Research Topics
Genomes and Genes | Anne C Ferguson-SmithSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
Mechanisms regulating imprinted genes in clustersCarol 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...
Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19Shuji Takada
Department of Anatomy, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
Hum Mol Genet 11:77-86. 2002..An intronic DMR contains a conserved putative CTCF-binding domain. All three DMRs have both unique and common features compared to those identified in the Igf2-H19 domain...
Epigenetics and imprinting of the trophoblast -- a workshop reportA C Ferguson-Smith
Department of Anatomy, University of Cambridge, Downing St, Cambridge CB2 3DY, UK
Placenta 27:S122-6. 2006..In addition, epigenetic control of trophoblast development and function were considered. This report summarises the contributions to the workshop...
Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control regionShau Ping Lin
Department of Physiology, Development and Neuroscience, University of Cambridge, Anatomy Building, Downing Street, Cambridge CB2 3DY, UK
Development 134:417-26. 2007..This indicates that the mechanism of action of the IG-DMR is different in the embryo and the placenta and suggests that the epigenetic control of imprinting differs in these two lineages...
You are what your dad ateAnne C Ferguson-Smith
Department of Physiology, Development, and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, 30 Medical Drive, Singapore
Cell Metab 13:115-7. 2011..Determining underlying mechanisms may require reconsideration of our understanding of the heritability of epigenetic states...
Developing essential professional skills: a framework for teaching and learning about feedbackPenny Henderson
Department of Anatomy, University of Cambridge, Downing Street, Cambridge, CB2 3DY, UK
BMC Med Educ 5:11. 2005..The ability to give and receive feedback effectively is a key skill for doctors, aids learning between all levels of the medical hierarchy, and provides a basis for reflective practice and life-long learning. How best to teach this skill?..
Recent acquisition of imprinting at the rodent Sfmbt2 locus correlates with insertion of a large block of miRNAsQianwei Wang
Department of Cell and Systems Biology, University of Toronto, Ontario, Canada
BMC Genomics 12:204. 2011..Imprinted genes generally reside in clusters near elements termed Imprinting Control Regions (ICRs), suggesting that Sfmbt2 might represent an anchor for a new imprinted domain...
X inactivation: pre- or post-fertilisation turn-off?Anne C Ferguson-Smith
Department of Anatomy, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
Curr Biol 14:R323-5. 2004
Genetic imprinting: silencing elements have their sayA C Ferguson-Smith
Department of Anatomy, University of Cambridge, Downing Street, CB2 3DY, Cambridge, UK
Curr Biol 10:R872-5. 2000..These elements further elaborate the differences between the two parental chromosomes, and add a new feature to parent-of-origin-specific gene regulatory complexes...
Genomic imprinting--insights from studies in miceAnne Ferguson-Smith
Department of Anatomy, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
Semin Cell Dev Biol 14:43-9. 2003....
Genomic imprinting: the emergence of an epigenetic paradigmAnne C Ferguson-Smith
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK
Nat Rev Genet 12:565-75. 2011..Setting seminal discoveries in this field alongside recent progress and remaining questions shows how the study of imprinting continues to enhance our understanding of the epigenetic control of genome function in other contexts...
Distinguishing epigenetic marks of developmental and imprinting regulationKirsten R McEwen
Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK
Epigenetics Chromatin 3:2. 2010..This form of analysis is therefore a useful tool to elucidate the complex epigenetic code associated with genome function and to determine the underlying features conferring epigenetic states...
Imprinting and the epigenetic asymmetry between parental genomesA C Ferguson-Smith
Department of Anatomy, University of Cambridge, Downing Street, Cambridge, CB2 3DY, UK
Science 293:1086-9. 2001..Genomic imprinting therefore provides a model system for the analysis of the epigenetic control of genome function...
Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12Shau Ping Lin
Department of Anatomy, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
Nat Genet 35:97-102. 2003..These results prove that the IG-DMR is a control element for all imprinted genes on the maternal chromosome only and indicate that the two parental chromosomes control allele-specific gene expression differently...
Restricted co-expression of Dlk1 and the reciprocally imprinted non-coding RNA, Gtl2: implications for cis-acting controlSimão T da Rocha
Department of Physiology, Development and Neurosciences, University of Cambridge, Downing Street, Cambridge, UK
Dev Biol 306:810-23. 2007....
Epigenetic status of human embryonic stem cellsPeter J Rugg-Gunn
Department of Surgery, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Hills Road, Cambridge, CB2 2XY, UK
Nat Genet 37:585-7. 2005..During prolonged passage, one cell line became biallelic with respect to H19, but without loss of the gametic methylation imprint. These data argue for a substantial degree of epigenetic stability in human embryonic stem cells...
Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryoChen En Tsai
Department of Anatomy, University of Cambridge, Downing Street, United Kingdom
Curr Biol 12:1221-6. 2002..These results demonstrate that disruption of the imprinting status of Dio3 results in abnormal thyroid hormone levels and may contribute to the phenotypic abnormalities in UPD12 mice and UPD14 humans...
Genomic imprinting at the mammalian Dlk1-Dio3 domainSimao Teixeira da Rocha
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK
Trends Genet 24:306-16. 2008..Here, we discuss the function and regulation of imprinting at this domain...
A small family of sushi-class retrotransposon-derived genes in mammals and their relation to genomic imprintingNeil A Youngson
Department of Anatomy, University of Cambridge, Downing St, Cambridge, CB23DY, UK
J Mol Evol 61:481-90. 2005..Nonetheless, the conservation but functional divergence between the different members suggests that they have undergone positive selection and acquired distinct endogenous functions within their mammalian hosts...
The evolution of the DLK1-DIO3 imprinted domain in mammalsCarol A Edwards
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom
PLoS Biol 6:e135. 2008..A recent mammal-specific retrotransposition event led to the formation of a completely new gene only in the eutherian domain, which may have driven imprinting at the cluster...
Postnatal loss of Dlk1 imprinting in stem cells and niche astrocytes regulates neurogenesisSacri R Ferron
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK
Nature 475:381-5. 2011....
Gene dosage effects of the imprinted delta-like homologue 1 (dlk1/pref1) in development: implications for the evolution of imprintingSimao Teixeira da Rocha
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom
PLoS Genet 5:e1000392. 2009..We propose a negative correlation between gene dosage and survival that fixes an upper limit on growth promotion by Dlk1, and we hypothesize that trade-off between growth and lethality might have driven imprinting at this locus...
The evolution of imprinting: chromosomal mapping of orthologues of mammalian imprinted domains in monotreme and marsupial mammalsCarol A Edwards
Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
BMC Evol Biol 7:157. 2007..There are several theories to account for how the mechanism evolved including the hypothesis that it was driven by the evolution of X-inactivation, or that it arose from an ancestrally imprinted chromosome...
Regulation of gene activity and repression: a consideration of unifying themesAnne C Ferguson-Smith
Department of Anatomy, University of Cambridge, England
Curr Top Dev Biol 60:197-213. 2004
Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal lifeMarika Charalambous
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK
Curr Opin Endocrinol Diabetes Obes 14:3-12. 2007..The role of imprinted genes in growth control has been apparent since the discovery of imprinting in the early 1980s...
Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained linesPeter J Rugg-Gunn
Department of Surgery and Cambridge Institute for Medical Research, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 OXY, UK
Hum Mol Genet 16:R243-51. 2007..This examination provides insight into the regulation of genomic imprinting in hESCs and the corresponding peri-implantation stages of human development...
Genomic imprintingSimao Teixeira da Rocha
Department of Anatomy, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK
Curr Biol 14:R646-9. 2004
L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprintingJuan Li
Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Hills Road, Cambridge CB2 2XY, UK
Genomics 86:489-94. 2005..Unlike its human counterpart, L3mbtl escapes imprinting and there is no differential methylation of its CpG island...
Epigenetics: monoallelic expression in the immune systemCristina Rada
MRC Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK
Curr Biol 12:R108-10. 2002..Recent findings further implicate epigenetic modifications in the control of allelic choice in the immune system...
Human embryonic stem cells as a model for studying epigenetic regulation during early developmentPeter J Rugg-Gunn
Department of Surgery, Cambridge Institute for Medical Research, UK
Cell Cycle 4:1323-6. 2005..Furthermore, we propose specific experiments using such a model to address important questions pertaining to epigenetic mechanisms of certain human disorders...
Imprinted gene dosage is critical for the transition to independent lifeMarika Charalambous
Department of Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK
Cell Metab 15:209-21. 2012..This shows that appropriate dosage control at imprinted loci can act as a critical determinant in postnatal survival during phases of physiological adaptation...
Uniparental disomy and human disease: an overviewKazuki Yamazawa
Department of Physiology, Development and Neuroscience, University of Cambridge, UK
Am J Med Genet C Semin Med Genet 154:329-34. 2010....
Status of genomic imprinting in epigenetically distinct pluripotent stem cellsBowen Sun
The Anne McLaren Laboratory for Regenerative Medicine, Department of Surgery, University of Cambridge, Cambridge, United Kingdom
Stem Cells 30:161-8. 2012..Our results also reinforce the view that hESCs and EpiSCs are in vitro counterparts, sharing an epigenetic status distinct from ESCs and iPSCs...
An unbiased assessment of the role of imprinted genes in an intergenerational model of developmental programmingElizabeth J Radford
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom
PLoS Genet 8:e1002605. 2012..We suggest that recently described instances of dosage regulation by relaxation of imprinting are rare and likely to be highly regulated...
The atypical mammalian ligand Delta-like homologue 1 (Dlk1) can regulate Notch signalling in DrosophilaSarah J Bray
Department of Physiology, Development, and Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3DY, UK
BMC Dev Biol 8:11. 2008..Thus it is unclear whether it is able to interact with Notch in vivo. Unlike mammals, Drosophila have a single Notch receptor allowing a simple in vivo assay for mammalian Dlk1 function...
Genomic imprinting as an adaptative model of developmental plasticityElizabeth J Radford
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom
FEBS Lett 585:2059-66. 2011..Imprinted gene dosage can be modulated through canonical, transcription factor mediated mechanisms, or through the relaxation of imprinting itself, reactivating the normally silent allele...
Developmental dynamics of the definitive mouse placenta assessed by stereologyPhilip M Coan
Department of Anatomy, University of Cambridge, Cambridge CB2 3DY, United Kingdom
Biol Reprod 70:1806-13. 2004..39 microm by E18.5. The specific diffusion capacity for oxygen of the interhemal membrane is maximal by E16.5, which may be necessary to support rapid fetal growth until the end of gestation...
Epigenetic reprogramming: is deamination key to active DNA demethylation?Marta Teperek-Tkacz
Wellcome Trust Cancer Research UK Gurdon Institute, Cambridge, CB2 1QN, UK
Reproduction 142:621-32. 2011..These findings are also considered along with alternative demethylation pathways involving hydroxymethylation...
Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14Tsutomu Ogata
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
Epigenetics 3:181-7. 2008....
The need for EedAnne C Ferguson-Smith
Nat Genet 33:433-4. 2003
Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like geneHerve Seitz
LBME, Centre National de la Recherche Scientifique, UMR 5099, IFR 109, Université P Sabatier, 118 route de Narbonne, 31062 Toulouse Cedex, France
Nat Genet 34:261-2. 2003..Here we show that the imprinted mouse distal chromosome 12 locus encodes two miRNA genes expressed from the maternally inherited chromosome and antisense to a retrotransposon-like gene (Rtl1) expressed only from the paternal allele...
Imprinted X inactivation and reprogramming in the preimplantation mouse embryoTakashi Sado
Division of Human Genetics, National Institute of Genetics, Research Organization of Information Systems, Mishima, Japan
Hum Mol Genet 14:R59-64. 2005..Neither the underlying reason nor the full extent of these early lineage specific epigenetic changes is known, but they may be correlated with more genome-wide reprogramming events essential for normal development...
A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domainHerve Seitz
LBME CNRS UMR 5099, IFR 109, Université P Sabatier, 31062 Toulouse, France
Genome Res 14:1741-8. 2004..The functions of these miRNAs, which seem only conserved in mammals, are discussed both in terms of epigenetic control and gene regulation during development...
Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignanciesJuan Li
Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Hills Road, Cambridge CB2 2XY, United Kingdom
Proc Natl Acad Sci U S A 101:7341-6. 2004....
Complementary roles of genes regulated by two paternally methylated imprinted regions on chromosomes 7 and 12 in mouse placentationManabu Kawahara
Department of BioScience and Electron Microscope Centre, Tokyo University of Agriculture, Japan
Hum Mol Genet 15:2869-79. 2006..Our findings demonstrate that the genes controlled by the two paternally methylated regions, H19-DMR and IG-DMR, complementarily organize placentation...
Appropriate expression of imprinted genes on mouse chromosome 12 extends development of bi-maternal embryos to termManabu Kawahara
Department of Bioscience, Tokyo University of Agriculture, Setagaya Ku, Tokyo 156 8502, Japan
FEBS Lett 581:5178-84. 2007..Foetuses derived from ng(Deltach12)/fg BMEs were alive at E19.5 but could not survive further. Comparison with BMEs derived from Igf2+/- ng/fg genomes suggests that bi-allelic H19 expression might be involved in foetal development...
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypesMasayo Kagami
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157 8535, Japan
Nat Genet 40:237-42. 2008....
Epigenetics: perceptive enzymesAnne C Ferguson-Smith
Nature 449:148-9. 2007
High-frequency generation of viable mice from engineered bi-maternal embryosManabu Kawahara
Department of Bioscience, Tokyo University of Agriculture, Setagaya Ku, Tokyo 156 8502, Japan
Nat Biotechnol 25:1045-50. 2007..The results provide conclusive evidence that imprinted genes regulated by these two paternally methylated imprinting-control regions are the only paternal barrier that prevents the normal development of bi-maternal mouse fetuses to term...
Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome regionJerome Cavaille
LBME CNRS UMR5099, Université P Sabatier, 118 route de Narbonne, 31062 Toulouse Cedex, France
Hum Mol Genet 11:1527-38. 2002..This link between tandemly repeated C/D snoRNA genes and genomic imprinting suggests a role for these snoRNAs and/or their host non-coding RNA genes in the evolution and/or mechanism of the epigenetic imprinting process...
High-resolution map and imprinting analysis of the Gtl2-Dnchc1 domain on mouse chromosome 12Sascha Tierling
Genetik Epigenetik, FR 8 3 Biowissenschaften, Universitat des Saarlandes, Postfach 151150, D 66041 Saarbrucken, Germany
Genomics 87:225-35. 2006..Hence, tissue-specific coregulation of maternally expressed genes might be an important feature of this domain...
Developmental biology: the X-inactivation yo-yoWolf Reik
Nature 438:297-8. 2005
Genomic matrix attachment region and chromosome conformation capture quantitative real time PCR assays identify novel putative regulatory elements at the imprinted Dlk1/Gtl2 locusCaroline Braem
Institut de Genetique Moleculaire, UMR 5535 CNRS Université Montpellier II, IFR 122, 1919, route de Mende, 34293 Montpellier Cedex 5, France
J Biol Chem 283:18612-20. 2008..Altogether, our findings shed a new light on gene regulation at this locus...
