A leap forward for red blood cell formation: Researchers have identified 75 genetic regions that influence red blood cell formation

ScienceDaily (Dec. 4, 2012) ? New research is revealing how red blood cells are made and how the body regulates the amount of haemoglobin that is packaged in red blood cells at any time. Genomic analysis techniques have doubled the number of genetic regions that are likely to be involved in red blood cell formation and subsequent study using fruit flies has given insights into what these regions do.

Haemoglobin is the protein which captures oxygen from the lungs for transport and delivery to tissues. It colours blood cells red and each day hundreds of millions of fresh red blood cells have to be formed by blood stem cells to replace the ones which come to the end of their life cycle. Anemia, one of the most common disorders for which people visit their surgery, ensues if the production of new red blood cells is insufficient or their lifespan is shortened. The new genetic information is laying the foundations for future studies into the roots of anemia by uncovering new biological pathways and mechanisms involved in controlling the size and number of red blood cells and the levels of haemoglobin.

The researchers used genome-wide association studies to identify genetic regions that appeared to influence the formation of red blood cells and their haemoglobin content.

"We studied the genetic influences behind six different physical parameters of red blood cells that reflect the volume and number of red blood cells and the levels of haemoglobin," says Dr John Chambers, lead author from Imperial College, London. "Our initial genetic association study looked into the genomes of 135,367 people and identified 75 genetic regions that directly influence these different traits of red blood cells. More than half -- 43 -- of these discoveries are new in people."

The team then closely examined using computational biology approaches the 75 genetic regions and the more than 3,000 genes responsible for protein production lie close to these regions. They prioritised 121 'candidate' genes or genes that are likely to regulate a trait in red blood cells from this list and investigated their function using information on model systems like from public databases as well as newly-generated data for fruit fly.

"Our work shows how model systems like fruit fly and mice can be used to provide insights into human genetics," says Professor Willem Ouwehand, lead author from the University of Cambridge and NHS Blood and Transplant. "We searched through a Mouse Genome database and found that 29 of our 121 candidate genes are linked to red blood cell formation in mice.

"These previous studies revealed that -- when the function of these genes was switched off- the mice frequently developed reduced numbers of red blood cells, and anemia. These observations made in mice make it highly likely that the remaining candidate genes, about which there is no knowledge yet, are also important regulators of red blood cell formation in people."

To investigate further, the team then reduced or 'silenced' the activity of the candidate genes in fruit flies. Although fruit flies do not have red blood cells, they share some of the gene functions leading to the formation of blood elements. These studies confirmed that sets of genes involved in controlling human red blood cell traits in people were also important for the formation of blood cells in fly.

"These results support the view that genetic association studies identify sets of genes that are conserved in evolution across a wide range of species," says Dr Nicole Soranzo, lead author from the Wellcome Trust Sanger Institute. "This is exciting because it means that we can obtain extensive new insights into the genetics and biological pathway of human health by studying model organisms.

"Although the underlying mechanisms for the majority of genes we've identified still need to be elucidated, our research is opening many doors for future studies on the generation of red blood cells for clinical use in the laboratory and may also provide insights which may lead to improvements in the treatment of patients with inherited anaemias."

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The above story is reprinted from materials provided by Wellcome Trust Sanger Institute.

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Journal Reference:

1. Pim van der Harst et al. Seventy-five genetic loci influencing the human red blood cell. Nature, 2012; DOI: 10.1038/nature11677

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Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

Source: http://feeds.sciencedaily.com/~r/sciencedaily/top_news/top_health/~3/iBJWWn5pNGs/121205132242.htm

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Louvre comes to poor French city, raising eyebrows

LENS, France (AP) ? The Louvre has embarked on an ambitious quest ? opening a ?150 million ($196 million) extension in an abandoned coal mining town in northern France that has an unemployment rate nearly three times the national average.

The "Louvre-Lens" project ? housed in a futuristic glass and aluminum complex ? opens this week in an attempt to silence critics who say French art is limited to the country's Parisian elite.

Proponents say the complex will offer culture to the less cultivated provinces and give residents a unique opportunity to see high-end art.

But for all its trumpeting of uniting everyone through art, the slick museum building instead highlights the contrasts with Lens' depressed city center, which is riddled with closed shops, abandoned houses, angry residents and a boarded-up cinema.

French President Francois Hollande, who visited the museum on Tuesday, didn't even bother to stop off in the city, let alone meet any residents.

To locals, the Louvre's gesture to bring culture to their forgotten city was a bit patronizing.

"Why do we need a museum and culture here? We need money and jobs," said resident Amandine Grossemy, 26. "Who's da Vinci, anyway?"

"We weren't consulted on whether we wanted one," cafe worker Veronique Roszak, 53, said of the museum. "Young people here are looking for work."

"Whoever it helps, it won't be us," said Mounira Hadhek, 26. "They've made us pay for parking now in the city center, I've got ?80 ($105) fines already. We can't afford this, all we can afford is one euro on coffee."

"They said that Lens is now alive. Look around, it's dead, all dead," added Roszak, standing next to the closed Apollo theater. "Who'll come here?"

Officials hope Louvre-Lens can help transform the city the way the Guggenheim Museum in Bilbao, Spain, turned a struggling industrial area into a hot travel destination. Lens was picked precisely because it was in such need of a reversal of fortune.

"It's important, as Lens is a territory that has suffered from every crisis, from every war," said Louvre director Henri Loyrette.

The city was reduced to rubble in World War I and occupied by the Nazis and battered by Allied bombings in World War II. Then workers risked their lives daily in the city's coal mines for decades ? including enduring a 1974 tragedy in which 42 miners died. When the mines closed ? the last one in 1986 ? the area was plunged into poverty.

"France abandoned us when the coal stopped, and we became a ghost town," said regional president Daniel Percheron.

The statistics agree: Lens, one of the country's poorest cities, has an unemployment rate of 24 percent, well above the national average of 9 percent.

The museum, designed by a Japanese firm, transformed a former coal mine into a grand, verdant space that boasts 6,600 trees, 26,000 shrubs and a glistening infrastructure of sleek anodized aluminum. The inside is equally impressive, with two sprawling exhibition spaces teaming with works as diverse as ancient Cycladic sculptures, Egyptian diorite statues, 11th century Italian church mosaics and Leonardo da Vinci's restored masterpiece, "The Virgin and Saint Anne."

The permanent open-plan exhibition space offers an encyclopedic overview of two millennia of art along with an avant-garde system of presentation. No work is hung from the aluminum walls, which serve as a mirror for the art.

But it's not clear this will be enough to attract 700,000 visitors in the first year and increase the city's economic output by 10% in 10 years, as officials hope. The area does not have Bilbao's beaches or its noted Basque cuisine.

"It's close to Belgium, southern England and close to Germany," noted Loyrette.

Officials say the museum, eight years in the making, is just the first step in the city's rehabilitation.

"We are telling entrepreneurs and companies: Come here.... Here there is a real future," said Percheron.

____

Follow Thomas Adamson at http:/ /Twitter.com/ThomasAdamsonAP

Source: http://news.yahoo.com/louvre-comes-poor-french-city-raising-eyebrows-124754403.html

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Study finds prioritizing rather than canvassing entire plant genome may lead to improved crops

Public release date: 4-Dec-2012
[ | E-mail | Share ]

Contact: Jianming Yu
jyu@k-state.edu
785-532-6094
Kansas State University

MANHATTAN, Kan. -- A new study may help scientists produce better climate-resistant corn and other food production plants by putting a spin on the notion that we are what we eat.

Kansas State University geneticists and colleagues found that by applying a genetic-analysis method used to study and prioritize the genes in humans, it improved the likelihood of finding critical genes in food production plants. These genes control quantitate traits in plants, such as how the plants grow and when they flower.

Additionally, this method can be used to study how food production plants respond to drought, heat and other factors -- giving scientists a greater chance at improving crops' resistances to harsh weather and environments.

"Right now we know most of the genes that make up several of these food production plants, but finding the right genes to increase food yield or heat tolerance is like finding a needle in a haystack," said Jianming Yu, associate professor of agronomy at Kansas State University and the study's senior author.

Yu made the finding with Xianran Li and Chengsong Zhu, both agronomy research associates at Kansas State University; Patrick Schnable, Baker professor of agronomy at Iowa State University, and colleagues at Cornell University; the Cold Spring Harbor Laboratory; the University of Minnesota; and the U.S. Department of Agriculture-Agricultural Research Service.

Their study, "Genic and non-genic contributions to natural variation of quantitative traits in maize," was recently published in the journal Genome Research. The National Science Foundation funded the research.

For the study, researchers looked at the sequenced genome of corn. A genome is the genetic blueprint of an organism and contains all of the DNA and genes that give the organism its traits, like height and color. Staple food crops like corn, wheat, barley and oats have comparable and sometimes larger, more complex genomes than humans and mammals. That poses a challenge for scientists attempting to modify the plant and improve aspects like production and heat tolerance.

"Like humans, plants have complex traits and complex diseases," said Li, the study's first author. "In plants, those are things like drought tolerance and grain yield. Sometimes one specific gene can make a big change. Frequently, though, it involves multiple genes. Each gene has a small, modest effect on the trait and many genes are involved. This makes it really difficult to study."

Historically, scientists have analyzed an isolated region of a plant genome -- often taking a trial-and-error approach at finding what genes control what traits.

Instead, researchers approached the corn genome with a relatively new analysis method that is used to study the genome of humans. The method, called genome-wide associate studies -- or GWAS -- searches the entire genome for small, frequent variations that may influence the risk of a certain disease. This helps researchers pinpoint genes that are potentially problematic and may be the key in abnormal traits and diseases.

"Conducting routine, full-scale, genome-wide studies in crop plants remains challenging due to cost and genome complexity," said Schnable, the other senior author. "What we tried to get out of this study is a broad view of which regions of crop genomes should be examined in detail."

Using the GWAS method for multiple analyses and complementary methods in identifying genetic variants, researchers were able to find that, on average, 79 percent of detectable genetic signals are concentrated at previously defined genes and their promoter regions.

According to Yu, the percentage is a significant increase compared to looking at the gene regions alone.

"We used to think that genes are the only search priority and there were just many other less important or useless DNA sequences," Yu said. "But now we are starting to see that these other regions harbor some important genetic codes in them. Canvassing without prioritizing can be cost prohibitive, however, and efficient GWAS in crops with complex genomes still need to be carried out by taking advantage of a combination of genome technologies available."

###

---

[ | E-mail | Share ]

?

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Public release date: 4-Dec-2012
[ | E-mail | Share ]

Contact: Jianming Yu
jyu@k-state.edu
785-532-6094
Kansas State University

MANHATTAN, Kan. -- A new study may help scientists produce better climate-resistant corn and other food production plants by putting a spin on the notion that we are what we eat.

Kansas State University geneticists and colleagues found that by applying a genetic-analysis method used to study and prioritize the genes in humans, it improved the likelihood of finding critical genes in food production plants. These genes control quantitate traits in plants, such as how the plants grow and when they flower.

Additionally, this method can be used to study how food production plants respond to drought, heat and other factors -- giving scientists a greater chance at improving crops' resistances to harsh weather and environments.

"Right now we know most of the genes that make up several of these food production plants, but finding the right genes to increase food yield or heat tolerance is like finding a needle in a haystack," said Jianming Yu, associate professor of agronomy at Kansas State University and the study's senior author.

Yu made the finding with Xianran Li and Chengsong Zhu, both agronomy research associates at Kansas State University; Patrick Schnable, Baker professor of agronomy at Iowa State University, and colleagues at Cornell University; the Cold Spring Harbor Laboratory; the University of Minnesota; and the U.S. Department of Agriculture-Agricultural Research Service.

Their study, "Genic and non-genic contributions to natural variation of quantitative traits in maize," was recently published in the journal Genome Research. The National Science Foundation funded the research.

For the study, researchers looked at the sequenced genome of corn. A genome is the genetic blueprint of an organism and contains all of the DNA and genes that give the organism its traits, like height and color. Staple food crops like corn, wheat, barley and oats have comparable and sometimes larger, more complex genomes than humans and mammals. That poses a challenge for scientists attempting to modify the plant and improve aspects like production and heat tolerance.

"Like humans, plants have complex traits and complex diseases," said Li, the study's first author. "In plants, those are things like drought tolerance and grain yield. Sometimes one specific gene can make a big change. Frequently, though, it involves multiple genes. Each gene has a small, modest effect on the trait and many genes are involved. This makes it really difficult to study."

Historically, scientists have analyzed an isolated region of a plant genome -- often taking a trial-and-error approach at finding what genes control what traits.

Instead, researchers approached the corn genome with a relatively new analysis method that is used to study the genome of humans. The method, called genome-wide associate studies -- or GWAS -- searches the entire genome for small, frequent variations that may influence the risk of a certain disease. This helps researchers pinpoint genes that are potentially problematic and may be the key in abnormal traits and diseases.

"Conducting routine, full-scale, genome-wide studies in crop plants remains challenging due to cost and genome complexity," said Schnable, the other senior author. "What we tried to get out of this study is a broad view of which regions of crop genomes should be examined in detail."

Using the GWAS method for multiple analyses and complementary methods in identifying genetic variants, researchers were able to find that, on average, 79 percent of detectable genetic signals are concentrated at previously defined genes and their promoter regions.

According to Yu, the percentage is a significant increase compared to looking at the gene regions alone.

"We used to think that genes are the only search priority and there were just many other less important or useless DNA sequences," Yu said. "But now we are starting to see that these other regions harbor some important genetic codes in them. Canvassing without prioritizing can be cost prohibitive, however, and efficient GWAS in crops with complex genomes still need to be carried out by taking advantage of a combination of genome technologies available."

###

---

[ | E-mail | Share ]

?

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Source: http://www.eurekalert.org/pub_releases/2012-12/ksu-sfp120412.php

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Rebels in Congo demand negotiations

GOMA, Congo (AP) ? Rebels believed to be backed by Rwanda said Sunday they would take back Congo's city of Goma if the government does not agree to negotiate with them by Monday.

The M23 rebels completed their withdrawal from the strategic eastern city on Saturday, in compliance with an agreement reached between the rebel group and a regional body.

"It pained us to withdraw from Goma after having lost men on the battlefield to conquer the city. But if it is the price for peace, we accept it," said Bertrand Bisimwa, the spokesman for M23's political branch. "There was no external pressure. Friends of Congo have advised us to give negotiations a chance."

The M23 rebels took the capital of North Kivu on Nov. 20, after battling the Congolese army for nearly a day. The group had defied two earlier ultimatums to leave Goma, raising the possibility they did not intend to leave and giving credence to a U.N. report accusing Rwanda of using the rebels as a proxy to annex territory in the mineral-rich eastern Congo.

The eight-month-old M23 rebellion is led by fighters from a now-defunct rebel group, who agreed to lay down their arms on March 23, 2009, in return for being allowed to join the ranks of the Congolese army. The rebellion, which takes its name from that accord, began in April when hundreds of soldiers defected from the military, saying that the terms of the agreement had not been respected.

Bisimwa said that by Sunday the rebels have not received information on whether the government had decided to negotiate.

"If negotiations have not started by tomorrow at 2 p.m. , 48 hours since our withdrawal, or if there are attacks on citizens in Goma, we will take back the city," he said. "We know that President Kabila is not trustworthy, but we want to give a chance for our friends to realize that too."

Despite the rebels' retreat from Goma, which was a pre-requisite set by the Congolese government for negotiations, President Joseph Kabila has not yet made clear if the government will negotiate.

"The head of state said that he will listen to the M23's grievances and re-evaluate the 2009 peace agreement, and then he will give an answer," said the spokesman for the government Lambert Mende. "No one will give them the chance," to return to Goma, he told The Associated Press.

The rebels have demanded the implementation of the 2009 accord that oversaw their integration in the army and the recognition of their ranks, and also positions in the government. Following their seizure of Goma, the rebels have also added a list of demands meant to re-establish good governance in Congo, such as the liberation of all political prisoners, the dissolution of the current electoral commission who was in charge during fraudulent elections in 2011, and the opening of negotiations inclusive of the civil society, the opposition and the diaspora.

But most analysts believe the origin of the rebellion is a fight over Congo's vast mineral wealth, a good chunk of which is found in the North Kivu province where Goma is the capital. Starting this spring, the fighters seized a series of small towns and villages in North Kivu, culminating with the capture of Goma, a population hub of 1 million and a key, mineral trading post.

"It's a vicious cycle in which these people rebel and then they are rewarded with high-ranking positions in the army and they can exploit our resources," said Thomas d'Acquin, the president of the civil society in North Kivu.

In Goma, people were worried that violence may flare up again soon if a compromise is not reached.

"We live in fear, it's unbearable," said 38-year-old resident Anatole Bilemba. "The M23 comes, they leave, the Congolese army will come back and then the M23 says they will too. How do we do anything?"

A security vacuum followed M23's departure from Goma, which has not yet been filled by the Congolese army. Only several hundred policemen are securing the city.

In Mugunga, a camp outside Goma, the U.N. confirmed that armed men raped six women and looted displaced people's belongings last night.

___

Associated Press reporter Saleh Mwanamilongo in Kinshasa, Congo contributed to this report.

Source: http://news.yahoo.com/rebels-congo-demand-negotiations-160835103.html

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Seven missing after Japan tunnel collapse starts fire

TOKYO (Reuters) - A tunnel on a heavily travelled highway in central Japan collapsed on Sunday, sending debris crashing down on cars, triggering a fire and leaving seven people missing, officials and media reported.

Network television footage showed black smoke billowing from the 4.7 km (2.8-mile) tunnel in Yamanashi prefecture, about 80 km (50 miles) west of Tokyo on the main road connecting the capital to western Japan.

Seven people were believed to be missing and two were injured, the fire service said. At least two cars were thought to be trapped.

Motorists described narrow escapes from falling debris, and a long walk through the darkness after abandoning their cars.

"When I was driving in the tunnel, concrete pieces fell down suddenly from the ceiling," a man in his 30s told public broadcaster NHK. "I saw a crushed car catching fire. I was frightened, left my car and walked for about an hour to get out of the tunnel."

The fire service said the blaze was extinguished about 11 a.m. - some three hours after the accident occurred. Rescue work was then suspended for fear of further collapses.

It was the worst such accident in Japan since 1996, when a tunnel collapsed and falling rocks crushed cars and a bus, killing 20 people.

NHK reporter Yoshio Goto, caught in Sunday's accident, hit the accelerator and managed to drive out.

"But it was a bit too late and pieces of ceiling fell on my car. I kept pressing the pedal and managed to get out," he said. "Then when I looked around, I saw half of the car ceiling was crushed."

One injured woman in her twenties told the fire service she had no idea what had happened to five others passengers from the car in which she was travelling.

(Reporting by Hideyuki Sano; Editing by Ron Popeski)

Source: http://news.yahoo.com/seven-missing-japan-tunnel-collapse-starts-fire-051230495.html

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