"The Government has run a comprehensive and transparent process over the lifetime of this Parliament to review the public acceptability of mitochondrial donation and the ongoing evidence of safety and efficacy of the new techniques involved, said public health minister Jane Ellison in a written statement.

The time is now right to give Parliament the opportunity to consider and vote on these regulations.

Around one in every 200 babies born in the UK has a severe mitochondrial disease. Although rare, the disorders can be passed to future generations through the maternal line.

Examples of mitochondrial diseases include conditions that cause muscle wasting, nerve damage, loss of sight and heart failure.

Chief Medical Officer, Professor Dame Sally Davies said: Mitochondrial donation will give women who carry severe mitochondrial disease the opportunity to have children without passing on devastating genetic disorders.

It will also keep the UK at the forefront of scientific development in this area.

If the new laws are voted in, it will be up to the fertility regulator, the Human Fertilisation and Embryology Authority (HFEA), to decide whether a treatment can go ahead on a case-by-case basis.

Mitochondrial transfer will only be allowed when there is a "significant risk" of disability or serious illness.

Children born after mitochondrial transfer will not be entitled to discover the identity of the "third parent" donor.

While many doctors and scientists applaud the move, pointing out that it could eliminate terrible diseases, critics argue "mitochondrial transfer" could lead to designer babies.

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Three parent babies given green light by government

In this image made available by the Oregon Health and Science University, a faint white blotch in the tube at right is DNA that has been removed from a human egg, center. The red dot is from a laser used in the procedure. Scientists have successfully transplanted DNA between human eggs and grown them into early embryos. Someday that technique that may let children avoid inheriting certain diseases - and give them genes from another woman besides mom. AP Photo/Oregon Health & Science University

LONDON -- New rules proposed in Britain would make it the first country to allow embryos to be made from the DNA of three people in order to prevent mothers from passing on potentially fatal genetic diseases to their babies.

In a statement issued on Wednesday, the department of health said it had taken "extensive advice" on the safety and efficacy of the proposed techniques from the scientific community.

"(This) will give women who carry severe mitochondrial disease the opportunity to have children without passing on devastating genetic disorders," Dr. Sally Davies, the U.K.'s chief medical officer, said in a statement.

Experts say that if approved by parliament, these new methods would likely be used in about a dozen British women every year who are known to have faulty mitochondria - the energy-producing structures outside a cell's nucleus. Defects in the mitochondria's genetic code can result in diseases such as muscular dystrophy, heart problems and mental retardation.

Use of the "three-parent" in-vitro fertilization (IVF) technique is also under consideration in the United States, but it has not been approved by federal regulators. In February, the U.S. Food and Drug Administration held a two-day meeting to explore the scientific, clinical and ethical issues involved. Some scientists warned it could take decades to determine if the process is safe.

The techniques involve removing the nucleus DNA from the egg of a prospective mother and inserting it into a donor egg, where the nucleus DNA has been removed. That can be done either before or after fertilization.

The resulting embryo would end up with the nucleus DNA from its parents but the mitochondrial DNA from the donor. Scientists say the DNA from the donor egg amounts to less than 1 percent of the resulting embryo's genes. But the change will be passed onto future generations, a major genetic modification that many ethicists have been reluctant to endorse.

Critics say the new techniques are unnecessary and that women who have mitochondrial disorders could use other alternatives, such as egg donation, to have children.

"Medical researchers are crossing the crucial ethical line that will open the door to designer babies," said David King of Human Genetics Alert, a secular group that opposes many genetics and fertilization research.

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U.K. may allow embryos with DNA from 3 parents

PUBLIC RELEASE DATE:

16-Dec-2014

Contact: Sue McGreevey smcgreevey@partners.org 617-724-2764 Massachusetts General Hospital @MassGeneralNews

Massachusetts General Hospital (MGH) investigators have developed a method of detecting, across the entire genome of human cells, unwanted DNA breaks induced by use of the popular gene-editing tools called CRISPR-Cas RNA-guided nucleases (RGNs). Members of the same team that first described these off-target effects in human cells describe their new platform, called Genome-wide Unbiased Indentification of DSBs Evaluated by Sequencing (GUIDE-seq), in a report being published online in Nature Biotechnology.

"GUIDE-seq is the first genome-wide method of sensitively detecting off-target DNA breaks induced by CRISPR-Cas nucleases that does not start with the assumption that these off-target sites resemble the targeted sites," says J. Keith Joung, MD, PhD, associate chief for Research in the MGH Department of Pathology and senior author of the report. "This capability, which did not exist before, is critically important for the evaluation of any clinical use of CRISPR-Cas RGNs."

Used to cut through a double strand of DNA in order to introduce genetic changes, CRISPR-Cas RGNs combine a bacterial gene-cutting enzyme called Cas9 with a short RNA segment that matches and binds to the target DNA sequence. In a 2013 Nature Biotechnology paper, Joung and his colleagues reported finding that CRISPR-Cas RGNs could also induce double-strand breaks (DSBs) at sites with significant differences from the target site, including mismatches of as many as five nucleotides. Since such off-target mutations could potentially lead to adverse effects, including cancer, the ability to identify and eventually minimize unwanted DSBs would be essential to the safe clinical use of these RGNs, the authors note.

The method they developed involves use of short, double-stranded oligonucleotides that are taken up by DSBs in a cell's DNA, acting as markers of off-target breaks caused by the use of CRISPR-Cas. Those tags allow the identification and subsequent sequencing of those genomic regions, pinpointing the location of off-target mutations. Experiments with GUIDE-seq showed it was sensitive enough to detect off-target sites at which CRISPR RGNs induced unwanted mutations of a gene that occur with a frequency of as little as 0.1 percent in a population of cells. These experiments also revealed that, since many such mutations took place at sites quite dissimilar from the targeted site, no easy rules would predict the number or location of off-target DSBs.

Two existing tools designed to predict off-target mutations by analysis of the target sequence were much less effective than GUIDE-seq in predicting confirmed off-target sites and also misidentified sites that did not prove to have been cut by the enzyme. Comparing GUIDE-seq with a tool called ChIP-seq - which identifies sites where proteins bind to a DNA strand - confirmed that ChIP-seq does not provide a robust method for identifying CRISPR-Cas-induced DSBs.

GUIDE-seq was also able to identify breakpoint hotspots in control cell lines that were not induced to express the CRISPR RGNs. "Various papers have described fragile genomic sites in human cells before," Joung notes, "but this method may be the first to identify these sites without the addition of drugs that enhance the occurrence of such breaks. We also were surprised to find those breaks occurred largely at different sites in the two cell lines used in this study. The ability to capture these RGN-independent breaks suggests that GUIDE-seq could be a useful tool for studying and monitoring DNA repair in living cells."

In addition, GUIDE-seq was able to verify that an MGH-developed approach for improving the accuracy of CRISPR-Cas by shortening the guiding RNA segment reduced the number of DSBs throughout the genome. Joung also expects that GUIDE-seq will be useful in identifying off-target breaks induced by other gene-editing tools. Along with pursuing that possibility, he notes the importance of investigating the incidence and detection of off-target mutations in human cells not altered to create cell lines - a process that transforms them into immortalized cancer cells. Understanding the range and number of off-target mutations in untransformed cells will give a better picture of how CRISPR-Cas RGNs and other tools would function in clinical applications.

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The sequencing of genomes of 48 bird species explains the evolutionary roots of vocalization and could offer insight into human speech disorders

Zebra finch offers clues to the evolution of vocalization. Credit: Peripitus/Wikimedia Commons

Songbirds stutter, babble when young, become mute if parts of their brains are damaged, learn how to sing from their elders and can even be "bilingual"in other words, songbirds' vocalizations share a lot of traits with human speech. However, that similarity goes beyond behavior, researchers have found. Even though humans and birds are separated by millions of years of evolution, the genes that give us our ability to learn speech have much in common with those that lend birds their warble.

A four-year long effort involving more than 100 researchers around the world put the power of nine supercomputers into analyzing the genomes of 48 species of birds. The results, published this week in a package of eight articles in Science and 20 papers in other journals, provides the most complete picture of the bird family tree thus far. The project has also uncovered genetic signatures in song-learning bird brains that have surprising similarities to the genetics of speech in humans, a finding that could help scientists study human speech.

The analysis suggests that most modern birds arose in an impressive speciation event, a "big bang" of avian diversification, in the 10 million years immediately following the extinction of dinosaurs. This period is more recent than posited in previous genetic analyses, but it lines up with the fossil record. By delving deeper into the rich data set, research groups identified when birds lost their teeth, investigated the relatively slow evolution of crocodiles and outlined the similarities between birds' and humans' vocal learning ability, among other findings.

The vocal learning discoveries could have important implications for the study of human speech and its disorders. If the genes are similar, "you can study in song birds and test their function in a way you can't do in humans," says Erich Jarvis, one of the leaders of the international effort and an associate professor of neurobiology at Duke University.

Scientists have long used songbirds, typically zebra finches, to probe questions about how language can be learned because not many other species have this ability. "Among primates, Homo sapiens are the only species that can modify vocalization," says Stephanie White, a neuroscientist and professor of integrative biology and physiology at the University of California, Los Angeles, who was not involved in the new research.

That's not to say that other primates don't communicate vocally, but White explains that the grunts, screeches and hoots uttered by chimpanzees, for example, are more automatic. Although an older, bigger chimp may have a deeper voice, "a young chimp and an old chimp sound pretty much the same," she says. Humans and songbirds, on the other hand, progress from baby talk to complex vocalizations. The handful of other species with this abilitythe vocal learnersincludes dolphins, sea lions, bats and elephants.

The new work on vocal learning relied on laser dissection of brain regions of zebra finches known to be involved in vocalizations and then analysis of gene activity there. The researchers then compared those levels to gene expression levels in human brains. They found that humans and birds share 55 genes between brain regions important for vocal learning, a good handful of which were involved in forming connections between neurons. Analysis of genes in other avian vocal learners parrots and hummingbirdsechoed the finding.

Another paper shows that 10 percent of the genome in song-learning birds is dedicated to song. White, who found both papers to be "very powerful," explains that these genes are actively regulated during vocalization. In humans, a simple phone conversation is actually an intensely focused activity that sets off cascades gene regulation across the brain, she says.

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Massive Genetic Effort Confirms Bird Songs Related to Human Speech

Common methods used in human genetics analysis
Human genetics Human matings, like those of experimental organisms, show inheritance patterns both of the type discovered by Mendel (autosomal inheritance) and of sex linkage. Because controlled.

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Creationism. Human Genetics Confirms the Bible. Dr. Robert Carter
Origins With Dr. Robert Carter #39; #39;Genetics Adam Our Ancestor #39; #39; Geneticist Dr. Robert Carter gives incredible DNA evidence that entire human population came f...

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Media reports about behavioural genetics unintentionally induce unfounded beliefs, therefore going against the educational purpose of scientific reporting, writes the University of Montreals Alexandre Morin-Chass, following his study of 1,500 Americans. Among other things, we wanted to know if the public understood (or misunderstood) popular science articles about a new research field, genopolitics, and whether this popularization indeed helped people have an informed opinion on human genetics, Morin-Chass explained.

The study participants first had to read a news article about research on the influence of a gene on one of the following three traits: breast cancer, political ideology (liberal or conservative), or the tendency to go into debt. After reading the article assigned to them, they were then asked to estimate the influence of genetics on various biological (e.g., hair colour, height) or behavioural (e.g., violence, alcoholism) traits on a scale from 0% genetic to 100% genetic. They were told that there were no right or wrong answers. The purpose of the study was simply to examine the interpretation of facts.

The conclusions were troubling, to say the least. Morin-Chass observed that after reading an article published in the British Daily Telegraph in October 2010 about a "gene responsible for liberal ideas, the readers tended to generalize the influence of genetics to other behaviours or social orientations of which there was no mention in the news article (including sexual orientation and intelligence). The same phenomenon was observed among the readers of the other article, originally published in the Scientific American Mind magazine in June 2010, which associated a gene with susceptibility to debt.

However, public misunderstanding is not the only thing to blame for this misinterpretation. Generally, science reporters first goal is to inform the public about scientific developments. However, this practice is not disinterested; some news is purposely written in a manner intended to catch the publics attention with startling results in order to increase or to maintain market shares," Morin-Chass explained.

Genetic research into behaviour is certainly a minefield. It is often associated with other more controversial theoretical work, for example, in sociobiology, which attempts to explain social inequalities using the theory of evolution and the concept of natural selection. In contrast, current trends in research are based on empirical analysis of DNA data.

"Personally, I am in favour of this innovative approach to better understand our world, but I cant argue with the facts: the field is often misunderstood or even disregarded, Morin-Chass said. Some reduce it to its most deterministic form. The danger, which, in my mind, is present, is that scientific research findings could be manipulated for ideological purposes by certain social groups. Hence the importance of making sure the public understands the scope and limitations of such research.

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The above story is based on materials provided by Universit de Montral. Note: Materials may be edited for content and length.

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Current practices in reporting on behavioural genetics can mislead the public

PUBLIC RELEASE DATE:

11-Dec-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston

EMBARGOED for release Thursday, Dec. 11, 2014, at 12 p.m. ET

HOUSTON - (Dec. 11, 2014) - The ancient Japanese art of origami is based on the idea that nearly any design - a crane, an insect, a samurai warrior - can be made by taking the same blank sheet of paper and folding it in different ways.

The human body faces a similar problem. The genome inside every cell of the body is identical, but the body needs each cell to be different -an immune cell fights off infection; a cone cell helps the eye detect light; the heart's myocytes must beat endlessly.

Appearing online this week in the journal Cell, researchers at Baylor College of Medicine, Rice University, the Broad Institute of MIT and Harvard, and Harvard University describe the results of a five-year effort to map, in unprecedented detail, how the 2-meter long human genome folds inside the nucleus of a cell. Their results show that the cell-- like a microscopic origamist - modulates its function by folding the genome into an almost limitless variety of shapes.

A centerpiece of the new study is the first reliable catalog of loops spanning the entire human genome. For decades, scientists have examined the regions in the close vicinity of a gene to understand how it is regulated. But as the genome folds, sequences far from a gene loop back and come in contact with those nearby elements.

Looping has been a blind spot for modern biology. "For over a century, scientists have known that DNA forms loops inside of cells, and that knowing where the loops are is incredibly important," said co-first author Suhas Rao, a researcher at the Center for Genome Architecture at Baylor. "But mapping the positions of all those loops was long thought to be an insurmountable challenge."

The researchers showed that the 3 billion DNA letters of the human genome are partitioned into roughly 10,000 loops, a surprisingly small number. (Prior work on loops had suggested that the genome contains over a million.)

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Newswise (SALT LAKE CITY) Examination of DNA from 21 primate species from squirrel monkeys to humans exposes an evolutionary war against infectious bacteria over iron that circulates in the hosts bloodstream. Supported by experimental evidence, these findings, published in Science on Dec. 12, demonstrate the vital importance of an increasingly appreciated defensive strategy called nutritional immunity.

Weve known about nutritional immunity for 40 years, says Matthew Barber, Ph.D., first author and postdoctoral fellow in human genetics at the University of Utah. What this study shows us is that over the last 40 million years of primate evolution, this battle for iron between bacteria and primates has been a determining factor in our survival as a species. The study also models an approach for uncovering reservoirs of genetic resistance to bacterial infections, knowledge that could be used to confront emerging diseases.

Following infection, the familiar sneezing, runny nose, and inflammation are all part of the immune systems attempts to rid the body of hostile invaders. Lesser known is a separate defense against invasive microbes, called nutritional immunity, that quietly takes place under our skin. This defense mechanism starves infectious bacteria by hiding circulating iron, an essential nutrient it needs for survival. The protein that transports iron in the blood, transferrin, tucks the trace metal safely out of reach.

Clever as it sounds, the ploy is not enough to keep invaders at bay. Several bacterial pathogens - including those that cause meningitis, gonorrhea, and sepsis - have developed a weapon, transferrin binding protein (TbpA), that latches onto transferrin and steal its iron. Though scientists have known of the offensive strategy, they failed to realize how pivotal the battle over iron has been in the conflict between host and pathogen.

Interactions between host and pathogen are transient and temporary, says senior author Nels Elde, Ph.D., assistant professor of human genetics at the University of Utah. It took casting a wide net across all of primate genetic diversity to capture the significance.

Just as details of a struggle can be gleaned from battle scars, Barber and Elde reconstructed this evolutionary conflict by documenting when and where changes in transferrin and TbpA have occurred over millennia. They examined the DNA of transferrin in 21 species from the primate family tree, and of TbpA from dozens of bacterial strains. The majority of accumulated changes in transferrin and TbpA cluster around a single region of contact between the two proteins, highlighting it as a site of evolutionary conflict between host and pathogen. The authors then used these genetic observations as a guide to perform experiments, which showed changes in TbpA enable the protein to grasp hold of transferrin, and that recent changes in transferrin allow it to evade TbpA.

Up to 25 percent of people in the worlds populations have a small alteration in the transferrin gene, which prevents recognition by several infectious bacteria, the most recent sign of this long battle. Up until this study no one had come up with a functional explanation for why this variation occurs at an appreciable frequency in human populations, says Elde. We now know that it is a consequence of the pathogens we and our ancestors faced over millions of years.

Understanding the strategies that underlie natural defense mechanisms, including nutritional immunity, could inform new approaches to combatting antibiotic-resistant bacteria and emerging diseases. By examining the natural conflicts that have played out for millions of years, we can determine what has worked, and apply them in new situations, says Elde.

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Human DNA Shows Traces of 40 Million-Year Battle For Survival Between Primate and Pathogen

A pedestrian walks outside a Merck & Co. facility in Summit, New Jersey.

A human trial of an experimental Ebola vaccine recently licensed by Merck & Co. has been suspended until January after four healthy volunteers receiving it experienced mild joint pain, according to a Geneva hospital helping conduct the trial.

As a precautionary measure, the study team has declared a pause in the injections, the hospital said. It added that joint pain after infection or vaccination is a well-documented phenomenon which does not worry specialists. However, it deserves to be carefully studied. The hospital said the vaccine overall has been very well tolerated among the 59 people who have received it in Geneva.

Merck agreed in November to pay NewLink Genetics Corp. NLNK, -3.96% of Ames, Iowa, $30 million for the rights to the vaccine, plus an additional $20 million and royalties on sales if the vaccine meets certain development targets.

Merck MRK, -0.32% , of Whitehouse Station, N.J., said in a statement that it was aware the study had been placed on a temporary hold after transient complaints of joint pain in Geneva. These events have not been reported at any of the other clinical sites, the company added. It is not known at this time whether these events are related to the vaccine or not. We understand the level of vaccine being administered in the trial, which is being conducted at a number of other sites, will proceed using lower doses of the vaccine.

NewLink didnt immediately respond to a request for comment.

An expanded version of this report appears at WSJ.com.

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The Wall Street Journal: Human trial of experimental Merck Ebola vaccine is suspended

PUBLIC RELEASE DATE:

11-Dec-2014

Contact: John Wallace wallacej@vcu.edu 804-628-1550 Virginia Commonwealth University @vcunews

Targeted therapies are a growing and groundbreaking field in cancer care in which drugs or other substances are designed to interfere with genes or molecules that control the growth and survival of cancer cells. Now, scientists at Virginia Commonwealth University Massey Cancer Center and VCU Institute of Molecular Medicine (VIMM) have identified a novel interaction between a microRNA and a gene that could lead to new therapies for the most common and deadly form of brain tumor, malignant glioma.

In a study recently published in the journal Neuro-Oncology, a team of scientists led by Luni Emdad, M.B.B.S., Ph.D., and Paul B. Fisher, M.Ph., Ph.D., provided the first evidence of an important link between a specific microRNA, miR-184, and a cancer promoting gene, SND1, in the regulation of malignant glioma. miR-184 is known to suppress tumor development by regulating a variety of genes involved in cancer growth, while SND1 has been shown to play a significant role in the development of breast, colon, prostate and liver cancers. Through a variety of preclinical experiments, the team demonstrated that increasing the expression of miR-184 slows the growth and invasive characteristics of glioma cells through direct regulation of SND1. Additionally, they showed that reduced levels of SND1 led to reduced levels of STAT3, a gene that has been shown to promote the most lethal characteristics of brain cancer.

"Patients suffering from brain tumors are in desperate need of improved therapies," says Fisher, Thelma Newmeyer Corman Endowed Chair in Cancer Research and co-leader of the Cancer Molecular Genetics research program at VCU Massey Cancer Center, chairman of the Department of Human and Molecular Genetics at VCU School of Medicine and director of the VIMM. "We're hopeful that this new understanding of the relationship between miR-184 and SND1 ultimately will lead to the development of new drugs that reduce SND1 expression and improve patient outcomes."

Prior studies have shown that levels of miR-184 are unusually low in tissue samples from patients with malignant gliomas. Using advanced computer analysis techniques designed to study and process biological data, the researchers identified SND1 among a handful of other genes that miR-184 helps regulate. Knowing SND1 is implicated in a variety of cancers and having previously defined its role in liver cancer, Emdad, Fisher and their colleagues explored this relationship further. They confirmed low levels of miR-184 expression in human glioma tissue samples and cultured cell lines as well as an increase in the expression of SND1 compared to normal brain tissue. Using data from a large public brain tumor database called REMBRANDT, the researchers confirmed that patients with lower levels of SND1 survived longer than those with elevated SND1 expression.

"We still have a long way to go and many challenges to overcome before we will have therapies that are ready for clinical use, but this is a significant first step in the process," says Emdad, member of the Cancer Molecular Genetics research program at Massey, assistant professor in the VCU Department of Human and Molecular Genetics and member of the VIMM. "Future studies will aim to explore the relationship between SND1 and STAT3, identify additional microRNAs that may be relevant to malignant glioma and explore the effects of drugs that block SND1 expression in more advanced preclinical models."

###

Fisher and Emdad collaborated with Devanand Sarkar, M.B.B.S., Ph.D., Harrison Scholar and member of the Cancer Molecular Genetics research program at Massey, Blick Scholar and associate professor in the Department of Human and Molecular Genetics at the VCU School of Medicine and member of the VIMM; Swadesh K. Das, Ph.D., member of the Cancer Molecular Genetics research program at Massey, member of the VIMM and assistant professor in the VCU Department of Human and Molecular Genetics; Mitchell E. Menezes, Ph.D., Prasanna K. Santhekadur, Ph.D., and Bin Hu, Ph.D., all postdoctoral research scientists in the VCU Department of Human and Molecular Genetics; and Aleksandar Janjic, Mohammad Al-Zubi and Xue-Ning Shen, all research technicians in the VCU Department of Human and Molecular Genetics and the VIMM.

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Scientists define important gene interaction that drives aggressive brain cancer

Image: Wikimedia Commons Oscar Wergeland

Vikings may have been family men who traveled with their wives to new lands, according to a new study of ancient Viking DNA.

Maternal DNA from ancient Norsemen closely matches that of modern-day people in the North Atlantic isles, particularly from the Orkney and Shetland Islands.

The findings suggest that both Viking men and women sailed on the ships to colonize new lands. The new study also challenges the popular conception of Vikings as glorified hoodlums with impressive seafaring skills.

"It overthrows this 19th century idea that the Vikings were just raiders and pillagers," said study co-author Erika Hagelberg, an evolutionary biologist at the University of Oslo in Norway. "They established settlements and grew crops, and trade was very, very important."

Vikings hold a special place in folklore as manly warriors who terrorized the coasts of France, England and Germany for three centuries. But the Vikings were much more than pirates and pillagers. They established far-flung trade routes, reached the shores of present-day America, settled in new lands and even founded the modern city of Dublin, which was called Dyfflin by the Vikings.

Some earlier genetic studies have suggested that Viking males traveled alone and then brought local women along when they settled in a new location. For instance, a 2001 study published in the American Journal of Human Genetics suggested that Norse men brought Gaelic women over when they colonized Iceland.

To learn more about Norse colonization patterns, Hagelberg and her colleagues extracted teeth and shaved off small wedges of long bones from 45 Norse skeletons that were dated to between A.D. 796 and A.D. 1066. The skeletons were first unearthed in various locations around Norway and are now housed in the Schreiner Collection at the University of Oslo.

The team looked at DNA carried in the mitochondria, the energy powerhouses of the cell. Because mitochondria are housed in the cytoplasm of a woman's egg, they are passed on from a woman to her children and can therefore reveal maternal lineage. The team compared that material with mitochondrial DNA from 5,191 people from across Europe, as well as with previously analyzed samples from 68 ancient Icelanders.

The ancient Norse and Icelandic genetic material closely matched the maternal DNA in modern North Atlantic people, such as Swedes, Scots and the English. But the ancient Norse seemed most closely related to people from Orkney and Shetland Islands, Scottish isles that are quite close to Scandinavia.

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Genetics show Viking women colonized new lands, too

Huntington Willard, an innovative leader in the fields of genetics and genome biology who has built comprehensive research centers at leading institutions, has been appointed the next president and director of the Marine Biological Laboratory in Woods Hole, Mass.

President Robert J. Zimmer, who is also chairman of the MBLs Board of Trustees, announced the appointment to the MBL and University communities. MBL is an affiliate of the University of Chicago, a relationship designed to yield novel avenues for scientific discovery and education at both institutions.

At the MBL, Willard will lead one of the worlds foremost centers for biological research, international collaboration and education. Willard, currently the Arts & Sciences Professor of Biology and Genome Sciences at Duke University, will begin his appointment at the MBL on Jan. 1, 2015.

Willard has earned a reputation as a groundbreaking scientist, a strong leader and builder of complex academic initiatives, as well as a talented educator who has received multiple teaching awards. From 2003 to 2014 he was the founding director of the Duke Institute for Genome Sciences and Policy, a highly interdisciplinary unit that spanned the life sciences, engineering, medicine, social sciences and the humanities. For that program, Willard recruited 35 faculty members to Duke across 21 departments and established broad institutional strength in the genome sciences. He had previously chaired the Department of Genetics at Case Western Reserve University, where he also built a widely respected program of research and education.

As a researcher, Willard has explored many facets of genetics and genome biology, with a particular interest in the structure and function of chromosomes, the epigenetic regulation of gene silencing, and the evolution and organization of complex genomes. He is an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences and has won many awards for genetics scholarship, including the William Allan Award from the American Society of Human Genetics.

Hunt Willard is an outstanding scholar and a proven scientific leader who has created programs that have earned international respect, said Zimmer. He exemplifies the values that guide the Marine Biological Laboratory and the University of Chicagowide-ranging collaboration, eagerness to explore and define new fields of study, and a dedication to discovery through engaged education. We are delighted to welcome him to this community, and confident that he will lead the MBL in a way that preserves its strengths, creates new opportunities for growth, and takes advantage of the relationship with the University of Chicago.

Willard said he was attracted by the MBLs historic role as a beacon for scientists from around the world, including its renowned summer courses and creative year-round programs of research and education.

Im honored to be named the next president and director of MBL, Willard said. The MBL has enjoyed such a strong tradition of integrating research and education since its founding, and offers wonderful opportunities to develop and implement novel strategies for tackling some of the most pressing questions in life sciences and biomedical research today. The highly interdisciplinary nature of its year-round and visiting scientists and students offers unique combinations of scholarship, teamwork and adaptability that cant be easily matched elsewhere.

I cant imagine a place that better illustrates the values of integrated research and education that are important to meas a scientist, an educator and as a leader. I look forward with great enthusiasm to joining this community, at both MBL and the University of Chicago.

Jennifer Morgan, an MBL scientist and associate director of the Eugene Bell Center for Regenerative Biology and Tissue Engineering, said Willard is a perfect fit for the MBLs intellectual culture.

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Huntington Willard named president and director of Marine Biological Laboratory

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We examined highly differentiated SNPs between European and African populations, as well as among African populations to gain insights into loci that may have undergone selection in response to local adaptive forces (Supplementary Methods). To account for confounding due to Eurasian admixture, we also conducted analyses after masking Eurasian ancestry (Supplementary Methods and Supplementary Note 6).

On examining locus-specific EuropeAfrica differentiation, enrichment of loci known to be under positive selection was observed among the most differentiated sites (P = 1.41031). Furthermore, there was statistically significant enrichment for gene variants among these, indicating that this differentiation is unlikely to have arisen purely from random drift (P = 0.0002). Additionally, we found no evidence for background selection as the primary driver of differentiation among these loci (Supplementary Note 7).

In addition to genes known to be under positive selection (for example, SLC24A5, SLC45A2 and OCA219, 20, LARGE21 and CYP3A4/5) (Supplementary Fig. 3), we found evidence of differentiation in novel gene regions, including one implicated in malaria (for chemokine receptor 1, CR1) (Extended Data Fig. 8). CR1 carries the Knops blood group antigens and has previously been implicated in malaria susceptibility22 and severity23, with evidence suggesting positive selection in malaria-endemic regions24 (Extended Data Fig. 8). We also identified highly differentiated variants within genes involved in osmoregulation (ATP1A1 and AQP2) (Extended Data Fig. 8). Deregulation of AQP2 expression and loss-of-function mutations in ATP1A1 have been associated with essential and secondary hypertension, respectively25, 26. Climatic adaptive changes in these gene regions could potentially provide a biological basis for the high burden of hypertension and differences in salt sensitivity observed in SSA27.

In contrast, overall differentiation among African populations was modest (maximum masked FST = 0.19) (Supplementary Fig. 4) and only 56/1,237 sites remained in the tail distribution after masking (Supplementary Methods, Supplementary Table 6). This suggests that a large proportion of differentiation observed among African populations could be due to Eurasian admixture, rather than adaptation to selective forces (Supplementary Note 6). Genes known to be under selection were notably enriched among the most differentiated loci after masking of Eurasian ancestry (P = 2.31016). Among the 56 loci robust to Eurasian ancestry masking (Supplementary Table 6), we identified several loci known to be under selection (Extended Data Fig. 8), including a highly differentiated variant (rs1378940) in the CSK gene region implicated in hypertension in genome-wide association studies (GWAS)28. The major allele of rs1378940 among Africans was in complete linkage disequilibrium with the risk allele of the GWAS SNP rs1378942 (ref. 29), with the frequency of this allele highly correlated with latitude (r = 0.67), providing support for local adaptation in response to temperature as a possible mechanism for hypertension (Supplementary Fig. 5)30, 31.

Comparing populations residing in endemic and non-endemic infectious disease regions (Supplementary Methods), we identified several loci associated with infectious disease susceptibility and severity. As well as the known sickle-cell locus related to malaria, this approach identified additional signals for genes potentially under selection, including the PKLR region32, RUNX333, the haptoglobin locus, CD16334, IL1035, 36, CFH, and the CD28-ICOS-CLTA4 locus (Supplementary Table 7 and Extended Data Fig. 8)37. Similar comparisons for Lassa fever identified the known LARGE gene, as well as candidates associated with viral entry and immune response, including in the Histocompatibility Leukocyte Antigen region, DC-SIGN/DC-SIGNR38 (also known as CD209/CLEC4M), RNASEL, CXCR6, IFIH139 and OAS2/3 regions (Supplementary Table 7). For trypanosomiasis, we identified APOL140, as well as several loci implicated in immune response and binding to trypanosoma, including FAS, FASLG41, 42, IL23R43, SIGLEC6 and SIGLEC12 (Supplementary Table 7)44. For trachoma, we identified signals in ABCA1 and CXCR6, which may be important for the growth of the parasite and host immune response, respectively (Supplementary Table 7)45, 46.

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The African Genome Variation Project shapes medical genetics in Africa

PUBLIC RELEASE DATE:

28-Nov-2014

Contact: Dr. Patricia Marquardt patricia.marquardt@molgen.mpg.de 49-308-413-1716 Max-Planck-Gesellschaft @maxplanckpress

This news release is available in German.

Humans don't like being alone, and their genes are no different. Together we are stronger, and the two versions of a gene - one from each parent - need each other. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have analysed the genetic makeup of several hundred people and decoded the genetic information on the two sets of chromosomes separately. In this relatively small group alone they found millions of different gene forms. The results also show that genetic mutations do not occur randomly in the two parental chromosome sets and that they are distributed in the same ratio in everyone.

In 2001 scientists announced the successful decoding of the first human genome. Since then, thousands more have been sequenced. The price of a genetic analysis will soon fall below the 1,000 dollar mark. Given this rapid pace of development, it's easy to forget that the technology used only reads a mixed product of genetic information. The analytical methods commonly employed do not take into account the fact that every person has two sets of genetic material. "So they are ignoring an essential property of the human genome. However, it's important to know, for example, how mutations are distributed between the two chromosome sets," says Margret Hoehe from the Max Planck Institute for Molecular Genetics, who carried out the study.

Hoehe and her team have developed molecular genetic and bioinformatic methods that make it possible to sequence the two sets of chromosomes in a human separately. The researchers decoded the maternal and paternal parts of the genome in 14 people and supplemented their analysis with the genetic material of 372 Europeans from the 1000 Genomes Project. "Fourteen people may not sound like a lot, but given the technical challenge, it is an unprecedented achievement," says Hoehe.

The results show that most genes can occur in many different forms within a population: On average, about 250 different forms of each gene exist. The researchers found around four million different gene forms just in the 400 or so genomes they analysed. This figure is certain to increase as more human genomes are examined. More than 85 percent of all genes have no predominant form which occurs in more than half of all individuals. This enormous diversity means that over half of all genes in an individual, around 9,000 of 17,500, occur uniquely in that one person - and are therefore individual in the truest sense of the word.

The gene, as we imagined it, exists only in exceptional cases. "We need to fundamentally rethink the view of genes that every schoolchild has learned since Gregor Mendel's time. Moreover, the conventional view of individual mutations is no longer adequate. Instead, we have to consider the two gene forms and their combination of variants," Hoehe explains. When analysing genomes, scientists should therefore examine each parental gene form separately, as well as the effects of both forms as a pair.

According to the researchers, mutations of genes are not randomly distributed between the parental chromosomes. They found that 60 percent of mutations affect the same chromosome set and 40 percent both sets. Scientists refer to these as cis and trans mutations, respectively. Evidently, an organism must have more cis mutations, where the second gene form remains intact. "It's amazing how precisely the 60:40 ratio is maintained. It occurs in the genome of every individual - almost like a magic formula," says Hoehe. The 60:40 distribution ratio appears to be essential for survival. "This formula may help us to understand how gene variability occurs and how it affects gene function."

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Duality in the human genome

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Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal Cell Reports by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

Surprisingly, however, transcription machinery does not need to physically pass through the repeat to stimulate its expansion. Thus, it is the active transcription state of the repeat-containing DNA segment, rather than RNA synthesis through the repeat that promotes expansions.

In the transcriptionally active state, DNA is packaged in chromatin more loosely than when it is transcriptionally inactive. More specifically, the density of nucleosomes along the transcribed DNA segment is significantly lower than that in the non-transcribed segment. This packaging of repetitive DNA within the transcribed areas gives much more room for DNA strand gymnastics, ultimately leading to repeat expansions.

Whatever the exact model, says Mirkin, the fact that expandable DNA repeats were always found in transcribed areas of our genome may not be that surprising after all.

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Link between DNA transcription, disease-causing expansions