Genetics & epigenetics

Researchers identified 1,514 previously unannotated microexons and rare genetic variants predicted to disrupt their splicing. Some are associated with autism, but the study does not explain 85% of autism cases.

A patient with Wilson disease has received an experimental therapy designed to correct a genetic mutation directly in liver cells. This marks the first clinical use of in vivo prime editing, although successful DNA correction and clinical benefit have not yet been demonstrated.

Researchers have found that immune cells can retain a record of previous stimulation in the three-dimensional structure of their DNA. Persistent chromatin loops helped mouse macrophages mount stronger responses to subsequent signals.

Google DeepMind has launched AlphaGenome Atlas, a resource that precomputes the likely molecular effects of roughly 9 billion possible single-letter DNA changes in the human genome. It is not a clinical answer key, but it could dramatically speed up variant prioritization.

A typical honey bee drone has a mother but no father because it develops from an unfertilized egg and carries one chromosome set. Here is how that system works, why csd complicates the simple rule, and what it means for bee families.

Inherited sequence patterns within telomeres help determine the length of individual chromosome ends. Removing these variants with CRISPR changed the length of one specific telomere.

A study of more than a million people identified 1,260 genetic variants associated with the Big Five personality traits. The genetic signal is robust, but DNA still predicts an individual’s personality only poorly.

Different cells in the same woman can use different parental X chromosomes. X inactivation silences most of one X early in development, creating a lifelong cellular mosaic.

After widespread DNA breaks in glioblastoma cells, changes in 3D genome organization, gene expression and epigenetic marks remained detectable for at least two weeks.

A deep-learning framework called Melody learned to predict methylation patterns from 10-kb DNA sequence windows across 39 normal human cell types, while a transcriptome-informed version extended the approach to unseen cell types.

Most nucleated human cells contain roughly two metres of DNA. Nucleosomes and higher-order chromatin organization compact this enormous molecule into a microscopic nucleus while keeping the genome usable.

Researchers programmed CRISPR-Cas9 to distinguish one of three copies of chromosome 21 and promote its loss in trisomic human cells. The study is a compelling proof of concept, not a treatment for Down syndrome.

Photo 51 became the symbol of Rosalind Franklin’s contribution to the discovery of DNA’s structure. Yet it was not a ready-made image of the double helix: her measurements, calculations and analysis were equally important.

LINE-1 does not always complete a conventional insertion. Cell experiments show that its unfinished DNA copies can recombine with distant chromosome breaks or with one another, producing translocations, inversions and deletions.

Mendel uncovered basic patterns of inheritance through pea experiments. Here is how his laws work and why modern genetics is more complex.

A mutation is a change in the DNA sequence. One genetic “letter” may be replaced by another, or a section of DNA may be deleted, duplicated, inserted, or rearranged. Not all mutations have…

Epigenetics changes how cells use DNA without changing the DNA sequence itself.

An “on” gene is being used by the cell, while an “off” gene is largely silent.

Almost all cells contain the same DNA, but they function differently because different genes are active in them.

DNA, a gene, and the genome are related to each other, but they refer to different levels of organization of hereditary information. DNA is a long molecule in whose sequence biological…

Half of a person’s nuclear DNA comes from the mother and half from the father. Yet most of our cells contain another, much smaller genome that follows a different inheritance pattern. This…

In October 1587, Francesco I de’ Medici, Grand Duke of Tuscany, suddenly developed a severe fever. He died a few days later. His wife, Bianca Cappello, died at nearly the same time. It…