Sequencing of frog genome may offer new insights into human diseases

Washington, May 7 (ANI): An international team of researchers has cracked the genetic code of an amphibian, the African clawed frog Xenopus tropicali – the latest research aimed at understanding how genes work for potential applications in human health.

The genome of Xenopus tropicalis has been analysed by an international consortium of scientists from 24 institutions, and joins a list of sequenced model organisms including the mouse, zebrafish, nematode and fruit fly.

What’s most surprising, researchers say, is how closely the amphibian’s genome resembles that of the mouse, the chicken and the human, with large swathes of frog DNA on several chromosomes having genes arranged in the same order as in these mammals.

“A lot of furry animals have been sequenced, but far fewer other vertebrates,” said co-author Richard Harland, University of California, Berkeley, professor of molecular and cell biology.

“Having a complete catalog of the genes in Xenopus, along with those of humans, rats, mice and chickens, will help us reassemble the full complement of ancestral vertebrate genes.”

The researchers found that nearly 80 per cent of all human genes associated with genetic diseases have counterparts in the western-clawed frog, Xenopus tropicalis.

This discovery could lead to a better understanding of the genetic and chemical basis for many of the human diseases.

The research, published this week in the journal Science, was led by the Department of Energy’s Joint Genome Institute (JGI) and the University of California, Berkeley. (ANI)

Human and frogs share the ‘kissing cousin’ bond

Washington, April 30 (ANI): An international team of researchers has cracked the genetic code of an amphibian, the African clawed frog Xenopus tropicali – the latest research aimed at understanding how genes work for potential applications in human health.

The genome of Xenopus tropicalis has been analysed by an international consortium of scientists from 24 institutions, and joins a list of sequenced model organisms including the mouse, zebrafish, nematode and fruit fly.

What”s most surprising, researchers say, is how closely the amphibian”s genome resembles that of the mouse, the chicken and the human, with large swathes of frog DNA on several chromosomes having genes arranged in the same order as in these mammals.

“A lot of furry animals have been sequenced, but far fewer other vertebrates,” said co-author Richard Harland, University of California, Berkeley, professor of molecular and cell biology.

“Having a complete catalog of the genes in Xenopus, along with those of humans, rats, mice and chickens, will help us reassemble the full complement of ancestral vertebrate genes.”

The researchers found that nearly 80 per cent of all human genes associated with genetic diseases have counterparts in the western-clawed frog, Xenopus tropicalis.

This discovery could lead to a better understanding of the genetic and chemical basis for many of the human diseases.

The research, published this week in the journal Science, was led by the Department of Energy”s Joint Genome Institute (JGI) and the University of California, Berkeley. (ANI)

Procedure to knock out genes in nematode discovered

London, Apr 26 (ANI): After developing knockout mice and fruit flies, scientists have now devised a procedure for knocking out genes in nematode worms.

By knocking genes out of action, researchers led by biologist Erik Jorgensen University of Utah at, could learn what genes do by seeing what goes wrong without them.

“We developed a method that allows us to walk through the worm genome and determine the function of each gene, and thereby infer the function of these genes in humans,” Nature quoted Jorgensen as saying.

The study shows how a transposon or “jumping gene” can be used to delete specific genes from the 1-millimeter-long nematode worm, Caenorhabditis elegans.

“We are trying to understand how genes work and are regulated, and the easiest way to do that is to use a simple organism. The amazing thing is that cellular processes in a lowly worm are similar to the biology in humans. We”ve made it much easier and faster to change the genetic blueprint of a simple worm so we can study and understand how genes are regulated,” said Christian Frokjaer-Jensen, the study”s first author.

Jorgensen added: “We want to know what human genes do because they allow us to do all the wonderful things we do – run, speak, live – and understand what goes wrong in genetic diseases and how we can possibly treat them.”

“Mario figured out a way to delete genes in mice. Golic figured out how to do it in fruit flies. And we figured out how to delete genes in worms. There is an institutional excellence in genetics at the University of Utah,” said Jorgensen.

In nematode worms, “we”re knocking out the entire gene, but we cannot knock out every individual gene in the worm yet,” although the method should be able to delete 20,043 of 20,160 nematode genes, or 99.4 percent, he added.

The new knockout method is named MosDel – for Mos-mediated deletion – because it involves a transposon or jumping gene named Mos1.

Jumping genes are pieces of DNA that can jump from one chromosome to another, cutting the DNA where they leave one chromosome and cutting DNA to insert themselves in another.

The Mos1 gene carries the code to make an enzyme named Mos1 transposase.

That enzyme does the actual cutting of DNA, said Frokjaer-Jensen.

The transposons in the new study came from fruit flies and were placed into the worm genetic blueprint by French scientists who provided them to the Utah team.

Frokjaer-Jensen said that the Utah researchers crippled the jumping genes put into worms “so we can control when and where they hop.”

The Utah biologists used a plasmid – a circular piece of DNA – as a carrier by injecting it with the gene for Mos1 transposase, the “scissors” that cut DNA. Then, a glass needle was used to inject the combination into a worm”s gonad.

The transposase-carrying plasmid then cuts out a Mos1 jumping gene adjacent to a gene that researchers want to knock out, leaving a break in the chromosome”s DNA.

Cell machinery kicks in to repair the DNA break.

Since chromosomes come in pairs, the repair process normally uses the undamaged twin chromosome as a template for repairing the break.

But “in this case, we flood the cell with DNA that”s similar to where the DNA was broken. We essentially trick the DNA machinery into repairing off a template we supply,” said Frokjaer-Jensen.

But the template provided by the biologists lacks the DNA for the gene they want to delete. Thus, the gene is knocked out in the worm”s offspring.

The study has been published in the journal Nature Methods. (ANI)

Landmark ruling deems cancer gene patents invalid

A district court judge in the United States has ruled that patents should not have been awarded over the breast and ovarian cancer genes BRCA1 and 2.

The decision raises serious concerns about whether patents should be awarded on human and other genes and proteins found in nature.

It is the first time a court has found patents on genes unlawful and calls into question the validity of patents now held on about 2,000 human genes.

The case, brought by the American Civil Liberties Union (ACLU), was prompted by the actions of patent owner Myriad Genetics who claims the exclusive right to test for BRCA1 and BRCA2.

The tests show whether a woman is more susceptible to developing breast and ovarian cancer.

ACLU attorney Chris Hansen said: “Today’s ruling is a victory for the free flow of ideas in scientific research.”

Myriad Genetics charges women in the US around $3,700 for the test and the company does not allow second opinions.

The exclusive licence for the tests in Australia is owned by Genetic Technologies Limited which has “gifted” its intellectual property rights to Australian institutions and does not impose royalties here.

In 2003 and 2008, however, Genetic Technologies Limited sent legal letters to Westmead Hospital and the Peter MacCallum Cancer Institute in Victoria to cease testing for the BRCA1 and 2 genes.

In the district court in New York, Judge Robert Sweet found that certain respects of the seven patents awarded over the human genes are invalid.

Judge Sweet found that removing the gene from its natural environment, the body, is not sufficiently different to what is found in nature, therefore such processes are a “discovery” and not an “invention”, making any patent invalid.

On the diagnostic side, the judgment also says the use of the gene material in the test does not make the test patentable.

There is no transformation that happens to the biological materials themselves that means the company can claim an “invention” and therefore be awarded a patent over the genes.

Myriad Genetics has yet to announce whether it will appeal the decision.

In Australia, a Senate inquiry into gene patents is expected to report in June.

It has heard evidence from both sides of the argument including from Australia’s biotech industry, which says any moves to ban patents on genes will be disastrous for investment and the biotech industry as a whole.

Judge in New York dismisses human gene patent

Two human genes associated with breast and ovarian cancers cannot be patented because they are a product of nature, a federal judge ruled on Monday.

The American Civil Liberties Union and other groups sued in May to invalidate a patent on two genes held by Myriad Genetics on grounds those patents stifled the free flow of information and hampered research.

Mutations on those genes are responsible for most cases of hereditary breast and ovarian cancers.

“Because the claimed isolated DNA is not markedly different from native DNA as it exists in nature, it constitutes unpatentable subject matter,” U.S. District Judge Robert Sweet said in a 152-page written ruling.

“Similarly, because the claimed comparisons of DNA sequences are abstract mental processes, they also constitute unpatentable subject matter,” the judge ruled.

A representative from Myriad did not immediately respond to a request for comment.

During oral arguments held at Manhattan federal court last month, a lawyer for Myriad said patents have a positive impact on human health because they promote innovation.

“This is not nature’s handiwork… this is the hard work of man,” said Brian Poissant, a lawyer for Myriad.

The lawsuit by the ACLU, the Association for Molecular Pathology, individual women and others was brought against the U.S. Patent and Trademark Office, Myriad Genetics and the University of Utah Research Foundation, which hold the patents on the BRCA1 and BRCA2 genes.

(Reporting by Edith Honan; editing by Ellen Wulfhorst and Mohammad Zargham)

Genetic variation linked to protection against sudden cardiac arrest

Washington, Mar 27 (ANI): A genetic variation associated with lower risk of sudden cardiac arrest has been found by physician-scientists at the Cedars-Sinai Heart Institute.

The finding will be published in Public Library of Science (PloS One).

The discovery came from a genome-wide association study, which examines the entire set of human genes to detect possible links between genetic variations and specific conditions or diseases.

In the study, the Cedars-Sinai Heart Institute researchers compared the genetic makeup of 424 subjects who had experienced sudden cardiac arrest to the DNA of 226 control subjects who had no history of the disorder. All patients had a history of coronary artery disease, which commonly underlies sudden cardiac arrest.

Based on a comparison of the two groups, a genetic variation at the location of the GPC5 gene – a genetic sequence called rs3864180 – was found to be associated with a reduced risk of sudden cardiac arrest.

“If you have this genetic variation in your DNA, it appears that you may have a 15 percent lower likelihood of sudden cardiac arrest,” said Sumeet S. Chugh, M.D., associate director of the Cedars-Sinai Heart Institute, holder of The Pauline and Harold Price Chair in Cardiac Electrophysiology Research, and one of the senior authors of the study.

“This kind of genetic analysis is not aimed at identifying a single big gene defect or mutation,” he said. “The goal is to identify a series of smaller novel gene defects that, when grouped together, collectively result in either a protective effect or an increased susceptibility to sudden cardiac arrest.” (ANI)

Swine Flu virus outbreak milder than previously believed

Washington, May 2 (ANI): Health officials in the US have said that the outbreak of the Swine Flu virus is milder than previously believed.

According to a report by Fox News, New York City officials said that the swine flu still has not spread beyond a few schools, and in Mexico, the suspected origin of the outbreak, very few relatives of flu victims seem to have caught the virus.

As further evidence that this strain of the H1N1 influenza virus is looking a little less ominous, a US health official says it lacks the genes that made the 1918 pandemic strain so deadly.

Also, a flu expert in New York says there’s no reason to believe the new virus is a more serious strain than seasonal flu.

US President Barrack Obama said that the flu may have run its course “like ordinary flus,” however, the government is preparing for worst-case scenarios, such as the virus’ potential reappearance this fall in more sinister form.

The Centers for Disease Control (CDC) and Prevention said that the strain of flu is “a very unusual” four-way combination of human genes and genes from swine viruses found in North America, Asia and Europe.

CDC flu chief Dr. Nancy Cox said that the good news is “we do not see the markers for virulence that were seen in the 1918 virus.”

Still, US authorities are pledging to eventually produce enough swine flu vaccine for everyone, but the shots won’t begin until fall, at the earliest.

Scientists are racing to prepare the key ingredient to make a vaccine against the never-before-seen flu strain – if it’s ultimately needed.

But, it will take several months before the first pilot lots begin required human testing to ensure the vaccine is safe and effective.

“We think 600 million doses is achievable in a six-month time frame” from that fall start, Health and Human Services Assistant Secretary Craig Vanderwagen said.

“I don’t want anybody to have false expectations. The science is challenging here,” said Vanderwagen. “It’s a question of can we get the science worked on the specifics of this vaccine,” he added.

The Centers for Disease Control and Prevention have reported 141 cases of swine flu in 19 states of the US.

Some 430 of the nation’s 130,000 public and private schools have closed, while high school, college and professional sporting events have been called off nationwide due to increasing fears. (ANI)

Scientists unravel cow genome

Washington, Apr 24 (ANI): An international team of scientists has successfully sequenced cow’s genome, thus paving the way for more sustainable food production.

A research team involving 300 researchers from 25 countries spent six years mapping and analysing the genetic make-up of a Hereford cow, named L1 Dominette.

The findings of this study provide the means to select animals with a smaller environmental footprint, particularly animals with less greenhouse gas emissions.

“The bovine genome is more similar to that of humans than mice or rats at all levels, from genomic DNA rearrangements, to shared genes and identity of their protein sequences” said Evgeny Zdobnov, one of the lead analysts from the project and a researcher at the University of Geneva and the Swiss Institute of Bioinformatics.

He added, “The finding that about 75percent of human genes are well conserved across mammals is striking. The bovine genome gives us further insight into human biology, allowing us to highlight the loss or gain of certain gene families in hominoids.

The majority of the genes in the former group can encode several different proteins through a mechanism called alternative splicing.

“The sequencing of the cow genome allowed us to determine that this diversification mechanism is more evolutionary conserved than previously thought”, said Alexandre Reymond, the leader of the analysis.

In cattle biology, chromosomal rearrangements have an influence on the genes involved in the processes of immunity, lactation, digestion and metabolism.

These changes could help explain the amazing ability of cattle to efficiently convert low-quality forage into energy-dense meat and milk, processes long exploited by man.

The study appears in journal Science. (ANI)

Indian scientists complete full genome sequencing of the striped Zebra fish

With the consistent, almost two months-long efforts of the scientists at the Institute of Genomics and Integrative Biology (IGIB), New Delhi, a striped ‘Zebra fish,’ picked up from a rivulet in Assam, has become the first vertebrate in India to have its whole genome sequenced.

The Indian scientists sequenced nearly 1.7 billion genetic alphabets that make up the full genome of the Zebra fish. Along with being native to Indian rivers, the barely four centimeter long striped fish is popular in household aquariums and is widely considered an ideal organism for studying human genes, as it has blood, eye, heart, kidney and other biological processes similar to the human system.

Talking about the significance of having worked out the genome sequence, Dr. Vinod Scaria, IGIB’s research team member, said: “After the mouse, the zebrafish is the most favoured animal model for human diseases. The zebrafish may be used to study the mechanics of a variety of human diseases – cardiovascular diseases, genetic disorders, blood disorders, muscle and bone diseases.”

In order to complete the Zebra fish sequence, high-speed sequencers and computers were used by the researchers, who have now embarked on the next phase of the research called ‘Project Kaurava’, by launching the world’s first endeavor towards comparison of genetic variations in 100 siblings from a single parent zebrafish.

Process separate from natural selection also drives human evolution

Washington, Jan 27 (ANI): A new research, led by a group at Uppsala University in Sweden, has suggested that apart from natural selection, a separate neutral (nonadaptive) process has also made a significant contribution to human evolution.

The researchers identified fast evolving human genes by comparing our genome with those of other primates.

However, surprisingly, the patterns of molecular evolution in many of the genes they found did not contain signals of natural selection.

Instead, their evidence suggests that a separate process known as BGC (biased gene conversion) has speeded up the rate of evolution in certain genes.

This process increases the rate at which certain mutations spread through a population, regardless of whether they are beneficial or harmful.

“The research not only increases our understanding of human evolution, but also suggests that many techniques used by evolutionary biologists to detect selection may be flawed,” said scientist Matthew Webster.

BGC is thought to be strongest in regions of high recombination, and can cause harmful mutations can spread through populations.

The results lead to the provocative hypothesis that, rather than being the result of Darwinian selection for new adaptations, many of the genetic changes leading to human-specific characters may be the result of the fixation of harmful mutations.

This contrasts the traditional Darwinistic view that they are the result of natural selection in favour of adaptive mutations. (ANI)