The DOI matches its Crossref record; 103 of the 109 references it cites were found in a registry or an index.
Mammalian Genomic Imprinting
Open accessAbstract
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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“Genomic imprinting hypothetically evolved to control the dosage of developmentally important genes and occurs in about 100 mammalian genes.113”
From Pubertal development and regulation (2016) · cites this paper as [113]
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6 of the 109 references couldn’t be matched to a known paper.
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“Speci fi c gRNAs (listed in Supplementary Data 8) were cloned into the pX330-U6-Chimeric_BB-CBh-hSpCas9 plasmid (Addgene #98750) and transiently transfected into mESCs using Mirus TransIT reagent.”
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“Differential DNA methylation at the ICR is established during oogenesis or spermatogenesis, and it plays critical roles in regulating mono-allelic expression of the corresponding imprinted genes in that imprinted region (16, 21, 22).”
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Characteristics of random monoallelic gene expression during embryonic stem cell differentiation
Eckersley-Maslin, M. A. (2014) · Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory)
Metadata
- 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)
- 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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