Skip to main content
Premium Trial:

Request an Annual Quote

All the King's Horses and All the King's Men …


The so-called "Humpty Dumpty" chromosomes may cause cancer to develop much more quickly than usual because they contain many mutations in the same cell, says New Scientist's Catherine de Lange. Wellcome Trust Sanger Institute researcher Peter Campbell was studying genes from a leukemia patient when he saw a chromosome that looked like it had been "smashed into hundreds of fragments and stuck back together, Humpty Dumpty-like," instead of committing cell suicide as would normally be expected, de Lange says. The resulting mess contained several cancer-causing mutations, she adds. Campbell, who published a study on the phenomenon in Cell, sequenced the genes of more than 700 people looking for the abnormality and found the same pattern in about 2 to 3 percent of them. Those cells, Campbell tells de Lange, have taken a "significant leap on the road to cancer." Cells were thought to accumulate mutations slowly, one by one, over the course of many years, adds The New York Times' Nicholas Wade. This shattering effect on the chromosomes shows instead that many mutations can be formed in one event. Though he doesn't know the cause, Campbell says that the damage to the chromosomes can be caused by "a pulse of radiation," Wade reports. Though the discovery doesn't yet have any implications for cancer treatment, the researchers say it explains why some cancers sometimes seem to appear suddenly and aggressively, despite routine screenings.

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.