Friday, September 03, 2021

Mountaintop mining causes 40% loss of aquatic biodiversity

Environmental scan of DNA turns up 10,000 species living in streams

Peer-Reviewed Publication

DUKE UNIVERSITY

Stream life 

IMAGE: MOUNTAINTOP MINING THREATENS STREAMS IN THE APPALACHIAN REGION, A GLOBAL HOTSPOT OF BIODIVERSITY. view more 

CREDIT: CREDIT: DAVID HERASIMTSCHUK, FRESHWATERS ILLUSTRATED

DURHAM, N.C. – Trickling down over rocks, surrounded by wildflowers and ferns, Appalachian mountain streams are chock-full of life. They hold some of the world’s greatest diversity of freshwater animals, including many species that can’t be found anywhere else in the world.

But this biological diversity is severely threatened by mountaintop coal mining, whose downstream pollution impacts many of these species, according to a study in the September 2021 issue of the journal Ecological Applications.

Researchers found  that the effects of mountaintop coal mining are even more widespread than previously reported: Streams from heavily mined watersheds harbor 40% fewer species than streams with cleaner water.

That lost biodiversity includes fish, macro-invertebrates (such as insects, clams and crustaceans), algae, fungi, bacteria, unicellular organisms called protists, and more. In other words: it isn’t just the particularly sensitive species that are being affected.

“The impacts are really distributed across the whole tree of life,” said Marie Simonin, a researcher at France’s National Research Institute for Agriculture, Food and Environment (INRAE) and lead author of the study. 

Simonin and her team looked at 93 streams along a gradient ranging from heavily mined watersheds to relatively pristine streams across the Appalachian range in West Virginia. They found a clear relationship between the density of mining activities and loss of biodiversity: the more mining there is, the fewer species one finds.

“It was really surprising to see how consistent this decline in biodiversity is across all these really different groups of organisms, starting at really low levels of disturbance,” said Emily Bernhardt, Professor and Chair of biology at Duke University and senior author of the paper.

The results highlight another concerning pattern: significant diversity loss was detected in streams whose water was still far below the maximum disturbance standards set by the Environmental Protection Agency (EPA).

“A very small increase in mining activities in the watershed is already too much,” Simonin said.

This means that the detrimental effects of pollutants in aquatic species start at much lower concentrations that previously assumed.

“By the time you get to the EPA’s reference point, you've already lost most of the species you're going to lose,” Bernhardt said.

Although biodiversity loss due to mining had been shown in several groups of species separately, this study stands out by looking at the whole tree of life at once, in the same streams, at the same time. To do this, the team used an innovative method called environmental DNA (eDNA), which measures fragments of genetic materials that organisms leave behind in their environment.

This DNA could originate from excrement, lost bits of skin or scales, or from unicellular organisms. To collect it, researchers gathered water samples from each stream and filtered them through extremely fine filters. DNA stays stuck on the filters, and can then be extracted, sequenced, and sorted.

Groups of organisms, such as algae for example, share common genes, or segments of genes. By comparing the DNA obtained from the filters with DNA known to belong to a certain species or groups of species, scientists can determine what is hanging out in each stream, not unlike CSI agents running samples through their databases (but with far less drama).

This method holds huge promise for biodiversity assessments and water quality impacts.

“eDNA is an inexpensive approach that can provide substantial insights into drivers of biodiversity,” Bernhardt said. “It can open the possibility for monitoring water quality impacts over a much larger number of rivers across the globe.”

The results obtained with eDNA are well in line with those obtained with more traditional methods, with a fraction of the work. As an example, the team detected 28 species of fish in all 93 sampled mined streams by using eDNA. That is comparable with previous studies that had painstakingly collected, counted and identified the fish diversity of the same region. eDNA provided a much quicker and less invasive method of diversity assessment, with similar results.

“You take a very small amount of water and you're able to see the impact on all those organisms. You don't need to kill any animals, you don't need a huge team of people skilled in identifying all of these species, everybody could do the field work,” Simonin said. “This can really change the scale at which we can monitor biodiversity.”

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This research was funded by NSF Grant No. EAR-1417405.

CITATION: “Consistent Declines in Aquatic Biodiversity Across Diverse Domains of Life in Rivers Impacted by Surface Coal Mining,” M. Simonin, J. D. Rocca, J. R. Gerson, E. Moore, A. C. Brooks, L. Czaplicki, M. R. V. Ross, N. Fierer, J. M. Craine, E. S. Bernhardt. Ecological Applications, June 17, 2021 (first published). DOI: 10.1002/eap.2389

 

Do we need an IPCC for food?


An intergovernmental body that sets Paris Agreement-style targets for global food system transformation may help both people and planet. But needs a critical rethink to ensure legitimacy and impact


Peer-Reviewed Publication

THE ALLIANCE OF BIOVERSITY INTERNATIONAL AND THE INTERNATIONAL CENTER FOR TROPICAL AGRICULTURE

Food systems are a major contributor to biodiversity loss and climate change 

IMAGE: A FOOD MARKET IN THE COLOMBIAN ANDES view more 

CREDIT: ALLIANCE OF BIOVERSITY INTERNATIONAL AND CIAT/N.PALMER

The first United Nations Food Systems Summit (UNFSS), scheduled for September, could be as historic to food system transformation as the Rio Earth Summit of 1992 was to climate change. Rio sparked the creation of the Intergovernmental Panel on Climate Change, or IPCC, which has brought scientists and governments around the world together and has greatly increased consensus and understanding of the severity of our global climate crisis. Its Sixth Assessment Report, released this year, was its greatest call to action yet: climate change is widespread, rapid and intensifying.

While energy takes center stage in climate discussions, a growing number of scientists have shown that food systems are a major contributor to biodiversity loss and climate change. Today’s food systems are also terribly unequal and unhealthy for humans: diet-related disease remains the primary cause of premature mortality globally. The COVID-19 pandemic, conflict and climate change are exacerbated increasing hunger – some 900 million people today are food insecure. Four billion people struggle to access sufficient, and healthy diets, contributing to a public global health crisis that endangers global health even more than the pandemic.

As the human population continues to skyrocket and the climate crisis threatens food production, global action is needed. Would an IPCC for food be part of the answer? Writing in Science’s Policy Forum this week, researchers discuss the potential benefits and drawbacks that such a global food panel could bring.

“Science needs to be better integrated with policy and action,” said Fabrice DeClerck, a researcher at the Alliance of Bioversity International and CIAT contributing to the paper. While many global organizations prioritize food system transformation, including One CGIAR and the EAT-Lancet Commission on Food, Planet, Health, none have the authority to bring together 196 nations like the IPCC did to reduce greenhouse gas emissions in the legally binding Paris Agreement of 2016.

But action on food is as urgent as action on climate. The IPCC’s accomplishments have taken decades of drawn-out negotiations, and we don’t have this luxury for food if we are going to achieve 2030 goals. DeClerck and co-authors suggest that a diverse set of leading food-focused groups could be integrated under a United Nations-style framework to be nimble enough to reach a faster consensus on the major challenges facing food.

Everyone’s knowledge matters

The run-up to the UNFSS has already faced obstacles. As the authors note, some feel that the UNFSS is too focused on technology, or member state driven solutions and excludes many stakeholders, including the globe’s roughly 500 million smallholder farmers and low-income consumers who are at the highest risk of malnutrition and hunger.

For this reason, the authors suggest, we need a knowledge-policy interface that is more inclusive of the food systems’ myriad players.

“We have a tendency to say that scientific knowledge is the only valid knowledge out there,” said DeClerck, who is also the science director at the EAT Forum. “But there is also much indigenous knowledge and local knowledge that can be drawn upon to create robust food system assessments that are more inclusive.”

It is also critical for economic, social and behavioral sciences to be part of global food assessments, which are often led by biophysical, nutritional and climate scientists.

The authors propose three key considerations for an IPCC for food. The first is to understand what already exists in terms of expert knowledge, including the High-Level Panel of Experts on Food Security and Nutrition (HLPE), which an existing and important science-policy interface of the UN Committee on World Food Security (CFS). The second is to understand that “if pluralism, equitable participation, and inclusion of diverse forms of knowledge cannot be ensured, a new platform could do more harm than good.” Finally, effective food system governance cannot be based strictly on scientific input, but interaction between science and action.

“Fostering a just and sustainable global food system requires commitment, political will, and the participation of governments and stakeholders,” say the authors. “The implicit suggestion in many science-policy interface initiatives that the synthesis, assessment, and communication of knowledge will strengthen governance in and of itself is misguided and overly simplistic, and it risks detracting attention away from actual policy action.”

 

Reclamation awards $3.1 million in grants to develop water data, modeling and forecasting tools and information for water managers


Grant and Award Announcement

BUREAU OF RECLAMATION

Applied Science Grants 

IMAGE: INFORMATION GATHERING TOOLS HELP INFORM AND SUPPORT WATER MANAGEMENT DECISIONS. view more 

CREDIT: DAVID WALSH, BUREAU OF RECLAMATION

The Bureau of Reclamation selected 20 projects to share $3.1 million in applied science grants to develop tools and information to support water management decisions. These projects in 11 western states include improved water data, modeling and forecasting capabilities.

"Water managers today need more accurate and reliable information to make the best water management decisions in a changing climate," said Chief Engineer David Raff. "Applied Science Grants are an important tool to assist water managers getting the information they need so they can make those informed decisions."

Projects selected range from $48,000 for the Big Bend Conservation Alliance in Texas to develop a common data management platform for shared aquifers to several receiving the maximum of $200,000. Texas A&M University-Kingsville is receiving $107,497 to develop a web-based tool to simulate post-wildfire hydrologic changes in Northwest Montana.

To view a complete description of all the selected projects, please visit https://www.usbr.gov/watersmart/appliedscience.

Applied Science Grants are for non-federal entities to develop tools and information to support water management for multiple uses. Selected projects must provide at least a 50% non-federal cost-share. Project types include:

  • Enhancing modeling capabilities to improve water supply reliability and increase flexibility in water operations.
  • Improving or adapting forecasting tools and technologies to enhance management of water supplies and reservoir operations.
  • Improving access to and use of water resources data or developing new data types to inform water management decisions.

For more than 100 years, Reclamation and its partners have developed sustainable water and power future for the West. This program is part of the Department of the Interior's WaterSMART Program, which focuses on improving water conservation and reliability while helping water resource managers make sound decisions about water use. To find out more information about Reclamation's WaterSMART program, visit https://www.usbr.gov/watersmart.

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Wing shape determines how far birds disperse

A ROM study found that flight efficiency estimated from museum specimens can predict bird dispersal distances

Peer-Reviewed Publication

ROYAL ONTARIO MUSEUM

Birds wings from ROM collections. 

IMAGE: VARIOUS WING SHAPES FROM BIRDS IN ROYAL ONTARIO MUSEUM COLLECTIONS. view more 

CREDIT: PHOTO BY SANTIAGO CLARAMUNT. © ROYAL ONTARIO MUSEUM

Bird dispersal movements are thought to depend on complex demographic and genetic factors. Dr. Santiago Claramunt, Associate Curator of Birds at the Royal Ontario Museum (ROM) and Assistant Professor in the Department of Ecology and Evolutionary Biology of the University of Toronto, shows that there may be a simpler explanation: bird dispersal distances depend on the morphology and flight efficiency of the wings. The study, “Flight efficiency explains differences in natal dispersal distances in birds”, was published in the journal Ecology.

When a bird moves to establish a new breeding territory, how far does it go? This is a simple but fundamental question in ecology and evolution. Despite great advances in tracking technologies, we know little about the movement of young birds. Natal dispersal, the movement of birds from the place where they were born to a new breeding site, has important consequences for bird demography, genetic connectivity, and conservation.

The ability to predict bird dispersal capabilities from wing morphology may have applications in biodiversity conservation, the study concludes. “Climate change and habitat fragmentation are having a huge impact on bird populations and the capacity of species to move across the landscape can determine which species will thrive and which may become endangered. Species with reduced flight capabilities will have a harder time dealing with these impacts.” says Claramunt. Previous studies have shown that flightless birds are more prone to extinction, but birds with poor flight capabilities may be similarly threatened. “By using our museum specimens to estimate flight capabilities we can identify species that would be particularly vulnerable to these conservation challenges.”

The study evaluated the relationship between flight efficiency and natal dispersal distances for 75 bird species in the British Islands using data from the bird-ringing program of the British Trust for Ornithology. Bird wings size and shape were measured from collections held at the Royal Ontario Museum, the Louisiana State University Museum of Natural Science, and the University of Washington Burke Museum.

Species with elongated wings and efficient flights such as the Barn Swallow, Hirundo rustica, disperse long distances while species with short rounded wings such as the House Sparrow, Passer domesticus, remain very close to their nesting site.

Bird aerodynamics studies have long indicated that elongated (high aspect ratio) wings are the most efficient for long distance flights. This new study confirms this prediction in the context of dispersal distances.

CAPTION

Three wing specimens from the Royal Ontario Museum.

CREDIT

Photo by Santiago Claramunt. © Royal Ontario Museum

Strong opposition from food lobby to Transport for London advertising


New research shows how Transport for London faced strong opposition from large food companies to its 2019 ban on advertising foods high in fat, sugar or salt


Peer-Reviewed Publication

UNIVERSITY OF BATH

Even though 82% of the public welcomed Transport for London’s (TfL) 2019 ban on advertising foods high in fat, sugar or salt, the Greater London Authority (GLA) faced strong opposition from large food companies and the advertisers who run their campaigns. 

Small food businesses and those not primarily involved in the production of ultra-processed foods were largely in favour of the ban, which was introduced to create a healthier food environment for London’s children.

This is according to data acquired through Freedom of Information (FOI) requests, analysed by researchers at the University of Bath and published today [2 September] in PLOS Medicine.

The researchers found that opponents to the ban challenged it on multiple grounds, tried to increase their role in the policy process, and shared their own evidence with officials, while suppressing or undermining independent evidence that supported the policy.

Despite significant commercial opposition, the ban went ahead, which the researchers consider a positive precedent for other public authorities planning similar bans. Some, including Bristol, have already followed suit, and introduced advertising restrictions on advertising space they own. However, they warn other authorities to be vigilant to opposition from the food industry.

Attempts by corporations to derail marketing regulations for tobacco and alcohol are well-documented, and this research suggests that many of the tactics used by food companies are taken from the same ‘playbook’. These include direct lobbying, using coalitions to deliver their messaging and establish alternative routes for access, downplaying policy benefits, and exaggerating potential negative effects.

Companies and business groups fed into the policy process by responding to the public London Food Strategy consultation. Some were proactively encouraged by GLA officials to participate as part of their stakeholder engagement process, which included meetings with policymakers. The Freedom of Information data obtained by the researchers suggests that, in the lead-up to the introduction of the advertising ban, GLA officials had up to eight meetings or calls per month with large food and advertising industry representatives.

The London Child Obesity Taskforce, though not directly involved in the development of the restrictions, appeared to be seen as an important access point by companies. McDonald’s, for instance, contacted the Taskforce as early as April 2018 and later applied to become a member, although correspondence suggests that it was unsuccessful because it applied late.

While some meetings were formally listed as part of the consultation process, there were also informal interactions. Kentucky Fried Chicken (KFC), for instance, participated in multiple calls with the Taskforce and GLA staff, and invited a Taskforce member on a ‘magical mystery tour’ of London eateries and a tour of Brixton. The company also sent the same official an invitation to its annual ‘Restaurant General Manager Fest’.

Multiple emails suggest that KFC offered to collaborate with the Taskforce. However, the researchers could not determine the nature of the collaboration due to redactions and because minutes of the relevant meetings were not shared publicly.

Many respondents started their consultation submissions supportively – Uber Eats, for example, said it supported the Mayor’s plan to reduce obesity ‘in general’ and McDonald’s that it understood the need for regulation ‘in essence’ – but went on to oppose the ban.

While most food companies focused on claims that the policy would hurt smaller, more vulnerable businesses, Subway focused on the potential cost to its own business, estimating that the advertising restrictions would lead directly ‘to a reduction in footfall and business performance’. This contradicts other claims that the policy would not work to reduce consumption of unhealthy products.

Similarly, industry representatives warned that the policy would harm TfL and the local economy. In fact, TfL revenue increased slightly after the introduction of the advertising ban.

Not all business groups were fully transparent about their relationships. For instance, the British 
Takeaway Campaign lists Just Eat as a member, but its submission and public website failed to 
mention that it was founded by a PR agency on behalf of Just Eat.

Coalition-building was common, with advertising companies coalescing around advertising industry body Outsmart. Several companies referred to or used sections of the association’s response in their own statement.

Others attempted to undermine the restrictions by challenging the substantial evidence base without providing robust evidence of their own to back up these challenges. For example, the British Soft Drink Association claimed that ‘academic research has consistently failed to establish a direct link between food and drink marketing and childhood obesity, therefore we are not convinced by the proportionality of further restrictions.’

Similarly, McDonald’s argued that the evidence base was insufficient and offered to support ‘a London wide study of the causes of obesity’, with money and expertise.

Some companies and business associations shared research they had conducted or commissioned themselves. For example, emails suggest that KFC hired an agency to research ‘youth eating and snacking behaviour’ and invited officials to a research debrief at the offices of APCO, a registered lobbyist for KFC.

Outsmart and two other advertising industry members hinted at the potential for a legal challenge in their consultation responses. Outsmart wrote to GLA officials asking for the policy to be delayed by extending its implementation period, saying ‘we believe it would need to be at least six months after any policy announcement is made to prevent the threat of legal action’.

Speaking about the findings, the lead author Kathrin Lauber from the Tobacco Control Research 
Group at the University of Bath said: “The claims made by the industry actors who opposed the policy are largely not aligned with independent public health evidence but reminiscent of arguments commonly made in debates about the regulation of other unhealthy commodities such as tobacco and alcohol. Public health policymakers should rethink if and how they want to engage with companies whose commercial interests clearly stand in conflict with the policy objective.”

Dev Sharma, Chair of Bite Back 2030's Youth Board, said: “Billions are being spent giving junk food a starring role in children’s minds with advertising, marketing and promotions. I'm 16 and I’m being bombarded with junk food ads on my phone and computer, and I’m pretty sure it’s getting worse.

“They are everywhere, popping up when we’re watching videos, when I’m gaming with friends, and we don’t have an escape, especially not at the moment when we are living on our screens. It’s time to prioritise child health and take junk food out of the spotlight.”

Fran Bernhardt, Children’s Food Campaign Coordinator for Sustain, added: “This research uncovers companies’ enormous efforts to undermine and stall this policy. If only that resource and creativity could be redirected into healthier adverts, more time could be spent making local spaces better for all children to grow up in.

“As national junk food advertising restrictions come into play, companies may now be turning more attention to local advertising. So, it’s crucial that local government are aware of these tactics and have more support to put in place similar advertising policies to protect children’s health."

Caroline Cerny of the Obesity Health Alliance added: “It’s clear from this research that food 
companies put in phenomenal effort and resource to opposing a public health policy. What’s 
concerning is how much of this lobbying effort is conducted under the radar. It’s likely that the public lobbying we are seeing from industry against new Government plans to restrict junk food adverts on TV and online are also just the tip of the iceberg and it’s vital the Government sticks firmly to its plans to protect children from unhealthy food advertising.’

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To arrange interviews with Kathrin Lauber please email press@bath.ac.uk

Kathrin Lauber is a PhD student with the Tobacco Control Research Group at the University of Bath

For interviews with other partners involved see contacts below:

Dev Sharma is Chair of Bite Back 2030's Youth Board. Winner of the 2020 Diana Award for his work fighting food poverty, he is the Member of Youth Parliament for Leicestershire; email 
leigh.boobyer@biteback2030.com  

Fran Bernhardt is the children’s food campaign coordinator for Sustain: the alliance for better food and farming; email fran@sustainweb.org

Caroline Cerny is the alliance lead at Obesity Health Alliance; email 
press@obesityhealthalliance.org.uk

The paper: Lauber K, Hunt D, Gilmore A, Rutter H, ‘Corporate political activity in opposition to unhealthy food and drink advertising restrictions across Transport for London: A qualitative case 
study’ is published in PLOS Medicine: https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1003695

NOTES

The University of Bath is one of the UK's leading universities both in terms of research and our 
reputation for excellence in teaching, learning and graduate prospects.

The University is rated Gold in the Teaching Excellence Framework (TEF), the Government’s 
assessment of teaching quality in universities, meaning its teaching is of the highest quality in the UK.

In the Research Excellence Framework (REF) 2014 research assessment 87 per cent of our research was defined as ‘world-leading’ or ‘internationally excellent’. From developing fuel efficient cars of the future, to identifying infectious diseases more quickly, or working to improve the lives of female farmers in West Africa, research from Bath is making a difference around the world. Find out more: https://www.bath.ac.uk/topics/research/

Well established as a nurturing environment for enterprising minds, Bath is ranked highly in all 
national league tables. We are ranked 6th in the UK by The Guardian University Guide 2021, and 9th in The Times & Sunday Times Good University Guide 2021 and 10th in the Complete University Guide 2021. Our sports offering was rated as being in the world’s top 10 in the QS World University Rankings by Subject in 2021.

 

Managing ecosystems under climate change requires adaptive, translational approaches


Peer-Reviewed Publication

AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE (AAAS)

In a Perspective, Stephen Jackson argues that a static view of ecosystem processes is no longer sufficient to inform conservation and natural resource management approaches. As climate change continues unabated, the management of ecosystems vulnerable to transformation requires novel adaptive and translational approaches. According to Jackson, a science of “transformational ecology” is needed to address related challenges. In the face of our changing climate, landscapes worldwide are changing – temperate forests across the Northern Hemisphere are giving way to shrublands while new forests are beginning to take hold in the Arctic tundra. While these observable changes have received increasing scientific attention, much of it has focused on identifying tipping points between stable ecological states. However, ecological transformation is a highly dynamic and complex process and can occur gradually over a variety of timescales. What’s more, existing cultural, political, historical, and institutional barriers are deeply embedded in conservation practice and resource management, making changes in current approaches particularly difficult. Nonetheless, Jackson shows how adaptive learning, creative approaches and close partnerships between scientists, decisionmakers and stakeholders are needed to address the uncertainties imposed by shifting ecological states. “Ecosystem transformation will characterize the globe for the foreseeable future, and many ecosystems emerging today will be transient, yielding to further transformation as climate change continues and ecological processes at different temporal scales keep pace,” Jackson writes. “Implementing effective, adaptative approaches to understanding and managing those transformations is an urgent challenge for the scientific, management and policy communities.”

 

Rapid Arctic warming likely drives extreme winter weather events in the US


Peer-Reviewed Publication

AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE (AAAS)

Amid debate about the influence of changes in the Arctic on extreme weather elsewhere, a new study reports that rapid warming in the Arctic is a likely driver of the recent extreme winter weather in the United States. The findings, based on both observational and modeling data, establish a physical link between anthropogenic climate change and a phenomenon called the stratospheric polar vortex (SPV) disruption. While climate warming is anticipated to lead to increases in some weather extremes, including heat waves and precipitation events, it’s not widely considered to drive severe winter weather events. However, contrary to climate model predictions, winter weather extremes across the Northern Hemisphere – intense snowfall events and anomalous cold snaps – have reportedly become more frequent. One notable example of this is the U.S. Southern Plains cold wave of February 2021, which resulted in the collapse of the Texas energy grid and record damages estimated at nearly USD 200 billion, a cost substantially higher than recent high-impact hurricanes. It’s hypothesized that accelerated warming in the Arctic, or Arctic amplification (AA), is driving these events by disrupting the Arctic SPV – an atmospheric feature defined by the strong westerly winds that encircle the Arctic and, under normal conditions, keep its cold air contained. Whether AA and its impact on the SPV variability are physically linked to recent winter weather extremes has been unclear; observations and model predictions lack agreement. Building on previous work concerning SPV variability, Judah Cohen and colleagues combine observational analyses of the SPV over the last forty years with new climate model experiments. They reveal a physical link that implicates rapid Arctic warming and its effects, namely sea ice loss and increased Eurasian snow cover, with SPV disruption and the increased frequency of extreme mid-latitude winter weather. The results could be used to extend the warning lead time of cold extremes in Asia, Canada, and the United States, the authors say. “Future work should aim at further disentangling causal Arctic teleconnections for the cold and warm seasons in the mid-latitude regions, paying specific attention to high-impact extremes,” writes Dim Coumou in a related Perspective.

 

Cavalier King Charles spaniels carry more harmful genetic variants than other breeds


Genomic study also identified genetic variants linked to a common heart condition in the breed

Peer-Reviewed Publication

PLOS

Cavalier King Charles spaniels carry more harmful genetic variants than other breeds 

IMAGE: COMPARISONS OF DACHSHUNDS WITH AND WITHOUT SIGNS OF HEART DISEASE WERE USED TO HELP IDENTIFY MUTATIONS THAT POTENTIALLY PREDISPOSE CAVALIER KING CHARLES SPANIELS TO DEVELOP MMVD view more 

CREDIT: MÃ…NS ENGELBREKTSSON, SWEDISH KENNEL CLUB, CC-BY 4.0 (HTTPS://CREATIVECOMMONS.ORG/LICENSES/BY/4.0/)

Recent dog breeding practices have loaded up cavalier King Charles spaniels with disease-causing mutations, including variants linked to the common heart condition, myxomatous mitral valve disease (MMVD). Erik Axelsson of Uppsala University and colleagues published these new findings September 2nd in the journal PLOS Genetics.

The past 300 years of dog breeding have created an incredible diversity of breeds with various sizes, shapes, and abilities. Unfortunately, this process has also caused many breeds to become more inbred and more likely to inherit genetic diseases. The study's researchers wanted to know whether recent breeding practices had increased the number of disease-causing variants in dogs. They sequenced entire genomes from 20 dogs from eight common breeds, such as beagles, German shepherds, and golden retrievers. They found that the cavalier King Charles spaniel, which experienced the most intense breeding, carried more harmful genetic variants than the other breeds they examined.

The researchers also looked for genetic variants in the cavalier King Charles spaniel genomes linked to MMVD. In this condition, the mitral valve in the heart degenerates, allowing blood to leak from the left ventricle back into the left atrium. They identified two genetic variants linked to the disease, which appear to regulate a gene that codes for a common protein in heart muscle. The findings offer a potential explanation for why the cavalier King Charles spaniel is predisposed to develop the disease.

The especially large number of potentially harmful genes in the genomes of cavalier King Charles spaniels, compared to other dogs, likely resulted from its breeding history. Records suggest that small spaniel-type dogs have existed for at least 1,000 years and were popular at royal courts for several hundred years throughout Asia and Europe, including at the court of King Charles II (1630-1685).  These spaniels experienced several "bottlenecks" where only a small percentage of the population passed on their genes to the next generation. The bottlenecks may have made the harmful genes more common in the cavalier King Charles spaniel genome before the dog achieved recognition as a breed in 1945.

Axelsson adds, “We find that recent breeding may have led to an accelerated accumulation of harmful mutations in certain dog breeds. In the Cavalier King Charles spaniel specifically, one or several of these mutations affect heart muscle protein NEBL and may predispose this breed to devastating heart disease.”

 

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In your coverage please use this URL to provide access to the freely available article in PLOS Genetics:

http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009726

Citation: Axelsson E, Ljungvall I, Bhoumik P, Conn LB, Muren E, Ohlsson Ã…, et al. (2021) The genetic consequences of dog breed formation—Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels. PLoS Genet 17(9): e1009726. https://doi.org/10.1371/journal.pgen.1009726

Funding: Funding from Elanco (previously Novartis Animal Health) to KLT covered the generation of WGS data and parts of EA’s salary. Elanco (previously Novartis Animal Health) influenced the choice of dog breeds sequenced in this study, participated in data analysis and edited and reviewed the manuscript. Two grants from the Agria and SKK Research Foundation, one to IL (19969) and one to RH (P2011-0021), provided funding for sampling of dogs. EA was funded by a grant from the Swedish Research council (2016-03826) and a grant from FORMAS (2016-01312), both of which contributed to EA’s salary. KLT is a Distinguished Professor at the Swedish Research Council (D0816101). PB’s salary was funded by a Novartis postdoctoral fellowship (https://www.novartis.com/our-science/postdoc-program). With the exception of Elanco (see above) the funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.