Genomes and Genes
- Conference report for the 2nd MC-GARD series on "Interplay among genetics, epigenetics and non-coding RNAs"David Monk
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program, Catalan Institute of Oncology, L Hospitalet de Llobregat, Barcelona, Spain
Epigenetics 3:230-3. 2008..The organizers brought together approximately 120 participants from all over the world to discuss epigenetic mechanisms in relation to normal and disease states, with emphasis on diagnosis, prognosis and therapeutic interventions...
- Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expressionDavid Monk
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
Hum Mol Genet 18:3066-74. 2009..The strong conservation of the opposite allelic expression in placenta versus brain supports the hypothesis that GRB10 imprinting evolved to mediate diverse roles in mammalian growth and behaviour...
- Deciphering the cancer imprintomeDavid Monk
Imprinting and Cancer Group, Epigenetics and Cancer Biology Program, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, 08907, Barcelona, Spain
Brief Funct Genomics 9:329-39. 2010..The recent advances in technology that might facilitate the identification and characterization of the epigenetic profiles of cancer will also be described...
- Human imprinted retrogenes exhibit non-canonical imprint chromatin signatures and reside in non-imprinted host genesDavid Monk
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, 08907, Barcelona, Spain
Nucleic Acids Res 39:4577-86. 2011..Finally, we show that the genes immediately flanking the host genes in mouse and human are biallelically expressed in a range of tissues, suggesting that these loci are distinct from large imprinted clusters...
- Characterization of novel paternal ncRNAs at the Plagl1 locus, including Hymai, predicted to interact with regulators of active chromatinIsabel Iglesias-Platas
Servicio de Neonatologia, Hospital Sant Joan de Deu, Fundació Sant Joan de Déu, Barcelona, Spain
PLoS ONE 7:e38907. 2012..The two ncRNAs could therefore help to protect the paternal allele from DNA methylation by attracting Trithorax proteins that mediate H3 lysine-4 methylation...
- Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencingDavid Monk
Institute of Child Health, London, UK
Genome Res 18:1270-81. 2008..This unexpected general lack of repressive histone modifications suggests that this domain may utilize a different silencing mechanism as compared to other imprinted domains...
- Stability of genomic imprinting and gestational-age dynamic methylation in complicated pregnancies conceived following assisted reproductive technologiesCristina Camprubí
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program, Bellvitge Institute for Biomedical Research, L Hospitalet de Llobregat, Barcelona, Spain
Biol Reprod 89:50. 2013..This study confirms that children conceived by ART do not show variability in imprinted regulation and that loss-of-imprinting is not commonly associated with nonsyndromic IUGR or prematurity. ..
- Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program PEBC, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
Hum Mutat 34:595-602. 2013..This work illustrates that further extensive molecular characterization of these rare patients is required to fully understand the mechanism underlying the etiology of imprint establishment and maintenance...
- The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locusFranck Court
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program PEBC, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, Barcelona 08907, Spain
Epigenetics Chromatin 7:5. 2014....
- The role and interaction of imprinted genes in human fetal growthGudrun E Moore
Genetics and Epigenetics in Health and Diseases Section, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London WC1N 1EH, UK
Philos Trans R Soc Lond B Biol Sci 370:20140074. 2015..In conclusion, we have found that the expression of key imprinted genes show a strong correlation with fetal growth and that for both genetic and genomics data analyses, it is important not to overlook parent-of-origin effects. ..
- Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishmentFranck Court
Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Institut d Investigacio Biomedica de Bellvitge, Hospital Duran i Reynals, 08908 Barcelona, Spain
Genome Res 24:554-69. 2014..Therefore, placental-specific imprinting provides evidence for an inheritable epigenetic state that is independent of DNA methylation and the existence of a novel imprinting mechanism at these loci. ..
- Does genomic imprinting play a role in autoimmunity?Cristina Camprubí
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program PEBC, Bellvitge Institute ofBiomedical Investigation, Barcelona, Spain
Adv Exp Med Biol 711:103-16. 2011..In this chapter, we discuss how parent-of-origin effects and genomic imprinting may play a role in autoimmunity and speculate how imprinted miRNAs may influence the expression of many target autoimmune associated genes...
- Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weightMiho Ishida
Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK
Am J Hum Genet 90:715-9. 2012..Moreover, when the mother was homozygous for RS1, the influence on birth weight was 155 g (p = 0.04; 95% CI = 9-300), which is a similar magnitude to the reduction in birth weight caused by maternal smoking...
- Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted clusterMarta Sánchez Delgado
Imprinting and Cancer Group, Cancer Epigenetics and Biology Program PEBC, Bellvitge Institute for Biomedical Research IDIBELL, L Hospitalet de Llobregat, 08907, Barcelona, Spain
Am J Med Genet B Neuropsychiatr Genet 165:472-8. 2014..Our findings suggest that mutations of KCNK9 or epigenetic disturbances within the PEG13 imprinted cluster do not significantly contribute to the cause of the developmental disabilities tested in this study...
- Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoterAlex Martin-Trujillo
Cancer Epigenetic and Biology Program, Institut d Investigacio Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain
Epigenetics 6:1236-41. 2011..807), when compared to a control population. Our results suggest that the TRPC3 alternative promoter is a methylation quantitative-trait locus that may be involved in modulating the ataxia phenotype...
- STOX1 is not imprinted and is not likely to be involved in preeclampsiaIsabel Iglesias-Platas
Nat Genet 39:279-80; author reply 280-1. 2007
- Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathiesHaiyan Zhou
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital London, United Kingdom
Am J Hum Genet 79:859-68. 2006..Furthermore, our data suggest that imprinting is a likely mechanism for this phenomenon and that similar mechanisms could play a role in human phenotypic heterogeneity...