MeCP2: the genetic driver of Rett syndrome epigenetics

KV Good, JB Vincent, J Ausió - Frontiers in Genetics, 2021 - frontiersin.org
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Repetitive elements in aging and neurodegeneration

KE Copley, J Shorter - Trends in Genetics, 2023 - cell.com
Repetitive elements (REs), such as transposable elements (TEs) and satellites, comprise
much of the genome. Here, we review how TEs and (peri) centromeric satellite DNA may …

Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk

BI Bustos, K Billingsley, C Blauwendraat, JR Gibbs… - Brain, 2023 - academic.oup.com
Parkinson's disease is a complex neurodegenerative disorder with a strong genetic
component, for which most known disease-associated variants are single nucleotide …

[HTML][HTML] Alternative models for transgenerational epigenetic inheritance: Molecular psychiatry beyond mice and man

GR Hime, SLA Stonehouse, TY Pang - World journal of psychiatry, 2021 - ncbi.nlm.nih.gov
Mental illness remains the greatest chronic health burden globally with few in-roads having
been made despite significant advances in genomic knowledge in recent decades. The field …

[HTML][HTML] EccBase: A high-quality database for exploration and characterization of extrachromosomal circular DNAs in cancer

H Sun, X Lu, L Zou - Computational and Structural Biotechnology Journal, 2023 - Elsevier
Extrachromosomal circular DNAs (eccDNAs) are widely observed in eukaryotes. Previous
studies have demonstrated that eccDNAs are essential to cancer progression, and found …

Expression quantitative trait loci (eQTLs) associated with retrotransposons demonstrate their modulatory effect on the transcriptome

S Koks, AL Pfaff, VJ Bubb, JP Quinn - International Journal of Molecular …, 2021 - mdpi.com
Transposable elements (TEs) are repetitive elements that belong to a variety of functional
classes and have an important role in shaping genome evolution. Around 50% of the human …

Skeletal muscle LINE-1 ORF1 mRNA is higher in older humans but decreases with endurance exercise and is negatively associated with higher physical activity

PA Roberson, MA Romero… - Journal of Applied …, 2019 - journals.physiology.org
The long interspersed nuclear element-1 (L1) is a retrotransposon that constitutes 17% of
the human genome and is associated with various diseases and aging. Estimates suggest …

Perturbed DNA methylation by Gadd45b induces chromatin disorganization, DNA strand breaks and dopaminergic neuron death

C Ravel-Godreuil, O Massiani-Beaudoin, P Mailly… - Iscience, 2021 - cell.com
Age is a major risk factor for neurodegenerative diseases like Parkinson's disease, but few
studies have explored the contribution of key hallmarks of aging, namely DNA methylation …

Pericentromeric satellite RNAs as flexible protein partners in the regulation of nuclear structure

M Lopes, S Louzada… - Wiley Interdisciplinary …, 2024 - Wiley Online Library
Pericentromeric heterochromatin is mainly composed of satellite DNA sequences. Although
being historically associated with transcriptional repression, some pericentromeric satellite …

At the dawn of the transcriptomic medicine

G Koks, AL Pfaff, VJ Bubb… - … Biology and Medicine, 2021 - journals.sagepub.com
Progress in genomic analytical technologies has improved our possibilities to obtain
information regarding DNA, RNA, and their dynamic changes that occur over time or in …