Categoría: Trends in Genetics
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GRIN2A: one gene, many phenotypes
GRIN2A, a gene encoding a subunit of the N-methyl-d-aspartate (NMDA) receptor, is linked to epilepsy, language impairment, and schizophrenia, but how these associations relate to one another within individuals remains unclear. Recontacting GRIN2A carri…
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The enigma of transposable element abundance: lessons from Arabidopsis
Transposable elements (TEs) represent a major component of diverse genomes, can generate large-effect mutations, and affect adaptive evolution. Despite their significant role in various evolutionary processes, the regulatory mechanisms governing TE abu…
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Circular DNA in eukaryotes (ecDNA and eccDNA included): Fusion Conference provides interdisciplinary insights into an emerging field
Circular DNA molecules that exist outside of chromosomes are common in the cells of all eukaryotes. Genes expressed from these extrachromosomal circular DNA molecules drive rapid evolution in yeasts, animals, and plants and play important roles in canc…
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De novo mutations and environmental modifiers: lessons from neural tube defects
Spina bifida is a clinically and etiologically heterogeneous group of neural tube defects (NTDs) that includes meningomyelocele. While folic acid (FA) supplementation has reduced the incidence by 30–50%, genetic contributors remain only partially under…
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Beyond the baseline: mapping the context-specific regulatory landscape of disease
Genome-wide association studies have identified thousands of intergenic variants associated with disease, most of which are presumed to act by affecting gene regulation. Standard expression quantitative trait locus (eQTL) studies were able to link many…
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RNA polymerase II: the elephant in the room
How genes respond to external signals is poorly understood, with transcription factors and histones proposed as mediators of signals to RNA polymerase II (Pol II). However, recent work shows that Pol II is the direct target of more than 100 protein kin…