Daily Archives: April 24, 2014

Fast Way to Measure DNA Repair

Posted: April 24, 2014 at 5:44 pm

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Newswise Our DNA is under constant attack from many sources, including environmental pollutants, ultraviolet light, and radiation. Fortunately, cells have several major DNA repair systems that can fix this damage, which may lead to cancer and other diseases if not mended.

The effectiveness of these repair systems varies greatly from person to person; scientists believe that this variability may explain why some people get cancer while others exposed to similar DNA-damaging agents do not. A team of MIT researchers has now developed a test that can rapidly assess several of these repair systems, which could help determine individuals risk of developing cancer and help doctors predict how a given patient will respond to chemotherapy drugs.

The new test, described in the Proceedings of the National Academy of Sciences the week of April 21, can analyze four types of DNA repair capacity simultaneously, in less than 24 hours. Previous tests have been able to evaluate only one system at a time.

All of the repair pathways work differently, and the existing technology to measure each of those pathways is very different for each one. It takes expertise, its time-consuming, and its labor-intensive, says Zachary Nagel, an MIT postdoc and lead author of the PNAS paper. What we wanted to do was come up with one way of measuring all DNA repair pathways at the same time so you have a single readout thats easy to measure.

The research team, led by professor Leona Samson, used this approach to measure DNA repair in a type of immortalized human blood cells called lymphoblastoid cells, taken from 24 healthy people. They found a huge range of variability, especially in one repair system where some peoples cells were more than 10 times more efficient than others.

None of the cells came out looking the same. They each have their own spectrum of what they can repair well and what they dont repair well. Its like a fingerprint for each person, says Samson, who is the Uncas and Helen Whitaker Professor, an American Cancer Society Professor, and a member of MITs departments of biological engineering and of biology, Center for Environmental Health Sciences, and Koch Institute for Integrative Cancer Research.

Measuring repair

With the new test, the MIT team can measure how well cells repair the most common DNA lesions, including single-strand breaks, double-strand breaks, mismatches, and the introduction of alkyl groups caused by pollutants such as fuel exhaust and tobacco smoke.

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Fast Way to Measure DNA Repair

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Deciphering Nature’s Alphabet – 4. Imagining the Genome – Video

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Deciphering Nature #39;s Alphabet - 4. Imagining the Genome
This film describes the launch of the Human Genome Project, how the idea emerged from the growing genetic engineering capacity, the technologies, politics and finances of genomics. Key inte

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Deciphering Nature’s Alphabet – 5. Impact of the Human Genome Project – Video

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Deciphering Nature #39;s Alphabet - 5. Impact of the Human Genome Project
This film describes the impact the Human Genome Project is having on basic research, medical advances and the application of genetic technologies to patients and families. Key inte

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User Comments on Genome Compiler – Video

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User Comments on Genome Compiler
A description of how to use the User Comments feature with Genome Compiler.

By: GenomeCompiler

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Mind Brain Genome Microbiome: Conversation with Deepak Chopra and Larry Smarr – Video

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Mind Brain Genome Microbiome: Conversation with Deepak Chopra and Larry Smarr
Deepak Chopra interviews Dr. Larry Smarr who is the founding Director of the California Institute for Telecommunications and Information Technology at (CALIT...

By: TheChopraFoundation

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Mind Brain Genome Microbiome: Conversation with Deepak Chopra and Larry Smarr - Video

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Genome yields insights into golden eagle vision, smell

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PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Natalie van Hoose nvanhoos@purdue.edu 765-496-2050 Purdue University

WEST LAFAYETTE, Ind. - Purdue and West Virginia University researchers are the first to sequence the genome of the golden eagle, providing a bird's-eye view of eagle features that could lead to more effective conservation strategies.

Their study calls into question long-held assumptions about golden eagle vision, indicating that the raptors may not be as sensitive to ultraviolet light as previously thought. The genome also suggests that golden eagles could have a sharper sense of smell than researchers realized.

Additionally, the genome provides thousands of genetic markers that will help researchers track populations and monitor eagle mortality.

"Having the golden eagle genome in hand could directly affect the way we make conservation and management decisions," said Jacqueline Doyle, postdoctoral research associate and first author of the paper.

Though it is one of the most widespread avian species, the golden eagle is threatened throughout much of its range by poaching, shrinking habitats and fatal collisions with wind turbines. An estimated 67 golden eagles are killed annually at a single wind farm - the Altamont Pass Wind Resource Area in central California - a heavy toll on a species that reproduces slowly and can live up to 30 years, said J. Andrew DeWoody, professor of genetics and senior author of the study.

One recently proposed method of reducing turbine-related eagle deaths was to coat wind turbines with ultraviolet-reflective paint, thereby heightening their visibility to eagles, which were thought to be sensitive to ultraviolet light. But the golden eagle genome suggests that eagle vision is rooted in the violet spectrum - like human sight - rather than the ultraviolet.

"We find little genomic evidence that golden eagles are sensitive to ultraviolet light," Doyle said. "Painting wind turbines with ultraviolet-reflective paint is probably not going to prevent eagles from colliding with turbines."

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Genome yields insights into golden eagle vision, smell

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Tsetse fly genome reveals weaknesses

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PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Mary Clarke press.office@sanger.ac.uk 44-012-234-95328 Wellcome Trust Sanger Institute

Mining the genome of the disease-transmitting tsetse fly, researchers have revealed the genetic adaptions that allow it to have such unique biology and transmit disease to both humans and animals.

The tsetse fly spreads the parasitic diseases human African trypanosomiasis, known as sleeping sickness, and Nagana that infect humans and animals respectively.

Throughout sub-Saharan Africa, 70 million people are currently at risk of deadly infection. Human African trypanosomiasis is on the World Health Organization's (WHO) list of neglected tropical diseases and since 2013 has become a target for eradication. Understanding the tsetse fly and interfering with its ability to transmit the disease is an essential arm of the campaign.

This disease-spreading fly has developed unique and unusual biological methods to source and infect its prey. Its advanced sensory system allows different tsetse fly species to track down potential hosts either through smell or by sight. This study lays out a list of parts responsible for the key processes and opens new doors to design prevention strategies to reduce the number of deaths and illness associated with human African trypanosomiasis and other diseases spread by the tsetse fly.

"Tsetse flies carry a potentially deadly disease and impose an enormous economic burden on countries that can least afford it by forcing farmers to rear less productive but more trypanosome-resistant cattle." says Dr Matthew Berriman, co-senior author from the Wellcome Trust Sanger Institute. "Our study will accelerate research aimed at exploiting the unusual biology of the tsetse fly. The more we understand, the better able we are to identify weaknesses, and use them to control the tsetse fly in regions where human African trypanosomiasis is endemic."

The team, composed of 146 scientists from 78 research institutes across 18 countries, analysed the genome of the tsetse fly and its 12,000 genes that control protein activity. The project, which has taken 10 years to complete, will provide the tsetse research community with a free-to-access resource that will accelerate the development of improved tsetse-control strategies in this neglected area of research.

The tsetse fly is related to the fruit fly a favoured subject of biologists for more than 100 years but its genome is twice as large. Within the genome are genes responsible for its unusual biology. The reproductive biology of the tsetse fly is particularly unconventional: unlike most insects that lay eggs, it gives birth to live young that have developed to a large size by feeding on specialised glands in the mother.

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Autism Genome Project delivers genetic discovery

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PUBLIC RELEASE DATE:

24-Apr-2014

Contact: Steffanie Marchese steffanie.marchese@autismspeaks.org 646-345-8537 Autism Speaks

NEW YORK, N.Y. (April 24, 2014) A new study from investigators with the Autism Genome Project, the world's largest research project on identifying genes associated with risk for autism, has found that the comprehensive use of copy number variant (CNV) genetic testing offers an important tool in individualized diagnosis and treatment of autism.

Funded primarily by Autism Speaks, the world's leading autism science and advocacy organization, the Autism Genome Project involved more than 50 research centers in 11 countries. The report, published today in the American Journal of Human Genetics, delivers on the 10-year project's objective to provide practical methods for earlier diagnosis and personalized treatment of autism.

"With the publication of this study, we should step back to recognize and celebrate the pioneering achievements of the AGP and what they have accomplished in helping to launch the field of genomic risk discovery in autism," says Autism Speaks Chief Science Officer Rob Ring. "The AGP has generated information that holds the potential to guide medical care for certain individuals with autism today. They have demonstrated that science can work for families, and Autism Speaks is proud to have been a supporter of the work all along the way."

The study involved CNV testing of 2,446 families affected by autism and 4,768 individuals unaffected by neurologic or psychiatric disorders. Overall, CNVs were significantly more common in the participating families affected by autism. And, the CNV testing uncovered dozens of cases where autism-linked gene changes were associated with additional health risks warranting medical attention.

In nine of the families affected by autism, CNVs involved a gene that indicates elevated risk for seizures and epilepsy. "This result warrants an immediate referral to a neurologist," explains senior author Stephen Scherer of the Toronto's Hospital for Sick Children and the University of Toronto. Similarly, CNV testing indicated a high risk for muscular dystrophy in several of the autism families and identified syndromes associated with heart problems in others.

CNVs are genetic changes that involve duplication or deletion of entire segments of DNA. They do not typically show up on standard genetic tests which search for "spelling mistakes" in the DNA letters that compose a gene. Those standard tests identify a clear genetic autism link in only 15 to 20 percent of the cases.

"This report and its extensive supplements should become a new guidebook for medical geneticists working with families affected by autism," Dr. Scherer says.

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Autism Genome Project delivers genetic discovery

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Decoded fly genome offers clues about sleeping sickness

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Geoffrey M. Attardo

An estimated 70 million people remain at risk for sleeping sickness, which is carried by the tsetse fly.

Public-health workers are one step closer to stamping out a debilitating and potentially fatal disease known as sleeping sickness following the sequence of its carrier, the tsetse fly. The 366-million-base sequence of Glossina morsitans morsitans offers clues to the insect's diet, vision and reproductive strategies, researchers say.

This really accelerates our ability to do basic research on this fly, says lead author Geoffrey Attardo of the Yale School of Public Health in New Haven, Connecticut. The work was published today in Science1.

Tsetse flies carry protozoan parasites that cause sleeping sickness, also known as trypanosomiasis, in humans, and a similar disease (nagana) in livestock, in sub-Saharan Africa. Control measures such as trapping and killing the flies have helped to bring down the number of cases, but there is no vaccination, and an estimated 70 million people remain at risk of infection. The decoding of the genome will help researchers to hone in on specific characteristics of the fly and potentially lead to new or more effective ways to control the fly population, says Attardo.

G. morsitans has become the species of choice for researchers studying sleeping sickness, in part because its preference for animals makes it safer to study in the lab. Hence, much is already known about its biology and behaviour.

The genome helped expand that understanding, elucidating, for example, feeding behaviour. Unlike relatives such as mosquitoes and sand flies, which also feed on plant nectar, the tsetse fly feeds exclusively on blood. The authors all members of the International Glossina Genome Initiative now find that the tsetse has extra genes associated with the break down and tolerance of blood, and fewer linked to the metabolism of carbohydrates, a genomic signature of flies that feed on sugar.

Another known aspect of tsetse-fly biology is the insect's affinity for the colours blue and black, a trait used in the design of nets for trapping and killing the flies. But the biological mechanism for this preference has been unclear. The genome decoding provides some clues; it revealed the presence of genes that are associated with the eyes' ability to absorb certain wavelengths of light, including one for blue.

An effective way to control disease in the field is to control the fly population, says co-author Serap Aksoy, also at the Yale School of Public Health. One way to do this is to interfere with the insect's ability to reproduce. The female tsetse fly is unusual among flies in that it does not lay eggs, but rather nourishes a single larva in its uterus using a milk-like substance. Some of the proteins involved in lactation had already been identified2, but the authors found an unknown family of proteins that they suspect are involved in holding together the fat and liquid parts of the milk. Understanding how these genes work could help scientists to stymie milk production, thereby starving the growing larvae and causing them to be aborted.

Brian Wiegmann, an entomologist at North Carolina State University in Raleigh, lauds the Science study as a whole-biology paper. It is the biology of the organism put into the context of the genome, he says. Having spent the past ten years compiling the fly phylogenetic tree (specifically the order Diptera, which includes gnats and mosquitoes), Weigmann says that the tsetse genome will help him to understand the genomic underpinnings of the fly's various adaptations and how the flies diverged from other species.

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Net closing on serial killer parasite

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Cambridge genome scientists and international colleagues are closing in on new weapons to eradicate deadly diseases spread by the tsetse fly.

The most comprehensive ever study of the tsetse genome, backed by the World Health Organization, has shown potential chinks in the parasites armour, the Wellcome Trust Sanger Centre in the UK believes.

Mining the genome of the killer fly, researchers have revealed the genetic adaptions that allow it to have such unique biology and transmit disease to both humans and animals.

The tsetse fly spreads the parasitic diseases human African trypanosomiasis, known as sleeping sickness, and Nagana that infect humans and animals respectively.

Throughout sub-Saharan Africa, 70 million people are currently at risk of deadly infection. Human African trypanosomiasis is on the WHOs list of neglected tropical diseases and since 2013 has become a target for eradication. Understanding the tsetse fly and interfering with its ability to transmit the disease is an essential arm of the campaign.

The tsetse has developed unique and unusual biological methods to source and infect its prey. Its advanced sensory system allows different tsetse fly species to track down potential hosts either through smell or by sight.

This study lays out a list of parts responsible for the key processes and opens new doors to design prevention strategies to reduce the number of deaths and illness associated with human African trypanosomiasis and other diseases spread by the fly.

Dr Matthew Berriman, co-senior author from the Wellcome Trust Sanger Institute, said: Tsetse flies carry a potentially deadly disease and impose an enormous economic burden on countries that can least afford it by forcing farmers to rear less productive but more trypanosome-resistant cattle.

Our study will accelerate research aimed at exploiting the unusual biology of the tsetse fly. The more we understand, the better able we are to identify weaknesses and use them to control the tsetse fly in regions where human African trypanosomiasis is endemic.

The team, comprising 146 scientists from 78 research institutes across 18 countries, analysed the genome of the tsetse fly and its 12,000 genes that control protein activity. The project, which has taken 10 years to complete, will provide the tsetse research community with a free-to-access resource that will accelerate the development of improved tsetse-control strategies in this neglected area of research.

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Net closing on serial killer parasite

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