Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

D Monk, DJG Mackay, T Eggermann, ER Maher… - Nature Reviews …, 2019 - nature.com
Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Reprogramming of meiotic chromatin architecture during spermatogenesis

Y Wang, H Wang, Y Zhang, Z Du, W Si, S Fan, D Qin… - Molecular cell, 2019 - cell.com
Chromatin organization undergoes drastic reconfiguration during gametogenesis. However,
the molecular reprogramming of three-dimensional chromatin structure in this process …

Establishment of paternal methylation imprint at the H19/Igf2 imprinting control region

J Liao, S Song, S Gusscott, Z Fu, I VanderKolk… - Science …, 2023 - science.org
The insulator model explains the workings of the H19 and Igf2 imprinted domain in the
soma, where insulation of the Igf2 promoter from its enhancers occurs by CTCF in the …

[HTML][HTML] Long noncoding RNA (lncRNA) H19: An essential developmental regulator with expanding roles in cancer, stem cell differentiation, and metabolic diseases

J Liao, B Chen, Z Zhu, C Du, S Gao, G Zhao, P Zhao… - Genes & diseases, 2023 - Elsevier
Recent advances in deep sequencing technologies have revealed that, while less than 2%
of the human genome is transcribed into mRNA for protein synthesis, over 80% of the …

Reorganized 3D genome structures support transcriptional regulation in mouse spermatogenesis

Z Luo, X Wang, H Jiang, R Wang, J Chen, Y Chen… - Iscience, 2020 - cell.com
Three-dimensional chromatin structures undergo dynamic reorganization during
mammalian spermatogenesis; however, their impacts on gene regulation remain unclear …

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

S Chang, MS Bartolomei - Disease models & mechanisms, 2020 - journals.biologists.com
Genomic imprinting, a phenomenon in which the two parental alleles are regulated
differently, is observed in mammals, marsupials and a few other species, including seed …

Promising therapeutic aspects in human genetic imprinting disorders

Y Chao, Y Qin, X Zou, X Wang, C Hu, F Xia, C Zou - Clinical Epigenetics, 2022 - Springer
Genomic imprinting is an epigenetic phenomenon of monoallelic gene expression pattern
depending on parental origin. In humans, congenital imprinting disruptions resulting from …

The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model

A Freschi, R Del Prete, L Pignata… - Human Molecular …, 2021 - academic.oup.com
The reciprocal parent of origin-specific expression of H19 and IGF2 is controlled by the
H19/IGF2: IG-DMR (IC1), whose maternal allele is unmethylated and acts as a CTCF …

Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models

S Chang, D Fulmer, SK Hur, JL Thorvaldsen, L Li… - Elife, 2022 - elifesciences.org
Dysregulation of the imprinted H19/IGF2 locus can lead to Silver-Russell syndrome (SRS) in
humans. However, the mechanism of how abnormal H19/IGF2 expression contributes to …