Reconsidering the significance of genomic word frequency
We propose that the distribution of DNA words in genomic sequences can be primarily characterized by a double Pareto-lognormal distribution, which explains lognormal and power-law features found across all known genomes.
Csűrös, Miklós +2 more
core +5 more sources
Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han +25 more
core +2 more sources
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel +12 more
wiley +1 more source
Live cell imaging of low- and non-repetitive chromosome loci using CRISPR-Cas9. [PDF]
Imaging chromatin dynamics is crucial to understand genome organization and its role in transcriptional regulation. Recently, the RNA-guidable feature of CRISPR-Cas9 has been utilized for imaging of chromatin within live cells. However, these methods are
Adli, Mazhar +9 more
core +1 more source
Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining
IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis +3 more
wiley +1 more source
Local Tandem Repeat Expansion in Xist RNA as a Model for the Functionalisation of ncRNA
Xist, the master regulator of the X chromosome inactivation in mammals, is a 17 kb lncRNA that acts in cis to silence the majority of genes along the chromosome from which it is transcribed.
Neil Brockdorff
doaj +1 more source
Analysis of the giant genomes of Fritillaria (Liliaceae) indicates that a lack of DNA removal characterizes extreme expansions in genome size. [PDF]
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.Plants exhibit an extraordinary range of genome sizes,
Andrew R. Leitch +18 more
core +2 more sources
A regulatory axis involving APE1, AUF1, and miR‐221 is proposed. Pri‐miR‐221 is processed by DROSHA and DICER to generate mature miR‐221, which targets p27Kip1 mRNA. APE1 and AUF1 compete for pre‐miR‐221 binding. Reduced APE1/AUF1 levels impair miR‐221 biogenesis, decrease p27Kip1 mRNA degradation, and promote cell cycle progression, chemoresistance ...
Matilde Clarissa Malfatti +3 more
wiley +1 more source
Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada +5 more
wiley +1 more source
Genotyping of IRGM tetranucleotide promoter oligorepeats by fluorescence resonance energy transfer
Fluorescence resonance energy transfer (FRET) genotyping has been well established for the rapid assessment of single nucleotide polymorphisms (SNPs) and deletions. A design is presented that allows the typing of short tandem oligo repeat sequences using
Christopher D. Intemann +5 more
doaj +1 more source

