title: Genes, assisted reproductive technology and trans-illumination.
abstract: Genomic imprinting is a parent-of-origin allele-specific epigenetic process that is critical for normal development and health. The establishment and maintenance of normal imprinting is dependent on both cis-acting imprinting control centers, which are marked by differentially (parental allele specific) methylated marks, and trans mechanisms, which regulate the establishment and/or maintenance of the correct methylation epigenotype at the imprinting control centers. Studies of rare human imprinting disorders such as familial hydatidiform mole, Beckwith-Wiedemann syndrome and familial transient neonatal diabetes mellitus have enabled the identification of genetic (e.g., mutations in KHDC3L [C6ORF221], NLRP2 [NALP2], NLRP7 [NALP7] and ZFP57) and environmental (assisted reproductive technologies) factors that can disturb the normal trans mechanisms for imprinting establishment and/or maintenance. Here we review the clinical and molecular aspects of these imprinting disorders in order to demonstrate how the study of rare inherited disorders can illuminate the molecular characteristics of fundamental epigenetic processes, such as genomic imprinting.
authors.affiliation: Centre for Rare Diseases & Personalised Medicine, School of Clinical & Experimental Medicine, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
authors.forename: Renuka P
authors.initials: RP
authors.lastname: Dias
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D051017:Apoptosis Regulatory Proteins; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D011247:Pregnancy; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D027724:Reproductive Techniques, Assisted; D056730:Silver-Russell Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; C568062:KHDC3L protein, human; C495732:NLRP2 protein, human; C502448:NLRP7 protein, human; D011506:Proteins