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Genetic switch regulates transcription and replication in human mitochondria

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10 hours ago by Heather Zeiger Mitochondria. Credit: Wikipedia commons

(Phys.org)The majority of the human genome is located within the nucleus. However, there is a small but important portion of DNA located within the mitochondria. This mitochondrial DNA (mtDNA) has received much attention in the last few years for tracing ancestry, mitochondrial disease, and three-parent IVF. Mitochondrial DNA's unique properties mean that it has different regulatory mechanisms. A new study by Dmitry Temiakov from Rowan University reports for the first time evidence that mtDNA transcription and replication are regulated by a molecular switch that may provide insight into developmental processes such as embryogenesis and spermatogenesis. The results are reported in Science.

Mitochondrial DNA, unlike nuclear DNA, undergoes transcription and replication at the same location. The transcriptional proteins used to read the mitochondrial RNA (mtRNA) strand, made from the mtDNA, are different from the ones used in replication but occur at the same time and space, which could potentially result in a collision and subsequent problems in gene expression. Temiakov's group investigated whether TEFM, a mitochondrial transcription elongation factor that has been shown to escalate transcription activity in promoterless DNA, plays a role in regulating transcription and replication in the mitochondria.

Transcription in the mitochondria occurs at two locations, the light strand promoter and the heavy strand promoter. Prior studies have shown that transcription terminates early, about 120 base pairs before the light strand promoter, at a region of mtDNA found in most vertebrates, known as CSBII, or conserved sequence block II. A hybrid complex forms with the nascent RNA and the nontemplate strand of DNA.

This complex forms near the origin of the of the replication primer for the heavy strand, and will replicate two-thirds of the mtDNA on the heavy strand. It stops near the origin of the light strand. The now single light strand forms a hairpin structure that is recognized by the mitochondrial RNA polymerase as the signal to begin replication of the light strand.

Temiakov's group showed that in the presence of TEFM, the mitochondrial DNA polymerase does not stop at CSBII as it typically does in human mtDNA transcription, but continues transcribing through the CSBII section. Because TEFM prevents transcription termination, it also prevents the synthesis of the mtDNA polymerase primer that is used in replication. This finding provided one of several clues that TEFM acted to regulate replication and transcription in human mitochondrial DNA.

While conducting this study, the group inadvertently found that because their reference genome has a rare polymorphism in the CSBII region, they observed a decrease in efficiency of the transcription termination mechanism. They believe that the polymorphism disrupted the formation of the G-quadruplex, and that this G-quadruplex is involved in the CSBII mechanism.

Further investigations of how the G-quadruplex is involved in the TEFM mechanism showed that the TEFM interacts with the particular portions of the nascent RNA transcript. Temiakov's group believes that the TEFM interferes with the formation of the G-quadruplex, causing the hairpin structure to not form. This, in turn, does not signal to the mtRNA polymerase to begin replication.

Further studies showed that TEFM affects how well mtRNA polymerase is able to produce long transcripts. Without TEFM, shorter transcripts are formed, terminating at the CSBII region. TEFM increases processivity of mtRNA polymerase.

Temiakov concludes that TEFM serves as a switch that either "turns on" transcription, making it more efficient, or it "turns on" replication. This research indicates that replication and transcription are likely mutually exclusive processes in the human mitochondrial genome precluding the possibility that the transcription and replication processes will collide. Furthermore, this switch may be a key player in the developmental processes in which transcription of mtDNA occurs but not replication.

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Genetic switch regulates transcription and replication in human mitochondria

Retroviruses reveal mammalian genetics

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February 2, 2015

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Brett Smith for redOrbit.com Your Universe Online

Throughout our evolution, viruses have infected an egg or sperm, incorporated themselves into the genetic code and passed on to future generations. While these viruses appear to have no ill effects on us, some of them have been known to cause cancer and other health problems in other mammals.

For geneticists, these endogenous retroviruses (ERVs)serve another function they can reveal details about a species evolution and genetic diversity.

According to a new study published in the journal Retrovirology, humans have far fewer ERVs than other mammals, including close relatives like chimpanzees. The study team said this discrepancy was probably due to humans starting to use tools and weapons in conflicts as opposed to biting and scratching each other like our primate cousins.

Considering us simply as a primate species, the proportion of human individuals that are infected with retroviruses is much less than among our relatives such as chimpanzees, said Robert Belshaw, a genomics professor from Plymouth University in the United Kingdom.

In the study, the scientists analyzed the genetic signature of the two opposite sides of viruses in 40 mammalian species, including humans. These edges are very similar when the virus first incorporates itself into the genome, but as they get random mutations over time, they slowly start to diverge. By monitoring this split, the study team could see how long the retrovirus had been in an animals genome.

Using this gauge, they learned that far fewer retroviruses were included in the genome for humans and other great apes during the last 10 million years compared to other animals. Even compared to animals very similar to us, humans are abnormal in not getting any new kinds of retroviruses in their DNA over the last 30 million years.

Less blood means fewer viruses

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Retroviruses reveal mammalian genetics

New software analyzes human genomes faster than other available technologies

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Investigators at Nationwide Children's Hospital have developed an analysis "pipeline" that slashes the time it takes to search a person's genome for disease-causing variations from weeks to hours. An article describing the ultra-fast, highly scalable software was published in the latest issue of Genome Biology.

"It took around 13 years and $3 billion to sequence the first human genome," says Peter White, PhD, principal investigator and director of the Biomedical Genomics Core at Nationwide Children's and the study's senior author. "Now, even the smallest research groups can complete genomic sequencing in a matter of days. However, once you've generated all that data, that's the point where many groups hit a wall. After a genome is sequenced, scientists are left with billions of data points to analyze before any truly useful information can be gleaned for use in research and clinical settings."

To overcome the challenges of analyzing that large amount of data, Dr. White and his team developed a computational pipeline called "Churchill." By using novel computational techniques, Churchill allows efficient analysis of a whole genome sample in as little as 90 minutes.

"Churchill fully automates the analytical process required to take raw sequence data through a series of complex and computationally intensive processes, ultimately producing a list of genetic variants ready for clinical interpretation and tertiary analysis," Dr. White explains. "Each step in the process was optimized to significantly reduce analysis time, without sacrificing data integrity, resulting in an analysis method that is 100 percent reproducible."

The output of Churchill was validated using National Institute of Standards and Technology (NIST) benchmarks. In comparison with other computational pipelines, Churchill was shown to have the highest sensitivity at 99.7 percent; highest accuracy at 99.99 percent and the highest overall diagnostic effectiveness at 99.66 percent.

"At Nationwide Children's we have a strategic goal to introduce genomic medicine into multiple domains of pediatric research and healthcare. Rapid diagnosis of monogenic disease can be critical in newborns, so our initial focus was to create an analysis pipeline that was extremely fast, but didn't sacrifice clinical diagnostic standards of reproducibility and accuracy" says Dr. White. "Having achieved that, we discovered that a secondary benefit of Churchill was that it could be adapted for population scale genomic analysis."

By examining the computational resource use during the data analysis process, Dr. White's team was able to demonstrate that Churchill was both highly efficient (>90 percent resource utilization) and scaled very effectively across many servers. Alternative approaches limit analysis to a single server and have resource utilization as low as 30 percent. This efficiency and capability to scale enables population-scale genomic analysis to be performed.

To demonstrate Churchill's capability to perform population scale analysis, Dr. White and his team received an award from Amazon Web Services (AWS) in Education Research Grants program that enabled them to successfully analyze phase 1 of the raw data generated by the 1000 Genomes Project -- an international collaboration to produce an extensive public catalog of human genetic variation, representing multiple populations from around the globe. Using cloud-computing resources from AWS, Churchill was able to complete analysis of 1,088 whole genome samples in seven days and identified millions of new genetics variants.

"Given that several population-scale genomic studies are underway, we believe that Churchill may be an optimal approach to tackle the data analysis challenges these studies are presenting," says Dr. White.

The Churchill algorithm was licensed to Columbus-based GenomeNext LLC, which has built upon the Churchill technology to develop a secure and automated software-as-a-service platform that enables users to simply upload raw whole-genome, exome or targeted panel sequence data to the GenomeNext system and run an analysis that not only identifies genetic variants but also generates fully annotated datasets enabling filtering and identification of pathogenic variants. The company provides genomic data analysis solutions that simplify the process of data management and automate analysis of large scale genomic studies. The system was also developed with the research and clinical market in mind, offering a standardized pipeline that is well suited to settings where customers have to meet regulatory requirements.

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New software analyzes human genomes faster than other available technologies

Patent litigation over human gene breast cancer testing is ending

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The molecular diagnostics company that had won patents of two human genes that were invalidated by a landmark Supreme Court ruling has decided to abandon separate patent litigation surrounding how scientists study those genes.

The Supreme Court in 2013 struck down Myriad Genetics' patents of the human genes BRCA1 and BRCA2. Mutations of those genes have been linked to a higher risk of breast and ovarian cancer. The patents had given Myriad a monopoly over medical testing of those genes in a bid to detect early signs of cancer, often charging women $3,000 per test or more.

The court's decision opened the door to other companies offering cheaper tests. Myriad sued them, however, claiming that they were infringing on other Myriad patents that the Supreme Court did not invalidate.

But after some unfavorable court rulings, Utah-based Myriad has agreed to withdraw from the litigation. Settlements have included companies like Invitae, LabCorp and Pathway Genomics. More are to follow.

"We decided it was in the best interest of the company to settle these matters, Ronald Rogers, a Myriad spokesman, said.

The legal tussle began in 2009, when the American Civil Liberties Union sued Myriad on behalf of patients, researchers, and others. The civil rights group said that Myriad's patents, awarded more than a decade ago, were so broad that they prevented anybody from testing the genes without Myriad's permission.

The Supreme Court agreed.

"Indeed, Myriads patent descriptions highlight the problem with its claims. For example, a section of the 282patents Detailed Description of the Invention indicates that Myriad found the location of a gene associated withincreased risk of breast cancer and identified mutations of that gene that increase the risk, Justice Clarence Thomas wrote(PDF). He said isolated DNA is a product of nature and not patent eligible.

Sandra Park, a senior staff attorney with the ACLU's Women's Rights Project, said, "it's time for the US Patent Office to strictly enforce the prohibition on patenting products of nature moving forward."

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Patent litigation over human gene breast cancer testing is ending

Wellcome Trust builds 1,728-core grid for DNA analysis

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The Wellcome Trust Centre has deployed a high-performance computing cluster based on Fujitsu blades, Mellanox InfiniBand and DataDirect Networks storage systems to support statistical genetics research.

Designed in conjunction with OCF, a provider of high-performance computing (HPC), data management, big data storage and analytics, the cluster enables researchers to run statistical analysis on the human genome.

The hardware powers applications that analyse small genetic differences across a population of 1,000 people.

Fujitsu BX900 blade with Intel Ivy Bridge CPUs are used in the cluster, giving performance 2.6 times better than its predecessor, built in 2011.

It boasts 1,728 cores of processing power, up from the 912 of its forerunner, with 16GB of 1866MHz memory per core compared with a maximum of 8GB per core on the older cluster of the Wellcome Trust Centre for Human Genetics (WTCHG).

Robert Esnouf, head of the research computing core at WTCHG, said: If you are interested in a certain disease, you can partition the genome and analyse the genetic difference between those individuals who have a medical condition like diabetes and those that do not.

Processing power limits the number of people whose DNA makeup can be analysed statistically. But the more DNA that is analysed, the greater the accuracy of the statistical analysis.

Typically, a single human genome requires 30TB. Esnouf said that processing the DNA data of a thousand individuals requires a lot of I/O remapping.

He added: An individual may have thousands of different genetic variations. The more people you can get, the more chance you have of finding low-frequency genetic differences.

The new cluster works alongside a second production cluster; both clusters share a Mellanox FDR InfiniBand network that links the compute nodes to a DDN GridScaler SFA12K storage system whose controllers can read block data at 20Gbps. According to WTCHG this speed is essential for keeping the cluster at maximum utilisation and consistently fed with genomic data.

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Wellcome Trust builds 1,728-core grid for DNA analysis

Researchers pinpoint two genes that trigger severest form of ovarian cancer

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In the battle against ovarian cancer, UNC School of Medicine researchers have created the first mouse model of the worst form of the disease and found a potential route to better treatments and much-needed diagnostic screens.

Led by Terry Magnuson, PhD, the Sarah Graham Kenan Professor and chair of the department of genetics, a team of UNC genetics researchers discovered how two genes interact to trigger cancer and then spur on its development.

"It's an extremely aggressive model of the disease, which is how this form of ovarian cancer presents in women," said Magnuson, who is also a member of the UNC Lineberger Comprehensive Cancer Center. Not all mouse models of human diseases provide accurate depictions of the human condition. Magnuson's mouse model, though, is based on genetic mutations found in human cancer samples.

Mutations in two genes -ARID1A and PIK3CA -- were previously unknown to cause cancer. "When ARID1A is less active than normal and PIK3CA is overactive," Magnuson said, "the result is ovarian clear cell carcinoma 100 percent of the time in our model."

The research also showed that a drug called BKM120, which suppresses PI3 kinases, directly inhibited tumor growth and significantly prolonged the lives of mice. The drug is currently being tested in human clinical trials for other forms of cancer.

The work, published in the journal Nature Communications, was spearheaded by Ron Chandler, PhD, a postdoctoral fellow in Magnuson's lab. Chandler had been studying the ARID1A gene -- which normally functions as a tumor suppressor in people -- when results from cancer genome sequencing projects showed that the ARID1A gene was highly mutated in several types of tumors, including ovarian clear cell carcinoma. Chandler began researching the gene's precise function in that disease and found that deleting it in mice did not cause tumor formation or tumor growth.

"We found that the mice needed an additional mutation in the PIK3CA gene, which acts like a catalyst of a cellular pathway important for cell growth," Chandler said. Proper cell cycle regulation is crucial for normal cell growth. When it goes awry, cells can turn cancerous.

"Our research shows why we see mutations of both ARID1A and PIK3CA in various cancers, such as endometrial and gastric cancers," Chandler said. "Too little expression of ARID1A and too much expression of PIK3CA is the perfect storm; the mice always get ovarian clear cell carcinoma. This pair of genes is really important for tumorigenesis."

Magnuson's team also found that ARID1A and PIC3CA mutations led to the overproduction of Interleukin-6, or IL-6, which is a cytokine -- a kind of protein crucial for cell signaling that triggers inflammation. "We don't know if inflammation causes ovarian clear cell carcinoma, but we do know it's important for tumor cell growth," Chandler said.

Magnuson added, "We think that IL-6 contributes to ovarian clear cell carcinoma and could lead to death. You really don't want this cytokine circulating in your body."

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Researchers pinpoint two genes that trigger severest form of ovarian cancer

Modern languages show no trace of our African origins

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The evolution of human culture is often compared to biological evolution, and its easy to see why: both involve variation across a population, transmission of units from one generation to the next, and factors that ensure the survival of some variants and the death of others. However, sometimes this comparison fails. Culture, for instance, can be transmitted horizontally between members of the same generation, but genes cant.

Little is known about whether human demographic history generates patterns in linguistic data that are similar to those found in genetic data, write the authors of a recent paper in PNAS. Both linguistic and geneticdata can be used to draw conclusions about human history, but it's vital to understand how the forces affecting them differ in order to be sure that the conclusions we're drawing are accurate.

By conducting a large-scale analysis on global genetic and linguistic data, the researchers found that languages sometimes behave in ways very unlike genetics. For instance, isolated languages have more, not less, diversity, and languages don't retain the echo of a migration out of Africaunlike our genomes.

To conduct the analysis, the researchers focused on phonemes, which are the smallest linguistic units of sound that can distinguish meaning. For instance, English uses p and b to distinguish between the words pat and bat, which meansp and b act as phonemes. Other languages may not use these particular sounds to distinguish wordsor they may make finer distinctions, basing meaning differences on subtle changes like whether or not a puff of air follows the p.

Every language has a certain number of phonemes, and these phoneme inventories differ in size from language to language. The researchers compared information on global phoneme inventories with data on global genetics and geographic location in order to isolate how phonemic and genetic units track each other.

Some of their results were intuitive. They found that populations with greater geographical distance between them also had larger genetic and phonemic differences. Languages that come from the same family (like French and Italian) could be expected to have similar phoneme inventories, but the finding held true even for geographically close but historically unrelated languages.

However, some of their results were not quite as intuitive. When populations migrate, genetic diversity goes down, because thegroup thatmoves takes alongonly a portion of the gene pool of their originalpopulation. Isolated groups of people, who have no opportunity to mingle with other groups, therefore have limited genetic diversity. Language, on the other hand, shows the opposite pattern: languages with lots of close neighbors seem to be influenced by these neighbors, leading to less phonemic diversity over time. Isolated languages, on the other hand, change over the generations to become more diverse.

The most surprising finding was that, unlike genetic data, the human migration out of Africa has not left traces on modern linguistic data. This contradicts previous work in the field suggesting that, as with genetics, language diversity declines with distance from Africa, as a result of populations breaking off and moving farther away. The authors of the newpaper suggest that language changes faster than genetics, and it's less determined by the size and characteristics of a migrating population, leading to markedly different patterns in phonemic and genetic data.

This is a very interesting and important addition to the field, not only because it uses such a large database and introduces (relatively) new methods to the field, but also because of its findings, says Dr. Dan Dediu, who researches linguistics and genetics at the Max Planck Institute for Psycholinguistics in Nijmegen, The Netherlands.If its main finding survives replication with other databases and methods, then its a very powerful confirmation of the idea that demographic processes are one of the main driving forces behind both linguistic and genetic diversity."

It also highlights the fact that language and genes have different properties, especially when it comes to small, isolated communities and contact between populations, he adds.

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Modern languages show no trace of our African origins

Tool-making may have made language genes more useful

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Oldowan choppers dating to 1.7 million years ago, from Melka Kunture, Ethiopia.

Its widely understood that human genetics can influence culture, but increasingly, the idea that culture can also affect genetics is gaining ground. The theory of gene-culture coevolution suggests that the cultural practices we adopt change the costs and benefits of having certain genes, explains Catharine Cross, a researcher at the University of St Andrews. A gene that is advantageous under one cultural practice is not necessarily advantageous under another.

For example, yam cultivation in West Africa led to deforestation and an increase in standing water, which creates a breeding ground for mosquitoes and malaria. This meant that yam farmers with a particular genetic resistance to malaria were more likely to survive than farmers with susceptibility to malaria. Yam farmers in the region have been found to have a higher incidence of this genetic trait than nearby groupseven speakers of the same languagewho farm other crops.

A recent study published in Nature Communications has suggested that stone tool-making practices among the ancestors of modern humans may have put evolutionary pressure on individuals who werent very good at communicating, helping to select for the genes that would become involved in language.The study found that the use of verbal teaching, compared to learning by imitation, significantly improved the quality and speed production of stone tools. This suggests that individuals with gestural or verbal communication skills could have learned to make tools faster and better, giving them an advantage over individuals who could only imitate.

The researchers tested the difference in performance by using transmission chains, a method similar to the childrens game of telephone. The person who starts a chain passes on information to the next person, who then passes that information along, all the way down the chain. This can provide insight into how information changes when it is passed through generations of people.

In this case, the information being passed down the chain was the technique of creating Oldowan stone tools. These were the first stone tools to appear in the fossil record, approximately 2.5 million years ago, and were the predominant technology for approximately 700,000 years until more advanced Acheulean stone tools started to appear.

The first person in each chain was an experimenter skilled in the Oldowan method of hammering sharp flakes of flint off a central core. This person could pass information down the transmission chain in one of five ways. The first method, pure imitation, involved the teacher simply making the tools while the first participant watched, with no interaction.Three of the five transmission methods involved some sort of interaction: basic teaching, which allowed the teacher to slow their movements down or shape the participants grip; gestural teaching, which added in gestures; or verbal teaching, which allowed normal speech.Finally, the fifth method allowed the participant no contact at all with the teacherrather, they had to work out how to make the tools just by looking at examples produced by the teacher.

After a short learning period, the participant was required to pass on their new skills to the next participant in the chain using the same transmission method. Participants were paid more if they and their pupils produced more, higher-quality tools, so there was a strong motivation to learn and teach well. Each learning condition had six transmission chains, with 184 participants overall.

The results indicated that learning through teaching, rather than reverse engineering or imitation, had a marked influence on the results. Participants who experienced active instruction from their teachers produced more, better quality flakes at a higher speed, with fewer mistakes. Unsurprisingly, verbal instruction produced the best results, followed by gestural instruction and then basic teaching.

The results are important, write the researchers, because they help us to understand the language could have played inhuman ancestors during the period when Oldowan tools were in use. Its unlikely that Oldowan tools would have remained unchanged for 700,000 years if language had already emerged, they write. Thissuggests that imitation, which doesn't transmit information as efficiently, helped to maintain this long period of stasis. However, it also seems that individuals with better communicative abilities may have had better success at tool-making, contributing to the pressures that led to the evolution of language, and more advanced Acheulean tools.

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Tool-making may have made language genes more useful

Inaugural Allen Distinguished Investigator Life Science Symposium

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Researchers to showcase groundbreaking work in: Cellular decision-making, human accelerated regions, medical research and lineage barcodes

The Allen Distinguished Investigator program supports high-risk, high-reward ideas in science. Award recipients typically receive nearly $1 million or more for three years of research. Without the ADI program, many of these innovative research projects would go unfunded.

Monday, February 9th, Allen Distinguished Investigator awardees will gather in La Jolla, California at the Scripps Seaside Forum for an all-day symposium. It's a unique opportunity to hear how these researchers are breaking new ground and making an impact on science today and in the future.

Presentations will feature various key award focus areas.

Cellular Decision-Making:

Thierry Emonet, Yale University; Thomas Shimizu, FOM Institute for Atomic and Molecular Physics; Steven Zucker, Yale University: Crowd Computing with Bacteria: Balancing Phenotypic Diversity and Coordinated Behavior.

Hana El-Samad, University of California, San Francisco: Untangling the Wires: An Integrated Framework for Probing Signal Encoding and Decoding in Cellular Circuits.

Jeff Gore, Massachusetts Institute of Technology: Microbial Studies of Cellular Decision-making: Game Theory and the Evolutionary Origins of Cooperation.

Suckjoon Jun, University of California, San Diego: Cell-Size Control and its Evolution at the Single-Cell Level.

Human Accelerated Regions:

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Inaugural Allen Distinguished Investigator Life Science Symposium

Why Wolves Became Dogs

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There's a good reason why wolves became human companions long before domestic breeding turned them into everything from Great Danes to poodles, scientists in Vienna say.

They wanted to be our friends because underneath that furry hide they were a lot like us.

For several years, researchers at Vienna's University of Veterinary Medicine have been studying wolves that have been raised in captivity just like domesticated dogs, to see how they differ from the canine pets that are in so many of our homes. They have even established the Clever Dog Lab and the Wolf Science Center.

In a study published in the journal Frontiers in Psychology, researchers Friederike Range and Zsofia Viranyi offer their "Canine Cooperation Hypothesis."

According to the hypothesis, ancient wolves already possessed at least three social skills that made them suitable for human companionship: They were tolerant, attentive and cooperative.

Just like dogs.

And they were very social, running in packs, just like humans.

In the latest in a series of experiments, the researchers found that wolves can learn if a human has food, where it is stashed, and even if the human is just fooling.

If the human hid it behind a shed, the wolf went right to it, apparently because it had observed the human's actions. Dogs that participated in the same experiment were more likely to sniff their way to the food, not relying as much on their powers of observation.

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Why Wolves Became Dogs

Researchers discover genetic links to size of brain structures

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ATLANTA--Five genetic variants that influence the size of structures within the human brain have been discovered by an international team that included a Georgia State University researcher.

Their findings were reported this week in the journal Nature.

In the study led by Drs. Sarah Medland, Margie Wright, Nick Martin and Paul Thompson of the QIMR Berghofer Medical Research Institute in Australia, nearly 300 researchers analyzed genetic data and magnetic resonance imaging (MRI) scans from 30,717 individuals from around the world. They evaluated genetic data from seven subcortical brain regions (nucleus accumbens, caudate, putamen, pallidum, amygdala, hippocampus and thalamus) and intracranial volume from MRI scans.

This is the largest analysis of brain structure and genetics ever done, said Dr. Jessica Turner, associate professor of psychology and neuroscience at Georgia State, who organized some of the teams collecting and evaluating data from participants with schizophrenia.

The goal was to determine how common genetic variants affect the structure of these seven subcortical brain regions, which are associated with memory, movement, learning and motivation. Changes in these brain areas can lead to abnormal behavior and predisposition to disease.

Previous research has shown the brain's structure is strongly shaped by genetic influences. Identifying genetic variants could provide insight into the causes for variation in human brain development and help to determine how dysfunction in the brain occurs.

"The team looked at several million base pairs or locations on the human genome," Turner said. "Through a large-scale, international data sharing and data-analysis-sharing effort, we were able to actually successfully identify genetic effects on the hippocampus, putamen and other brain regions that no one had ever successfully identified genetics effects on before."

The researchers discovered five new genetic variants that influenced the volumes of the putamen and caudate nucleus. They also found stronger evidence for three locations in the genome that influence the size of the hippocampus and intracranial areas of the brain. The strongest genetic effects were observed for the putamen.

"Those are brain regions," Turner said, "that we know are involved in various psychiatric and neurodegenerative disorders. In trying to figure out the genetics that make them either larger or smaller, it could have great benefits for understanding mechanisms of these disorders."

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Genetics Society of America names Louisa Stark as recipient of Elizabeth W. Jones Award

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BETHESDA, MD - The Genetics Society of America (GSA) is pleased to announce that Louisa A. Stark, PhD (University of Utah) has been awarded the Society's Elizabeth W. Jones Award for Excellence in Education in recognition of her significant and sustained impact in genetics education. The award, whose namesake was a renowned geneticist and educator, honors the remarkable advances in global access to genetics education enabled by Dr. Stark's work.

"Dr. Stark has pioneered innovative approaches and resources that have transformed the accessibility of genetics education," said Robin Wright, PhD, Head of the Department of Biology Teaching and Learning, Professor in the Department of Genetics, Cell Biology and Development, and Senior Associate Dean for Undergraduate Initiatives in the College of Biological Sciences at the University of Minnesota, and last year's winner of the Elizabeth W. Jones Award. "Her work will undoubtedly continue to inspire teachers and students for years to come."

Dr. Stark has had a major impact on improving genetics literacy worldwide. She has 20 years of experience in planning and teaching professional development programs for K-12 teachers. The University of Utah Genetic Science Learning Center, which she directs, excels at developing interactive, multimedia materials that focus on making genetics easy for everyone to understand. These materials are freely disseminated via the Center's Learn.Genetics and Teach.Genetics websites. The sites constitute the most widely-used online genetics education resource in the world. In 2014, they were visited by almost 20 million students, educators, scientists, and members of the public who came from every country. With over 80 million page views annually, Learn.Genetics is among the most used sites on the Web. In 2010, the sites received the first award of the Science Prize for Online Resources in Education from AAAS/Science Magazine. Stark's work also has been recognized by awards from the American Society of Human Genetics, the governor of Utah, the National Association of Biology Teachers, and the Utah Science Teachers Association.

The Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. Recipients of the award have promoted greater exposure to and deeper understanding of genetics through distinguished teaching or mentoring, development of innovative pedagogical approaches or tools, design of new courses or curricula, national leadership, and/or public engagement and outreach.

The award was named posthumously for Elizabeth W. Jones (1939-2008), the recipient of the first GSA Excellence in Education Award in 2007. She was a renowned geneticist and educator who served as the 1987 GSA president and as Editor-in-Chief of GSA's journal GENETICS for almost 12 years (1996-2008).

To learn more about the GSA awards, and to view a list of previous recipients, please see http://www.genetics-gsa.org/awards.

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About the Genetics Society of America (GSA)

Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Society's more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

9650 Rockville Pike | Bethesda, MD 20814 | 301.634.7300 | press@genetics-gsa.org">press@genetics-gsa.org | http://www.genetics-gsa.orgConnect with GSA on Twitter (@GeneticsGSA) | Facebook LinkedIn | Google+

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Genetics Society of America names Louisa Stark as recipient of Elizabeth W. Jones Award


  1. Human Genetics