The Role of Genomic Imprinting in Biology and Disease: an Expanding View

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2014 Jun 25

PMID 24958438

Citations 202

Authors

Jo Peters

Affiliations

Soon will be listed here.

Abstract

Genomic imprinting is an epigenetic phenomenon that results in monoallelic gene expression according to parental origin. It has long been established that imprinted genes have major effects on development and placental biology before birth. More recently, it has become evident that imprinted genes also have important roles after birth. In this Review, I bring together studies of the effects of imprinted genes from the prenatal period onwards. Recent work on postnatal stages shows that imprinted genes influence an extraordinarily wide-ranging array of biological processes, the effects of which extend into adulthood, and play important parts in common diseases that range from obesity to psychiatric disorders.

Citing Articles

Generation of live mice from haploid ESCs with germline-DMR deletions or switch.

Ma Y, Yan M, Xie Z, Zhang H, Li Z, Li Y Cell Discov. 2025; 11(1):5.

PMID: 39833184 PMC: 11747502. DOI: 10.1038/s41421-024-00757-x.

Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.

Hassan S, Ashraf N, Hanif K, Khan N Mol Biol Rep. 2025; 52(1):108.

PMID: 39775990 DOI: 10.1007/s11033-025-10220-z.

Regulation of de novo and maintenance DNA methylation by DNA methyltransferases in postimplantation embryos.

Xu Z, Shi J, Chen Q, Yang S, Wang Z, Xiao B J Biol Chem. 2024; 301(1):107990.

PMID: 39542247 PMC: 11742614. DOI: 10.1016/j.jbc.2024.107990.

PRKACB is a novel imprinted gene in marsupials.

Newman T, Bond D, Ishihara T, Rizzoli P, Gouil Q, Hore T Epigenetics Chromatin. 2024; 17(1):29.

PMID: 39342354 PMC: 11438212. DOI: 10.1186/s13072-024-00552-8.

Differential methylation patterns in paternally imprinted gene promoter regions in sperm from hepatitis B virus infected individuals.

Wu B, Sheng Y, Yu W, Ruan L, Geng H, Xu C BMC Mol Cell Biol. 2024; 25(1):19.

PMID: 39090552 PMC: 11295637. DOI: 10.1186/s12860-024-00515-7.

References

Kelsey G . Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus. Am J Med Genet C Semin Med Genet. 2010; 154C(3):377-86. DOI: 10.1002/ajmg.c.30271. View

Jones B, Levorse J, Tilghman S . Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity. Hum Mol Genet. 2001; 10(8):807-14. DOI: 10.1093/hmg/10.8.807. View

Nunn N, Feetham C, Martin J, Barrett-Jolley R, Plagge A . Elevated blood pressure, heart rate and body temperature in mice lacking the XLαs protein of the Gnas locus is due to increased sympathetic tone. Exp Physiol. 2013; 98(10):1432-45. PMC: 4223506. DOI: 10.1113/expphysiol.2013.073064. View

Jonker J, Wagenaar E, Van Eijl S, Schinkel A . Deficiency in the organic cation transporters 1 and 2 (Oct1/Oct2 [Slc22a1/Slc22a2]) in mice abolishes renal secretion of organic cations. Mol Cell Biol. 2003; 23(21):7902-8. PMC: 207626. DOI: 10.1128/MCB.23.21.7902-7908.2003. View

Barlow D, Stoger R, Herrmann B, Saito K, Schweifer N . The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature. 1991; 349(6304):84-7. DOI: 10.1038/349084a0. View

Weinstein L, Xie T, Qasem A, Wang J, Chen M . The role of GNAS and other imprinted genes in the development of obesity. Int J Obes (Lond). 2009; 34(1):6-17. PMC: 2931809. DOI: 10.1038/ijo.2009.222. View

Krauchi K, Deboer T . The interrelationship between sleep regulation and thermoregulation. Front Biosci (Landmark Ed). 2009; 15(2):604-25. DOI: 10.2741/3636. View

Nagano T, Mitchell J, Sanz L, Pauler F, Ferguson-Smith A, Feil R . The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin. Science. 2008; 322(5908):1717-20. DOI: 10.1126/science.1163802. View

Yu S, Gavrilova O, Chen H, Lee R, Liu J, Pacak K . Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism. J Clin Invest. 2000; 105(5):615-23. PMC: 289181. DOI: 10.1172/JCI8437. View

10.

Chen M, Wang J, Dickerson K, Kelleher J, Xie T, Gupta D . Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab. 2009; 9(6):548-55. PMC: 2698878. DOI: 10.1016/j.cmet.2009.05.004. View

11.

Ubeda F, Gardner A . A model for genomic imprinting in the social brain: juveniles. Evolution. 2010; 64(9):2587-600. DOI: 10.1111/j.1558-5646.2010.01015.x. View

12.

Font de Mora J, Esteban L, Burks D, Nunez A, Garces C, Garcia-Barrado M . Ras-GRF1 signaling is required for normal beta-cell development and glucose homeostasis. EMBO J. 2003; 22(12):3039-49. PMC: 162132. DOI: 10.1093/emboj/cdg280. View

13.

Xie W, Barr C, Kim A, Yue F, Lee A, Eubanks J . Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome. Cell. 2012; 148(4):816-31. PMC: 3343639. DOI: 10.1016/j.cell.2011.12.035. View

14.

Nakatani J, Tamada K, Hatanaka F, Ise S, Ohta H, Inoue K . Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell. 2009; 137(7):1235-46. PMC: 3710970. DOI: 10.1016/j.cell.2009.04.024. View

15.

Medina M, Molina J, Gadea Y, Fachado A, Murillo M, Simovic G . The thyroid hormone-inactivating type III deiodinase is expressed in mouse and human beta-cells and its targeted inactivation impairs insulin secretion. Endocrinology. 2011; 152(10):3717-27. PMC: 3176649. DOI: 10.1210/en.2011-1210. View

16.

Howell J, Manning B . mTOR couples cellular nutrient sensing to organismal metabolic homeostasis. Trends Endocrinol Metab. 2011; 22(3):94-102. PMC: 3744367. DOI: 10.1016/j.tem.2010.12.003. View

17.

Williamson C, Beechey C, Papworth D, Wroe S, Wells C, Cobb L . Imprinting of distal mouse chromosome 2 is associated with phenotypic anomalies in utero. Genet Res. 1999; 72(3):255-65. DOI: 10.1017/s0016672398003528. View

18.

Fan W, Dinulescu D, Butler A, Zhou J, Marks D, Cone R . The central melanocortin system can directly regulate serum insulin levels. Endocrinology. 2000; 141(9):3072-9. DOI: 10.1210/endo.141.9.7665. View

19.

Bastepe M . Relative functions of Gαs and its extra-large variant XLαs in the endocrine system. Horm Metab Res. 2012; 44(10):732-40. DOI: 10.1055/s-0032-1316331. View

20.

Zacharek S, Fillmore C, Lau A, Gludish D, Chou A, Ho J . Lung stem cell self-renewal relies on BMI1-dependent control of expression at imprinted loci. Cell Stem Cell. 2011; 9(3):272-81. PMC: 3167236. DOI: 10.1016/j.stem.2011.07.007. View