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The human cytoskeleton consists of three major classes of filaments: microfilaments, microtubules and intermediate filaments. Here, we summarize recent progress in deciphering the structure and function of intermediate filaments and their implications for human disease.
Spliceosome biogenesis and recycling remains a largely unexplored area. Two papers now reveal how protein chaperones remodel the 20S U5 snRNP, leading to formation of the U4/U6.U5 tri-snRNP.
In this Perspective, the author describes the recent progress in understanding solute carrier (SLC) biology and discusses the roles of new families of atypical SLCs.
Pregnancy loss is common in humans, but maternal genetic factors modulating its incidence are largely unknown. In a meta-analysis of genome-wide association studies, researchers identified a genetic variant that seems to increase risk of pregnancy loss by dysregulating meiotic recombination between homologous chromosomes during egg formation.
Cryo-electron microscopy of brain tissue from two individuals with Down syndrome showed amyloid-β (Aβ) and tau filaments identical to those found in individuals with sporadic or dominantly inherited Alzheimer disease (AD), but also two types of Aβ40 filaments with distinct structures different from those previously reported in AD and cerebral amyloid angiopathy.
In this Review, the authors present an overview of our current understanding of the relationship between DNA methylation and three-dimensional chromatin architecture, discussing the extent to which DNA methylation may regulate the folding of the genome.