Literature DB >> 28281142

Role of DNA methylation in imprinting disorders: an updated review.

Amr Rafat Elhamamsy1.   

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.

Entities:  

Keywords:  Beckwith–Wiedemann syndrome; DNA methylation; Genomic imprinting; Prader–Willi syndrome; Silver–Russell syndrome; Type Ib pseudohypoparathyroidism

Mesh:

Year:  2017        PMID: 28281142      PMCID: PMC5427654          DOI: 10.1007/s10815-017-0895-5

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  159 in total

Review 1.  Epigenetic reprogramming in mammals.

Authors:  Hugh D Morgan; Fátima Santos; Kelly Green; Wendy Dean; Wolf Reik
Journal:  Hum Mol Genet       Date:  2005-04-15       Impact factor: 6.150

Review 2.  Kcnq1ot1: a chromatin regulatory RNA.

Authors:  Chandrasekhar Kanduri
Journal:  Semin Cell Dev Biol       Date:  2011-02-21       Impact factor: 7.727

Review 3.  Epigenetic dynamics during preimplantation development.

Authors:  Chelsea Marcho; Wei Cui; Jesse Mager
Journal:  Reproduction       Date:  2015-06-01       Impact factor: 3.906

4.  Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance.

Authors:  F Brioude; A Lacoste; I Netchine; M-P Vazquez; F Auber; G Audry; M Gauthier-Villars; L Brugieres; C Gicquel; Y Le Bouc; S Rossignol
Journal:  Horm Res Paediatr       Date:  2013-12-04       Impact factor: 2.852

5.  Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

Authors:  Murat Bastepe; Ozge Altug-Teber; Chhavi Agarwal; Sharon E Oberfield; Michael Bonin; Harald Jüppner
Journal:  Bone       Date:  2010-10-19       Impact factor: 4.398

Review 6.  Genomic imprinting: the emergence of an epigenetic paradigm.

Authors:  Anne C Ferguson-Smith
Journal:  Nat Rev Genet       Date:  2011-07-18       Impact factor: 53.242

7.  The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.

Authors:  Jie Liu; Beth Erlichman; Lee S Weinstein
Journal:  J Clin Endocrinol Metab       Date:  2003-09       Impact factor: 5.958

8.  A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis.

Authors:  Ahmet Anık; Gönül Catlı; Ayhan Abacı; Uluc Yiş; Hale Oren; Handan Güleryüz; Sefa Kızıldağ; Ece Böber
Journal:  J Pediatr Endocrinol Metab       Date:  2014-05       Impact factor: 1.634

9.  Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

Authors:  Jet Bliek; Gaetano Verde; Jonathan Callaway; Saskia M Maas; Agostina De Crescenzo; Angela Sparago; Flavia Cerrato; Silvia Russo; Serena Ferraiuolo; Maria Michela Rinaldi; Rita Fischetto; Faustina Lalatta; Lucio Giordano; Paola Ferrari; Maria Vittoria Cubellis; Lidia Larizza; I Karen Temple; Marcel M A M Mannens; Deborah J G Mackay; Andrea Riccio
Journal:  Eur J Hum Genet       Date:  2008-12-17       Impact factor: 4.246

10.  Human and mouse ZFP57 proteins are functionally interchangeable in maintaining genomic imprinting at multiple imprinted regions in mouse ES cells.

Authors:  Sachiko Takikawa; Xin Wang; Chelsea Ray; Max Vakulenko; Fong T Bell; Xiajun Li
Journal:  Epigenetics       Date:  2013-10-17       Impact factor: 4.528

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  32 in total

Review 1.  One protein to rule them all: The role of CCCTC-binding factor in shaping human genome in health and disease.

Authors:  Michal Lazniewski; Wayne K Dawson; Anna Maria Rusek; Dariusz Plewczynski
Journal:  Semin Cell Dev Biol       Date:  2018-10-11       Impact factor: 7.727

2.  Effect of dC → d(m5C) substitutions on the folding of intramolecular triplexes with mixed TAT and C+GC base triplets.

Authors:  Carolyn E Carr; Rajkumar Ganugula; Ronald Shikiya; Ana Maria Soto; Luis A Marky
Journal:  Biochimie       Date:  2017-12-24       Impact factor: 4.079

3.  The effect of laser-assisted hatching on the methylation and expression pattern of imprinted gene IGF2/H19 in mouse blastocysts and offspring.

Authors:  Peng Huo; Kai Deng; Lulu Wang; Man Li; Jun Yao; Jianghua Le; Xiaocan Lei; Shun Zhang
Journal:  J Assist Reprod Genet       Date:  2020-10-21       Impact factor: 3.412

Review 4.  DNA Methylation: Shared and Divergent Features across Eukaryotes.

Authors:  Robert J Schmitz; Zachary A Lewis; Mary G Goll
Journal:  Trends Genet       Date:  2019-08-06       Impact factor: 11.639

5.  Loss of methylation of H19-imprinted gene derived from assisted reproductive technologies can be mitigated by cleavage-stage embryo transfer in mice.

Authors:  Shuqiang Chen; Meizi Zhang; Li Li; Ming Wang; Yongqian Shi; Hengde Zhang; Bin Kang; Na Tang; Bo Li
Journal:  J Assist Reprod Genet       Date:  2019-09-12       Impact factor: 3.412

Review 6.  Epigenetic aberrations in human pluripotent stem cells.

Authors:  Shiran Bar; Nissim Benvenisty
Journal:  EMBO J       Date:  2019-05-14       Impact factor: 11.598

7.  A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Authors:  Wendy N Nembhard; Xinyu Tang; Jingyun Li; Stewart L MacLeod; Joseph Levy; Gerald B Schaefer; Charlotte A Hobbs
Journal:  Am J Med Genet A       Date:  2018-02-05       Impact factor: 2.802

Review 8.  Epigenetics Variation and Pathogenesis in Diabetes.

Authors:  Haichen Zhang; Toni I Pollin
Journal:  Curr Diab Rep       Date:  2018-10-02       Impact factor: 4.810

9.  Cyclic DNA remethylation following active demethylation at euchromatic regions in mouse embryonic stem cells.

Authors:  Musashi Kubiura-Ichimaru; Takamasa Ito; Louis Lefebvre; Masako Tada
Journal:  Chromosome Res       Date:  2020-11-17       Impact factor: 5.239

10.  Distinct H3K9me3 and DNA methylation modifications during mouse spermatogenesis.

Authors:  Yingdong Liu; Yanping Zhang; Jiqing Yin; Yawei Gao; Yanhe Li; Dandan Bai; Wenteng He; Xueliang Li; Pengfei Zhang; Rongnan Li; Lingkai Zhang; Yanping Jia; Yalin Zhang; Jiaming Lin; Yi Zheng; Hong Wang; Shaorong Gao; Wenxian Zeng; Wenqiang Liu
Journal:  J Biol Chem       Date:  2019-10-29       Impact factor: 5.157

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