PreprintCited by 518Genetic Syndromes and ImprintingEpigenetics and DNA MethylationGenomics and Chromatin Dynamics

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Mammalian Genomic Imprinting

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Bartolomei, M. S., Ferguson-Smith, A. C.·2011·Cold Spring Harbor Perspectives in Biology

DOI 10.1101/cshperspect.a002592PMC PMC3119911

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Abstract

Normal mammalian development requires a maternal and paternal contribution, which is attributed to imprinted genes, or genes that are expressed from a single parental allele. Approximately 100 imprinted genes have been reported in mammals thus far. Imprinted genes are controlled by cis-acting regulatory elements, termed imprinting control regions (ICRs), which have parental-specific epigenetic modifications, including DNA methylation. ICRs are methylated by de novo DNA methyltransferases during germline development; these parental-specific modifications must be maintained following fertilization when the genome is extensively reprogrammed. Many imprinted genes reside in ∼1-megabase clusters, with two major mechanisms of imprinting regulation currently recognized, CTCF-dependent insulators and long noncoding RNAs. Unclustered imprinted genes are generally regulated by germline-derived differential promoter methylation. Here, we describe the identification and functions of imprinted genes, cis-acting control sequences, trans-acting factors, and imprinting mechanisms in clusters. Finally, we define questions that require more extensive research.

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Åbrink, M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.041616998 · Cited by 90
Maintenance of Paternal Methylation and Repression of the Imprinted H19 Gene Requires MBD3
Reese, K. J., Lin, S., Verona, R. I., Schultz, R. M., & Bartolomei, M. S. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030137 · Cited by 89
The Notch Signaling Pathway Controls the Size of the Ocular Lens by Directly Suppressing p57Kip2 Expression
Jia, J., Lin, M., Zhang, L., York, J. P., & Zhang, P. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00780-07 · Cited by 85
Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies
Li, J., Bench, A. J., Vassiliou, G. S., Fourouclas, N., Ferguson‐Smith, A. C., & Green, A. R. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308195101 · Cited by 77
DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation
Cirio, M. C., Martel, J., Mann, M. R. W., Toppings, M., Bartolomei, M. S., Trasler, J. M., & Chaillet, J. R. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.09.015 · Cited by 67
Three-dimensional conformation at the H19/Igf2 locus supports a model of enhancer tracking
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Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14
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Genomic imprinting: A balance between antagonistic roles of parental chromosomes
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Sorted by citations

Genomic Imprinting in MammalsPreprint
Barlow, D. P., & Bartolomei, M. S. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a018382 · Cited by 752
“To date, many more maternally than paternally methylated gametic DMRs have been identified (Bartolomei and Ferguson-Smith 2011).”
Background
X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease
Lee, J. T., & Bartolomei, M. S. (2013) · Cell · doi:10.1016/j.cell.2013.02.016 · Cited by 674
“Most ICRs are methylated in the female germline during oocyte growth (Bartolomei and Ferguson-Smith, 2011).”
Background
Phenotypic impact of genomic structural variation: insights from and for human disease
Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3373 · Cited by 674
Pubertal development and regulation
Abreu, A. P., & Kaiser, U. B. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(15)00418-0 · Cited by 611
Long non-coding RNAs: spatial amplifiers that control nuclear structure and gene expression
Engreitz, J., Ollikainen, N., & Guttman, M. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.126 · Cited by 595

See all 518

Authors: Bartolomei, M. S., & Ferguson-Smith, A. C.
Affiliations: University of Pennsylvania (US)
ORCID: Bartolomei, M. S.
Venue: Cold Spring Harbor Perspectives in Biology
Publisher: Cold Spring Harbor Laboratory
Published: 2011-05-16
Volume: 3
Issue: 7
Pages: a002592-a002592
ISSN: 1943-0264 (ISSN-L)
DOI: 10.1101/cshperspect.a002592
PMC: PMC3119911
OpenAlex: W2129246334
Cited by: 518
References: 109
Citations by year: 2026: 14 · 2025: 17 · 2024: 23 · 2023: 21 · 2022: 22 · 2021: 34 · 2020: 32 · 2019: 47 · 2018: 42 · 2017: 44 · 2016: 47 · 2015: 44 · 2014: 36 · 2013: 49 · 2012: 41
Type: posted content
Language: en
Open access: green
europepmc.org
Locations: Cold Spring Harbor Perspectives in Biology (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Wellcome Trust
U.S. Public Health Service
Medical Research Council
Biotechnology and Biological Sciences Research Council
National Institute of General Medical Sciences (GM-51279, R01GM051279, R37GM051279)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD42026, R01HD042026)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords: genomic imprinting, imprinted genes, imprinting control regions, DNA methylation, cis-regulatory elements, long non-coding RNA, imprinted gene clusters, germ cell development, trans-acting factors
MeSH terms: Animals, Female, Humans, Male, Mammals, Models, Genetic, Genomic Imprinting, Gene Expression Regulation, Developmental, DNA Methylation, RNA, Untranslated, Genetic Diseases, Inborn, Mice

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