Enlarge (credit: LEONELLO CALVETTI/SCIENCE PHOTO LIBRARY)

One of the challenges of working with ancient DNA samples is that damage accumulates over time, breaking up the structure of the double helix into ever smaller fragments. In the samples we've worked with, these fragments scatter and mix with contaminants, making reconstructing a genome a large technical challenge.

But a dramatic paper released on Thursday shows that this isn't always true. Damage does create progressively smaller fragments of DNA over time. But, if they're trapped in the right sort of material, they'll stay right where they are, essentially preserving some key features of ancient chromosomes even as the underlying DNA decays. Researchers have now used that to detail the chromosome structure of mammoths, with some implications for how these mammals regulated some key genes.

DNA meets Hi-C

The backbone of DNA's double helix consists of alternating sugars and phosphates, chemically linked together (the bases of DNA are chemically linked to these sugars). Damage from things like radiation can break these chemical linkages, with fragmentation increasing over time. When samples reach the age of something like a Neanderthal, very few fragments are longer than 100 base pairs. Since chromosomes are millions of base pairs long, it was thought that this would inevitably destroy their structure, as many of the fragments would simply diffuse away.

Enlarge / An artist's conception of one of the last mammoths of Wrangel Island. (credit: Beth Zaiken)

A small group of woolly mammoths became trapped on Wrangel Island around 10,000 years ago when rising sea levels separated the island from mainland Siberia. Small, isolated populations of animals lead to inbreeding and genetic defects, and it has long been thought that the Wrangel Island mammoths ultimately succumbed to this problem about 4,000 years ago.

A paper in Cell on Thursday, however, compared 50,000 years of genomes from mainland and isolated Wrangel Island mammoths and found that this was not the case. What the authors of the paper discovered not only challenges our understanding of this isolated group of mammoths and the evolution of small populations, it also has important implications for conservation efforts today.

A severe bottleneck

It’s the culmination of years of genetic sequencing by members of the international team behind this new paper. They studied 21 mammoth genomes—13 of which were newly sequenced by lead author Marianne Dehasque; others had been sequenced years prior by co-authors Patrícia Pečnerová, Foteini Kanellidou, and Héloïse Muller. The genomes were obtained from Siberian woolly mammoths (Mammuthus primigenius), both from the mainland and the island before and after it became isolated. The oldest genome was from a female Siberian mammoth who died about 52,300 years ago. The youngest were from Wrangel Island male mammoths who perished right around the time the last of these mammoths died out (one of them died just 4,333 years ago).

Enlarge / Top row: individual steps in the reaction process. Bottom row: cartoon diagram of the top, showing the position of each DNA and RNA strand. (credit: Hiraizumi, et. al.)

While CRISPR is probably the most prominent gene-editing technology, there are others, some developed before and since. And people have been developing CRISPR variants to perform more specialized functions, like altering specific bases. In all of these cases, researchers are trying to balance a number of competing factors: convenience, flexibility, specificity and precision for the editing, low error rates, and so on.

So, having additional options for editing can be a good thing, enabling new ways of balancing those different needs. On Wednesday, a pair of papers in Nature describe a DNA-based parasite that moves itself around bacterial genomes through a mechanism that hasn't been previously described. It's nowhere near ready for use in humans, but it may have some distinctive features that make it worth further development.

Going mobile

Mobile genetic elements, commonly called transposons, are quite common in many species—they make up nearly half the sequences in the human genome, for example. They are indeed mobile, showing up in new locations throughout the genome, sometimes by cutting themselves out and hopping to new locations, other times by sending a copy out to a new place in the genome. For any of this to work, they need to have an enzyme that cuts DNA and specifically recognizes the right transposon sequence to insert into the cut.

Enlarge / The echidna, an egg-laying mammal, doesn't develop teeth. (credit: Yvonne Van der Horst)

Outliers among mammals, monotremes lay eggs instead of giving birth to live young. Only two types of monotremes, the platypus and echidna, still exist, but more monotreme species were around about 100 million years ago. Some of them might possibly be even weirder than their descendants.

Monotreme fossils found in refuse from the opal mines of Lightning Ridge, Australia, have now revealed the opalized jawbones of three previously unknown species that lived during the Cenomanian age of the early Cretaceous. Unlike modern monotremes, these species had teeth. They also include a creature that appears to have been a mashup of a platypus and echidna—an “echidnapus.”

Fossil fragments of three known species from the same era were also found, meaning that at least six monotreme species coexisted in what is now Lightning Ridge. According to the researchers who unearthed these new species, the creatures may have once been as common in Australia as marsupials are today.