of paternal and maternal genomes in mouse development

1984 • 704 citations

Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs

1989 • 655 citations

The DNA methylation paradox

1999 • 642 citations

Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2

1998 • 641 citations

Imprinted expression of the Igf2r gene depends on an intronic CpG island

1997 • 578 citations

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

2000 • 494 citations

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

1991 • 467 citations

Imprinting in Prader–Willi and Angelman syndromes

1998 • 451 citations

Differential H4 acetylation of paternal and maternal chromatin precedes DNA replication and differential transcriptional activity in pronuclei of 1-cell mouse embryos

1997 • 421 citations

A paternal–specific methylation imprint marks the alleles of the mouse H19 gene

1995 • 410 citations

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome

1999 • 405 citations

An enhancer deletion affects both H19 and Igf2 expression.

1995 • 398 citations

Allele-specific replication timing of imprinted gene regions

1993 • 385 citations

DNA methylation and imprinting: why bother?

1997 • 370 citations

DNA methylation and cancer

2000 • 366 citations

Genomic Imprinting: Implications for Human Disease

1999 • 363 citations

Loss of imprinting of a paternally expressed transcript, with antisense orientation to K _V LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1999 • 360 citations

The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model.

1990 • 358 citations

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements

1997 • 354 citations

DNA Methylation Specifies Chromosomal Localization of MeCP2

1996 • 343 citations

Mechanisms leading to uniparental disomy and their clinical consequences

2000 • 332 citations

Embryological and molecular investigations of parental imprinting on mouse chromosome 7

1991 • 314 citations

MECP2 mutations account for most cases of typical forms of Rett syndrome

2000 • 296 citations

The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1

2000 • 280 citations

Differences in DNA methylation during oogenesis and spermatogenesis and their persistence during early embryogenesis in the mouse.

1987 • 278 citations

Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes

1994 • 277 citations

Germ-line passage is required for establishment of methylation and expression patterns of imprinted but not of nonimprinted genes.

1996 • 271 citations

Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting.

1995 • 263 citations

A catalogue of imprinted genes and parent-of-origin effects in humans and animals

1998 • 259 citations

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

1996 • 257 citations

Active Repression of Methylated Genes by the Chromosomal Protein MBD1

2000 • 254 citations

Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2

1997 • 248 citations

Multiple Mechanisms Regulate Imprinting of the Mouse Distal Chromosome 7 Gene Cluster

1998 • 245 citations

Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element.

1997 • 243 citations

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1997 • 237 citations

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

1999 • 229 citations

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse

1996 • 227 citations

Acquisition of theH19Methylation Imprint Occurs Differentially on the Parental Alleles during Spermatogenesis

1999 • 225 citations

A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

1999 • 225 citations

Delta-like and Gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12

2000 • 220 citations

The role of DNA methylation in expression of the p19/p16 locus in human bladder cancer cell lines.

1998 • 207 citations

Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19

2000 • 203 citations

DNA methylation inhibits elongation but not initiation of transcription in Neurospora crassa

1997 • 202 citations

Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

1994 • 195 citations

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

2000 • 178 citations

De novo nucleosome assembly: new pieces in an old puzzle

2000 • 176 citations

DNA Methylation Inhibitors in the Treatment of Leukemias, Myelodysplastic Syndromes and Hemoglobinopathies: Clinical Results and Possible Mechanisms of Action

2000 • 173 citations

Inhibition of tumorigenesis by a cytosine–DNA, methyltransferase, antisense oligodeoxynucleotide

1997 • 171 citations

Asynchronous replication of imprinted genes is established in the gametes and maintained during development

1999 • 170 citations

An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus

2000 • 160 citations

A transcriptional insulator at the imprinted H19/Igf2 locus

2000 • 150 citations

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

2000 • 149 citations

Temporal and spatial regulation of H19 imprinting in normal and uniparental mouse embryos

1995 • 147 citations

H19 and Igf2 monoallelic expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19

2000 • 139 citations

Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse

2000 • 128 citations

Imprinting in Angelman and Prader-Willi syndromes

1998 • 127 citations

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

1996 • 127 citations

The imprinting box of the mouse Igf2r gene

1999 • 121 citations

DNA Methylation Differences Associated with Tumor Tissues Identified by Genome Scanning Analysis

1998 • 112 citations

An imprinting element from the mouse H19 locus functions as a silencer in Drosophila

1997 • 106 citations

The paternal allele of the H19 gene is progressively silenced during early mouse development: the acetylation status of histones may be involved in the generation of variegated expression patterns

1998 • 101 citations

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

1999 • 96 citations

Deletion of a silencer element disrupts H19 imprinting independently of a DNA methylation epigenetic switch

2000 • 95 citations

Histone H1 Is Dispensable for Methylation-Associated Gene Silencing in Ascobolus immersusand Essential for Long Life Span

2000 • 91 citations

Relationship between DNA methylation, histone H4 acetylation and gene expression in the mouse imprinted Igf2‐H19 domain

2001 • 90 citations

PAX6 methylation and ectopic expression in human tumor cells

2000 • 89 citations

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

1999 • 89 citations

Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome

2000 • 83 citations

A 5′ Differentially Methylated Sequence and the 3′-Flanking Region Are Necessary for H19 Transgene Imprinting

1997 • 77 citations

Two Novel Genes in the Center of the 11p15 Imprinted Domain Escape Genomic Imprinting

1999 • 74 citations

Decreased methylation of the major mouse long interspersed repeated DNA during aging and in myeloma cells

1986 • 71 citations

A 1-Mb Physical Map and PAC Contig of the Imprinted Domain in 11p15.5 That Contains TAPA1 and the BWSCR1/WT2 Region

1997 • 66 citations

Increased IGF-II protein affectsp57^kip2expressionin vivoandin vitro: Implications for Beckwith–Wiedemann syndrome

2000 • 64 citations

Histone H1-mediated inhibition of transcription initiation of methylated templates in vitro.

1993 • 61 citations

The Role of Histone Acetylation in the Allelic Expression of the Imprinted Human Insulin-like Growth Factor II Gene

1998 • 57 citations

Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest

2000 • 56 citations

In vivo Nuclease Hypersensitivity Studies Reveal Multiple Sites of Parental Origin-Dependent Differential Chromatin Conformation in the 150 Kb SNRPN Transcription Unit

1999 • 56 citations

A skeletal muscle-specific mouse Igf2 repressor lies 40 kb downstream of the gene

2000 • 54 citations

Role of a 461-bp G-rich repetitive element in H19 transgene imprinting

1999 • 51 citations

Methylation at CpG Sequences Does Not Influence Histone H1 Binding to a Nucleosome Including a Xenopus borealis 5 S rRNA Gene

1995 • 48 citations

Binding of Histone H1 to DNA Is Indifferent to Methylation at CpG Sequences

1995 • 46 citations

Genomic imprinting and Wilms' tumor

1996 • 46 citations

Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome

2000 • 46 citations

A silencer element identified in Drosophila is required for imprinting of H19 reporter transgenes in mice

1999 • 44 citations

The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns

1998 • 41 citations

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenicDrosophila

1998 • 38 citations

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects

1998 • 29 citations

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

1998 • 16 citations

Relaxation of imprinting in Prader-Willi syndrome

1998 • 15 citations

Alterations of H19 Imprinting and IGF2 Replication Timing Are Infrequent in Beckwith–Wiedemann Syndrome

2000 • 13 citations