But what happens if a purebred puppy doesn’t look exactly like its siblings when it’s born? Chances are, it might not be a flaw — but rather a hidden gene variant that decided to show itself.

New research from Purdue University’s College of Veterinary Medicine shows that some breeds of dogs have hidden coat colors — and in some cases, other traits — that have been lurking all along.

Led by Kari Ekenstedt, DVM, Ph.D., assistant professor of anatomy and genetics, and Dayna Dreger, Ph.D., the lead scientist in Ekenstedt’s canine genetics research laboratory, the team looked at a dozen different genes in 212 dog breeds. Purdue researchers, together with industry partners at Wisdom Health, analyzed data that had been initially collected by WISDOM PANEL™ for the development of canine DNA tests. The work was published Oct. 28 in PLOS ONE.

“These are purebred dogs with traits that their breed clubs say they’re not supposed to have,” said Ekenstedt, whose research program focuses on canine genetics. “The message of this paper is, ‘Hey, these gene variants exist in your breed, and if a few dogs are born with these traits, it’s not caused by accidental breeding and it’s not a mutt; it’s a purebred showing this known genetic potential.'”

Along with analyzing the data, researchers used standard breed descriptions from major American and international dog breed registries to determine coat colors and tail lengths that were accepted within each breed.

“There was a lot of information we didn’t expect,” Dreger said. “When it comes to different dog breeds, their standards are mostly based on preference and aesthetics. We make assumptions for certain breeds based on what we expect their coat colors to be.”

Ekenstedt says coat color genes have a significant amount of epistasis between them, meaning that what happens at one gene can mask what’s happening at another gene. Because of epistasis, it’s rare to see those masked genes actually expressed in a dog’s coat color.

One example of a “fault” allele — a gene variant that would cause a trait that is not allowed in a breed standard — is an allele that causes the brown color, which affects both hair pigment and skin pigment. The color is allowed in breeds like the Labrador Retriever where it causes the chocolate color. However, researchers observed that in breeds where brown is not allowed, such as the Rottweiler and the German Shepherd Dog, brown alleles exist at low frequencies.

Another example of a fault allele is in the Weimaraner, which exists in both longhaired and shorthaired varieties. At least one dog breed organization does not allow longhaired Weimaraners while several others do allow them. Of the Weimaraners sampled in this data, the longhaired allele is present at a 4% frequency.

The same goes for other traits, too, Dreger said. For example, there are around 18 recognized breeds of dogs that have the genetic potential to be born without a tail — such as the popular Australian Shepherd. But the data shows that up to 48 of the breeds analyzed possess the tailless gene variant, usually at a very low frequency; one of those breeds is the Dachshund.

“A breeder would certainly be surprised to see a Dachshund born without a tail,” Dreger said. “The chances are low, but our research shows that the potential is there.”

Both Dreger and Ekenstedt hope the research prompts some discussions within the dog community.

“I want this to start science-based conversations,” Dreger said. “We’re not here to make decisions on what a breed should or shouldn’t look like or what a breed club should do. We’re here to say these are the facts, and these are the gene variants that naturally exist in these breeds.”

They also hope it changes some perspectives when it comes to what is to be expected with certain breeds of dogs.

“There’s an assumption that the standards for these different breeds of dogs are set in stone,” Dreger said. “People will often make assumptions that if it doesn’t match this, it’s not purebred. This data shows that there is a lot of variation in some of these breeds, and the standards are not as concrete as we expect them to be.”

The conclusion comes from a long-term study of the Rum red deer by researchers at the UK Universities of Edinburgh, St Andrews and Cambridge, and at the Australian National University, which now has field records and genetic data spanning 45 years. Female red deer (hinds) give birth to a single calf each year, and hinds that give birth earlier have more offspring over their entire lifetime. The research shows that this is in part because the genes that make hinds give birth earlier each year also increase the reproductive success of the animals that bear them, and as a result, genes for breeding earlier become more common over time.

As the climate changes worldwide, advances in the timing of reproduction have been documented in many wild animals and plants. However, this article is among the first to demonstrate the role of Darwinian evolution (that is, genetic change by natural selection) in advancing the timing of reproduction. Genetic evolution in wild animal populations is often thought to be slow and irrelevant on the time scale of human lives, but this result shows that genetic change can be sufficiently fast to be observed over a few decades.

The article also shows that genetic change is not everything. The rapid change in birth dates in Rum’s deer is due to the combined effects of direct changes in physiology or behaviour in response to climate change, changes in the population demographics, and evolution. However not all of the advance in dates can be explained by these multiple mechanisms and the long-term outcome of these processes for the deer population is unclear.

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“We have found disease-related changes in the cells that line the tumour blood vessels, so called endothelial cells, which have long been considered a possible clinical target for cancer treatment,” says Lynn Butler, assistant professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet, who led the study. “Proteins only expressed in the endothelial cells of the tumour vessels could be used as targets to attack the tumour’s blood supply, or for delivery of therapeutic agents, without affecting the normal brain.”

There are more than 200 different cell types in the human body, each performing their own role. Understanding the differences between these cell types helps us understand how organs work and how cells change in disease. Cell identity is determined by the specific proteins expressed, which can be predicted by measuring the protein transcripts found inside the cell. For the study, the researchers analysed human brain tissue and samples of the brain tumour glioblastoma, an incurable disease with a very high mortality rate.

Existing data on transcripts from whole human brain tissue has limited usefulness when one is interested in the properties of a particular cell type, as these samples contain many different brain cell types. Now, the researchers have developed a new method to process this data and identify transcripts only expressed in certain types of brain cells. The method proved to be useful for defining cell-type properties, as well as directly comparing cell-type profiles between normal and diseased tissue. The researchers used this method to predict 10 novel glioblastoma-specific endothelial cell transcripts, which are not found in the vasculature of normal brain tissue.

“These markers could provide insights into the biology of glioblastoma and represent potential tumour-specific targets for therapy,” says Lynn Butler.

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“We wanted to find genes that are only important for the survival of cells with APC mutations, but not for healthy cells,” explains Dr. Armin Wiegering, head of a junior research group at the JMU Biocentre and physician in surgery at Würzburg University Hospital.

The search for a needle in a haystack was successful. The research teams now report this in the journal Nature Cell Biology: If they inhibited the gene called eIF2B5, the mutated colon cancer cells died of programmed cell death — a self-destruction programme with which the organism normally disposes of damaged or aged cells. Healthy cells, on the other hand, were able to cope with the inhibition of the gene without any impairment.

Possible point of attack for treatment

“We have thus identified a very specific Achilles heel of APC-mutated tumours,” says Professor Martin Eilers, cancer researcher at the Biocentre. We now know of a site where newly developed antitumour drugs might be able to have a very targeted effect.

The efficacy of an elF2B5 inhibition was shown in animal experiments. If the gene is not fully active in mice, they do not develop colon cancer so quickly and survive much longer if they do. The researchers also experimented with organoids. These are miniature tumours that are cultivated in the laboratory from the cancer tissue of patients. If the amount of elF2B5 was reduced, the organoids died.

Further genes will be investigated

Next, the researchers want to investigate further genes in colon cancer cells — because elF2B5 is only one of five subunits of the larger eIF2B gene complex. “We also want to characterize the other subunits and see if we can also find a specificity here,” Wiegering announces. We will then establish a method to degrade eIF2B5 in cancer cells. If this is successful, it might lead to a new option for therapies.

Colon cancer

Colon cancer is one of the three most common tumour diseases. About six percent of all people in Germany fall ill with it in the course of their lives; about half of those affected die from the consequences of the tumour. Since more than 90 percent of all colon tumours show an APC mutation, research at JMU could lead to a very broad, new therapeutic approach.

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When an electron is captured in a nanoscale trap in solids, its quantum mechanical wave function can exhibit spatial oscillation at sub-terahertz frequencies. Time-resolved detection of such picosecond dynamics of quantum waves is important, as the detection provides a way of understanding the quantum behavior of electrons in nano-electronics. It also applies to quantum information technologies such as the ultrafast quantum-bit operation of quantum computing and high-sensitivity electromagnetic-field sensing. However, detecting picosecond dynamics has been a challenge since the sub-terahertz scale is far beyond the latest bandwidth measurement tools.

A KAIST team led by Professor Heung-Sun Sim developed a theory of ultrafast electron dynamics in a nanoscale trap, and proposed a scheme for detecting the dynamics, which utilizes a quantum-mechanical resonant state formed beside the trap. The coupling between the electron dynamics and the resonant state is switched on and off at a picosecond so that information on the dynamics is read out on the electric current being generated when the coupling is switched on.

NTT realized, together with NPL, the detection scheme and applied it to electron motions in a nanoscale trap formed in a silicon transistor. A single electron was captured in the trap by controlling electrostatic gates, and a resonant state was formed in the potential barrier of the trap.

The switching on and off of the coupling between the electron and the resonant state was achieved by aligning the resonance energy with the energy of the electron within a picosecond. An electric current from the trap through the resonant state to an electrode was measured at only a few Kelvin degrees, unveiling the spatial quantum-coherent oscillation of the electron with 250 GHz frequency inside the trap.

Professor Sim said, “This work suggests a scheme of detecting picosecond electron motions in submicron scales by utilizing quantum resonance. It will be useful in dynamical control of quantum mechanical electron waves for various purposes in nano-electronics, quantum sensing, and quantum information.”

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An international study, co-led by The University of Queensland’s Dr Vera Weisbecker, has revealed that wombat jaws appear to change in relation to their diets.

“The survival of wombats depends on their ability to chew large amounts of tough plants such as grasses, roots and even bark,” Dr Weisbecker said.

“Climate change and drought are thought to make these plants even tougher, which might require further short-term adaptations of the skull.

“Scientists had long suspected that native Australian marsupial mammals were limited in being able to adapt their skull in this way.

“But in good news, our research has contradicted this idea.”

The team used a technique known as geometric morphometrics — the study of how shapes vary — to characterise skull shape variation within three different species of wombat, with each species having a slightly different diet.

The data were collected with computed tomography — known to most as CT scanning — and analysed with new computation techniques developed by UQ’s Dr Thomas Guillerme.

Dr Olga Panagiotopoulou, who co-led the research project from the Monash Biomedicine Discovery Institute, said the study suggested that short-term jaw and skull adaptation was occurring.

“It seems that individuals within each wombat species differ most where their chewing muscles attach, or where biting is hardest,” Dr Panagiotopoulou said.

“This means that individual shapes are related to an individual’s diet and feeding preferences.

“Their skulls seem to be changing to match their diets.

“There are a number of factors that can influence skull shape, but it seems that wombats are able to remodel their jaws as the animals grow to become stronger and protect themselves from harm.”

Dr Weisbecker said the team was particularly excited that the critically endangered northern hairy-nosed wombat, with around 250 individuals left, seemed to be able to adapt to new diets.

“In order to protect endangered animals, it’s sometimes necessary to translocate them to new sanctuary locations where threats are less, but diets may be quite different,” she said.

“Our findings suggest that future generations of these northern hairy-nosed wombats will adapt well to a different diet in a new home.

The researchers are planning to use a similar analysis on koala skull shapes.

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