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Role of DNA methylation in imprinting disorders: an updated review

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Abstract

Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Imprinted genes are typically arranged in clusters controlled by differentially methylated regions or imprinting control regions. Any defect or relaxation in imprinting process can cause loss of imprinting in the key imprinted loci. Loss of imprinting in most cases has a harmful effect on fetal development and can result in neurological, developmental, and metabolic disorders. Since DNA methylation and histone modifications play a key role in the process of imprinting. This review focuses on the role of DNA methylation in imprinting process and describes DNA methylation aberrations in different imprinting disorders.

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Abbreviations

DMRs:

differentially methylated regions

ICR:

imprinting control region

IGF2:

insulin-like growth factor 2

UPD:

uniparental disomy

ER:

epigenetic reprogramming

ART:

assisted reproductive technology

MLID:

multi-locus imprinting disturbances

TNDM:

transient neonatal diabetes mellitus

PWS:

Prader–Willi syndrome

SRS:

Silver–Russell syndrome

PHP1b:

pseudohypoparathyroidism type 1b

AS:

Angelman syndrome

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  1. Department of Clinical Pharmacy, School of Pharmacy, Tanta University, Tanta, 31512, Gharbia, Egypt

    Amr Rafat Elhamamsy

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Elhamamsy, A.R. Role of DNA methylation in imprinting disorders: an updated review. J Assist Reprod Genet 34, 549–562 (2017). https://doi.org/10.1007/s10815-017-0895-5

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