Genomic Imprinting

Authors

  • Emirjeta Bajrami University Clinical Centre, Neonatology Clinic, Prishtina, Kosovo
  • Mirko Spiroski Institute of Immunobiology and Human Genetics, Faculty of Medicine, Ss Cyril and Methodius University of Skopje, Skopje

DOI:

https://doi.org/10.3889/oamjms.2016.028

Keywords:

genomic imprinting, epigenetic inheritance, gene, DNA methylation

Abstract

BACKGROUND: Genomic imprinting is the inheritance out of Mendelian borders. Many of inherited diseases and human development violates Mendelian law of inheritance, this way of inheriting is studied by epigenetics.

AIM: The aim of this review is to analyze current opinions and options regarding to this way of inheriting.

RESULTS: Epigenetics shows that gene expression undergoes changes more complex than modifications in the DNA sequence; it includes the environmental influence on the gametes before conception. Humans inherit two alleles from mother and father, both are functional for the majority of the genes, but sometimes one is turned off or “stamped†and doesn’t show in offspring, that gene is imprinted. Imprinting means that that gene is silenced, and gene from other parent is expressed. The mechanisms for imprinting are still incompletely defined, but they involve epigenetic modifications that are erased and then reset during the creation of eggs and sperm. Genomic imprinting is a process of silencing genes through DNA methylation. The repressed allele is methylated, while the active allele is unmethylated. The most well-known conditions include Prader-Willi syndrome, and Angelman syndrome. Both of these syndromes can be caused by imprinting or other errors involving genes on the long arm of chromosome 15.

CONCLUSIONS: Genomic imprinting and other epigenetic mechanisms such as environment is shown that plays role in offspring neurodevelopment and autism spectrum disorder.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

Moresi V, Marroncelli N, Coletti D, Adamo S. Regulation of skeletal muscle development and homeostasis by gene imprinting, histone acetylation and microRNA. Biochim Biophys Acta. 2015;1849 (3):309-16.

http://dx.doi.org/10.1016/j.bbagrm.2015.01.002 DOI: https://doi.org/10.1016/j.bbagrm.2015.01.002

PMid:25598319

Barlow DP, Bartolomei MS. Genomic imprinting in mammals. Cold Spring Harb Perspect Biol. 2014;6(2).

http://dx.doi.org/10.1101/cshperspect.a018382 DOI: https://doi.org/10.1101/cshperspect.a018382

PMid:24492710

Sadakierska-Chudy A, Kostrzewa RM, Filip M. A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. Neurotox Res. 2015;27: 84–97.

http://dx.doi.org/10.1007/s12640-014-9497-5 DOI: https://doi.org/10.1007/s12640-014-9497-5

PMid:25362550 PMCid:PMC4286137

Lawson HA, Cheverud JM, Wolf JB. Genomic imprinting and parent-of-origin effects on complex traits. Nat Rev Genet. 2013;14(9):609-17.

http://dx.doi.org/10.1038/nrg3543 DOI: https://doi.org/10.1038/nrg3543

PMid:23917626 PMCid:PMC3926806

Hoffmann A, Zimmermann CA, Spengler D. Molecular epigenetic switches in neurodevelopment in health and disease. Front Behav Neurosci. 2015;9:120.

http://dx.doi.org/10.3389/fnbeh.2015.00120 DOI: https://doi.org/10.3389/fnbeh.2015.00120

PMid:26029068 PMCid:PMC4429584

Li, et al. Environ Health Perspect. [Cathrine Hoyo] [Randy Jirtle] Press Reports: North Carolina State University, 2015:9584.

Guseva N, Mondal T, Kanduri C. Antisense noncoding RNA promoter regulates the timing of de novo methylation of an imprinting control region. Dev Biol. 2012;361(2):403-11.

http://dx.doi.org/10.1016/j.ydbio.2011.11.005 DOI: https://doi.org/10.1016/j.ydbio.2011.11.005

PMid:22119056

Falls JG, Pulford DJ, Wylie AA, Jirtle RL. Genomic imprinting: implications for human disease. Am J Pathol. 1999;154(3):635-47.

http://dx.doi.org/10.1016/S0002-9440(10)65309-6 DOI: https://doi.org/10.1016/S0002-9440(10)65309-6

Reik W, Constancia M, Dean W, Davies K, Bowden L, Murrell A, Feil R, Walter J, Kelsey G. Igf2 imprinting in development and disease. Int J Dev Biol. 2000;44(1):145-50.

http://dx.doi.org/10.1007/978-3-0348-8484-6_8 DOI: https://doi.org/10.1007/978-3-0348-8484-6_8

Haig D. Genomic imprinting and the theory of parent-offspring conflict. Sem Dev Biol. 1992;3:153–160.

Iwasa Y, Pomiankowski A. The evolution of X-linked genomic imprinting. Genetics. 2001;158: 1801–1809. DOI: https://doi.org/10.1093/genetics/158.4.1801

PMid:11514463 PMCid:PMC1461772

Haig D. Parental antagonism, relatedness asymmetries, and genomic imprinting. Proc Biol Sci. 1997;264:1657–1662.

http://dx.doi.org/10.1098/rspb.1997.0230 DOI: https://doi.org/10.1098/rspb.1997.0230

PMid:9404029 PMCid:PMC1688715

Van Cleve J, Feldman MW. Sex-specific viability, sex linkage and dominance in genomic imprinting. Genetics. 2007;176 (2):1101-18.

http://dx.doi.org/10.1534/genetics.107.071555 DOI: https://doi.org/10.1534/genetics.107.071555

PMid:17435253 PMCid:PMC1894577

Ishida M, Moore GE. The role of imprinted genes in humans. Mol Aspects Med. 2013;34(4):826-40.

http://dx.doi.org/10.1016/j.mam.2012.06.009

PMid:22771538

Reik W, Dean W, Walter J. Epigenetic reprogramming in mammalian development. Science. 2001;293:1089–1093.

http://dx.doi.org/10.1126/science.1063443 DOI: https://doi.org/10.1126/science.1063443

PMid:11498579

Kelsey G, Feil R. New insights into establishment and maintenance of DNA methylation imprints in mammals. Philos Trans R Soc Lond B Biol Sci. 2013;368(1609):20110336.

http://dx.doi.org/10.1098/rstb.2011.0336 DOI: https://doi.org/10.1098/rstb.2011.0336

PMid:23166397 PMCid:PMC3539362

Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet. 2001;2(1): 21-32.

http://dx.doi.org/10.1038/35047554 DOI: https://doi.org/10.1038/35047554

PMid:11253064

Weaver JR, Bartolomei MS. Chromatin regulators of genomic imprinting. Biochim Biophys Acta. 2014;1839 (3):169-77.

http://dx.doi.org/10.1016/j.bbagrm.2013.12.002 DOI: https://doi.org/10.1016/j.bbagrm.2013.12.002

PMid:24345612 PMCid:PMC3951659

Arand J, Wossidlo M, Lepikhov K, Peat JR, Reik W, Walter J. Selective impairment of methylation maintenance is the major cause of DNA methylation reprogramming in the early embryo. Epigenetics Chromatin. 2015;8(1):1.

http://dx.doi.org/10.1186/1756-8935-8-1 DOI: https://doi.org/10.1186/1756-8935-8-1

PMid:25621012 PMCid:PMC4304184

Lewis MW, Brant JO, Kramer JM, Moss JI, Yang TP, Hansen PJ, Williams RS, Resnick JL. Angelman syndrome imprinting center encodes a transcriptional promoter. Proc Natl Acad Sci USA. 2015; 112(22):6871-5.

http://dx.doi.org/10.1073/pnas.1411261111 DOI: https://doi.org/10.1073/pnas.1411261111

PMid:25378697 PMCid:PMC4460480

Relkovic D, Isles AR. Behavioural and cognitive profiles of mouse models for Prader–Willi syndrome. Brain Res Bull. 2013;92:41–48.

http://dx.doi.org/10.1016/j.brainresbull.2011.09.009 DOI: https://doi.org/10.1016/j.brainresbull.2011.09.009

PMid:21971015

McNamara GI, Isles AR. Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness. Biochem Soc Trans. 2013;41 (3):721-6.

http://dx.doi.org/10.1042/BST20130008 DOI: https://doi.org/10.1042/BST20130008

PMid:23697931

Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader–Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001;2:153–175.

http://dx.doi.org/10.1146/annurev.genom.2.1.153 DOI: https://doi.org/10.1146/annurev.genom.2.1.153

PMid:11701647

Cook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997;60:928–934.

PMid:9106540 PMCid:PMC1712464

Ishida M, Moore GE. The role of imprinted genes in humans. Mol Aspects Med. 2013;34(4):826-40.

http://dx.doi.org/10.1016/j.mam.2012.06.009 DOI: https://doi.org/10.1016/j.mam.2012.06.009

PMid:22771538

Piedrahita JA. The role of imprinted genes in fetal growth abnormalities. Birth Defects Res. A Clin Mol Teratol. 2011; 91:682–692.

http://dx.doi.org/10.1002/bdra.20795 DOI: https://doi.org/10.1002/bdra.20795

PMid:21648055 PMCid:PMC3189628

Published

2016-02-04

How to Cite

1.
Bajrami E, Spiroski M. Genomic Imprinting. Open Access Maced J Med Sci [Internet]. 2016 Feb. 4 [cited 2024 Mar. 28];4(1):181-4. Available from: https://oamjms.eu/index.php/mjms/article/view/oamjms.2016.028

Issue

Section

F - Review Articles

Most read articles by the same author(s)

1 2 > >>