Daily Archives: October 2, 2012

GENETICS Journal Highlights for October 2012

Posted: October 2, 2012 at 7:17 am

Newswise Bethesda, MDOctober 1, 2012 Listed below are the selected highlights for the October 2012 issue of the Genetics Society of Americas journal, GENETICS. The October issue is available online at http://www.genetics.org/content/current. Please credit GENETICS, Vol. 192, October 2012, Copyright 2012.

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ISSUE HIGHLIGHTS

Energy-dependent modulation of glucagon-like signaling in Drosophila via the AMP-activated protein kinase, pp. 457466 Jason T. Braco, Emily L. Gillespie, Gregory E. Alberto, Jay E. Brenman, and Erik C. Johnson How organisms maintain energetic homeostasis is unclear. These authors show that the actions of a known cellular sensor of energythe AMP-activated protein kinase (AMPK)cause release of a glucagon-like hormone in Drosophila. They further show that AMPK regulates secretion of adipokinetic hormone. This suggests new roles and targets for AMPK and suggests metabolic networks are organized similarly throughout Metazoa.

The relation of codon bias to tissue-specific gene expression in Arabidopsis thaliana, pp. 641649 Salvatore Camiolo, Lorenzo Farina, and Andrea Porceddu This article reports systematic differences in usage of synonymous codons in Arabidopsis thaliana genes whose expression is tissue specific. The authors propose that codon bias evolves as an adaptive response to the different abundances of tRNAs in different tissues. Integrity and function of the Saccharomyces cerevisiae spindle pole body depends on connections between the membrane proteins Ndc1, Rtn1, and Yop1, pp. 441455 Amanda K. Casey, T. Renee Dawson, Jingjing Chen, Jennifer M. Friederichs, Sue L. Jaspersen, and Susan R. Wente Budding yeast face an unusual challenge during cell division: they must segregate their chromosomes while the nuclear envelope remains intact. Consequently, mitosis begins with insertion of the duplicated spindle pole body (a.k.a. centrosome) into the nuclear envelope, a process that parallels the generation of new nuclear pore complexes. These authors report data that suggest new mechanisms for linking nuclear division and transport.

Cellular memory of acquired stress resistance in Saccharomyces cerevisiae, pp. 495505 Qiaoning Guan, Suraiya Haroon, Diego Gonzlez Bravo, Jessica L. Will, and Audrey P. Gasch Cells can retain memory of prior experiences that influence future behaviors. Here, the authors show that budding yeast retains a multifaceted memory of prior stress treatment. Cells pretreated with salt retain peroxide tolerance for several generations after removal of the initial stressor. This is due to long-lived catalase, produced during salt treatment and distributed to daughter cells. These cells also display transcriptional memory dependent on the nuclear pore subunit Nup42 that functions to promote reacquisition of stress tolerance in future stress cycles.

Genomic variation in natural populations of Drosophila melanogaster, pp. 533598 Charles H. Langley, Kristian Stevens, Charis Cardeno, Yuh Chwen G. Lee, Daniel R. Schrider, John E. Pool, Sasha A. Langley, Charlyn Suarez, Russell B. Corbett-Detig, Bryan Kolaczkowski, Shu Fang, Phillip M. Nista, Alisha K. Holloway, Andrew D. Kern, Colin N. Dewey, Yun S. Song, Matthew W. Hahn, and David J. Begun This article greatly extends studies of population genetic variation in natural populations of Drosophila melanogaster, which have played an important role in the development of evolutionary theory. The authors describe genome sequences of 43 individuals taken from two natural populations of D. melanogaster. The genetic polymorphism, divergence, and copy-number variation revealed in these data are presented at several scales, providing unprecedented insight into forces shaping genome polymorphism and divergence.

Estimating allele age and selection coefficient from time-serial data, pp. 599607 Anna-Sapfo Malaspinas, Orestis Malaspinas, Steven N. Evans, and Montgomery Slatkin The relative importance of the four fundamental processes driving evolutiongenetic drift, natural selection, migration, and mutationremains undetermined. These authors propose a new approach to estimate the selection coefficient and the allele age of time serial data. They apply their methodology to ancient sequences of a horse coat color gene and demonstrate that the causative allele existed as a rare segregating variant prior to domestication. This illuminates the debate on the relative importance of new vs. standing variation in adaptation and domestication. DNA replication origin function is promoted by H3K4 di-methylation in Saccharomyces cerevisiae, pp. 371384 Lindsay F. Rizzardi, Elizabeth S. Dorn, Brian D. Strahl, and Jeanette Gowen Cook What defines a DNA replication origin? It is becoming increasingly apparent that post-translational modifications of nucleosomes near replication origins help mark them and control their activity. The genetic analysis presented in this article implicates di-methylated histone H3 lysine 4 (stimulated by histone H2B monoubiquitination) as part of the definition of active replication origins. Since these histone modifications are highly conserved, these findings are relevant to genome organization in other eukaryotes.

Comparative oncogenomics implicates the Neurofibromin 1 gene (NF1) as a breast cancer driver, pp. 385396 Marsha D. Wallace, Adam D. Pfefferle, Lishuang Shen, Adrian J. McNairn, Ethan G. Cerami, Barbara L. Fallon, Vera D. Rinaldi, Teresa L. Southard, Charles M. Perou, and John C. Schimenti This study of a mouse model of genomic instability indicates that NF1 (Neurofibromin 1) deficiency can drive breast cancer. ~ 63,000 people in the United States annually will develop breast cancer with an NF1 deficiency. Together with evidence that NF1 depletion confers resistance of human breast cancer cells to tamoxifen, these findings suggest therapeutic strategies for patients with NF1-deleted tumors.

ABOUT GENETICS: Since 1916, GENETICS (http://www.genetics.org/) has covered high quality, original research on a range of topics bearing on inheritance, including population and evolutionary genetics, complex traits, developmental and behavioral genetics, cellular genetics, gene expression, genome integrity and transmission, and genome and systems biology. GENETICS, a peer-reviewed, peer-edited journal of the Genetics Society of America is one of the world's most cited journals in genetics and heredity.

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GENETICS Journal Highlights for October 2012

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300th person exonerated by DNA evidence

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Published: Oct. 2, 2012 at 1:56 AM

LOS ANGELES, Oct. 2 (UPI) -- A 38-year-old Louisiana man on death row became the 300th prisoner to be exonerated by DNA evidence, officials said.

"It feels good. I'm still processing it," Damon Thibodeaux told the Los Angeles Times.

Thibodeaux was convicted in 1997 and sentenced to death after confessing to the rape and murder of his 14-year-old step-cousin, Crystal Champagne, on July 19, 1996.

Thibodeaux, who said he was coerced into providing a false confession after 9 hours of interrogation, was ordered freed Friday by a Jefferson Parish judge after 16 years of incarceration.

"This is a tragic illustration of why law enforcement must record the entire interrogation of any witness or potential suspect in any investigation involving a serious crime," said Steve Kaplan, one of Thibodeaux's attorneys.

In 2007, Thibodeaux's legal team convinced Jefferson Parish District Attorney Paul Connick to take another look at the case. DNA testing indicated Crystal had not been raped and Thibodeaux was not her killer.

Of the 300 prisoners exonerated, 18 had been on death row, attorneys for the Innocence Project said.

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IntegenX Announces U.S. Launch of the RapidHIT™ 200 System – Rapid DNA Technology That Will Revolutionize the Use of …

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SAN DIEGO & PLEASANTON, Calif.--(BUSINESS WIRE)--

IntegenX Inc., a leading developer of rapid human DNA identification technology, today announced the commercial availability of its RapidHIT 200 Human DNA Identification System in the U.S. at the 2012 International Association of Chiefs of Police Conference and Exposition in San Diego, California. Representatives from IntegenX are on site at the meeting to demonstrate the self-contained desktop system, which is the first commercially available rapid DNA device.

Rapid DNA analysis is a transformative technology that promises to fundamentally change the way investigations are conducted by enabling law enforcement personnel to quickly and definitively link a suspects DNA to a crime scene, or eliminate suspicion, all while the suspect is still in police custody.

The RapidHIT 200 System provides actionable intelligence by automating and accelerating the process of producing standardized DNA profiles from cheek swabs in about 90 minutes. This is compared to a process that currently takes up to eight instruments and at least a day in a specialized lab, with results typically returned to police in weeks to months.

Stevan Jovanovich, President and Chief Executive Officer of IntegenX commented: The availability of this technology now will revolutionize the use of DNA in law enforcement. We see the implementation of rapid DNA as reinforcing the partnership between crime labs and police putting more power in their hands to get DNA results faster. Law enforcement agencies have been waiting a long time for this capability. We are proud to be the first to deliver it and to say Rapid DNA is here!

Numerous international law enforcement and security agencies use DNA-based human identification to make informed decisions regarding the arrest, detention or release of suspects, as well as to analyze crime scene evidence. By integrating what was until now a multi-step, multi-system process, rapid DNA technology has the potential to accelerate and expand the use of proven DNA technologies to help the efforts of law enforcement, homeland security, and defense to create safer communities and a safer world.

One of the first police departments to place an order for the RapidHIT 200 System is Palm Bay, Florida, an organization known for its progressive use of DNA to solve high volume crimes.

We are extremely proud of what we have been able to accomplish so far using DNA, and expect the RapidHIT 200 System to greatly accelerate our efforts, said Doug Muldoon, Police Chief of Palm Bay. Based on our experience, the more we can use this ultimate identification tool in our work, the more our crime rates go down and our case closure rates go up. That is good news for creating safer communities for our citizens. Rapid DNA will enhance our methods for dealing with high volume crimes using our locally created database.

This is one of the best crime fighting tools we have seen in decades. It allows law enforcement to identify the bad guys and put them in jail. It also protects the innocent from going to jail for a crime they did not commit, added Chief Muldoon.

Dr. Jovanovich will speak along with Chief Muldoon and the Denver District Attorney, Mitch Morrissey, during a press conference today at the IACP meeting at 9:00 a.m. PT. For more information about IACP, please visit: http://www.theiacpconference.org.

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Rape DNA process 'not adequate'

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1 October 2012 Last updated at 12:38 ET

Forensic procedures carried out by a private firm which wrongly linked the DNA of a man to a rape were "not adequate", a report says.

Adam Scott, from Devon, was held for a couple of months after being accused of raping a woman in Manchester.

The charges were dropped when it emerged a DNA sample had been contaminated at LGC Forensics.

Forensic Science Regulator Andrew Rennison said Mr Scott was an "innocent victim of avoidable contamination".

LGC Forensics said that it "deeply regrets the incident of contamination".

Mr Scott was charged in 23 October 2011 after a plastic tray containing a sample of his DNA was re-used in the analysis of a swab from a rape victim in Plant Hill Park, Blackley. The result of that test linked him to the crime.

The report said police investigating the rape allegations raised concerns seven weeks later because phone records suggested Mr Scott had been in Plymouth a few hours after the alleged attack.

In March this year, the government wound up the Forensic Science Service, leaving private companies and police laboratories to take on its work.

That month, news emerged of the DNA mix-up involving Adam Scott at the Teddington lab of the biggest private provider, LGC.

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Surprising differences between apples and pears

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Analysis of the genome sequence of the fruit known as the gift of the gods has shown that pears have some surprising differences to apple at the DNA level.

The European pear genome - sequenced by a team of scientists at Plant & Food Research in New Zealand and the Istituto Agrario di San Michele allAdige (IASMA) in Italy - has 600 million base pairs of DNA encoding around 51,000 genes on 17 chromosomes. By comparison, apple has 25% more DNA (750 million base pairs) with 57,000 genes on the same number of chromosomes. Many of the differences between the two correspond to areas of the genome that switch genes on or off.

"In ancient Greece, pears were lauded by the poet Homer as the gift of the gods, thanks to their melting texture and the unmistakeable aromatic pear flavour," says Dr David Chagn, the leader of the project. "We hope that by sequencing the genome of the European pear, with its melting flesh and wonderful flavours, and comparing it with the genome sequence of apple and Asian pears, which tend to be crisper, we will be able to identify how flesh texture in these fruits is controlled. Ultimately, this will allow us to develop tools to speed up the breeding of new varieties of pear with novel combinations of texture and flavours."

Most surprising to the science team was that the number of genes controlling texture, which was expected to be higher in pears due to the way the flesh melts in the mouth, were the same as that of apple. However, the research showed that in pears one family of these genes in particular, known as expansins, was significantly more active.

Dr Sue Gardiner, the leader of Plant & Food Researchs Breeding Technologies Group, believes the project is one of the fastest genome sequencing projects undertaken so far, taking only two years from inception to completion.

"This genome sequence project was led by scientists at Plant & Food Research, and the hard work and strong collaboration between all the scientists involved, both in Italy and New Zealand, has meant the sequence has taken much less time to deliver than other genome sequencing projects," she says.

Apples and pears evolved from a common ancestor around 35-50 million years ago, about 20 million years after this ancestor diverged from other fruits in the same family, such as strawberries and peaches. This divergence from other members of the Rosaceae family was caused by a duplication of the genome and corresponds to an era of major evolutionary activity, thought to be a genetic survival response to an event that caused the extinction of many species, including the dinosaurs.

Dr Gardiner is presenting the findings of the research at the Rosaceous Genomics Conference at IASMA in Trento, Italy this week.

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What whales tell us about the evolution of menopause

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Scientists have been hard pressed to explain why menopause happens so early in humans there's no obvious evolutionary advantage to having your reproductive system shut down decades before the rest of your body.

Most other long-lived animals keep reproducing until the end. Female turtles can lay fertile eggs at 100. Our primate relatives, too, keep pumping out young until they are near death.

Now, scientists are finding clues to our unusual life pattern in killer whales - one of the few other species in which females get decades of so-called post-reproductive life. What they found was a surprising connection between longevity of mothers and their sons.

Biologist Emma Foster of Exeter University in England said that females become fertile around 12, have a calf every 3 to 5 years, and then stop reproducing in their late 30s and early 40s. After that they can live many years, sometimes to 90 and beyond. "No other animals have such long post-reproductive lives," she said, except for pilot whales and humans.

And while there's a small difference between the sexes in human longevity, it's extreme for whales, with females living to 90 and males rarely getting past 40. Scientists have little understanding of why this would be.

In puzzling over this anthropologists have proposed what they call the grandmother hypothesis - the possibility that post-menopausal women gain an evolutionary edge by helping their existing children and grandchildren.

In Darwinian terms, after all, no matter how many offspring you have, you'll still be a dead end unless your offspring have surviving offspring.

Ultimately, according to the hypothesis, grandmotherly support could allow women to pass on more copies of their genes than by investing the same energy in continuing to have their own babies.

The other possibility is that menopause is some sort of evolutionary byproduct that can occur in long-lived animals.

Scientists have tried to test the grandmother hypothesis by studying hunter-gatherer populations - people representing the way humans lived through most of our evolutionary past. Results over the years have been mixed, but work in the last decade has supported the idea, said Foster.

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Secretary-General Ban Ki-moon

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New York,1October2012 - Secretary-General's message on International Day of Older Persons

Rapid population ageing and a steady increase in human longevity worldwide represent one of the greatest social, economic and political transformations of our time. These demographic changes will affect every community, family and person. They demand that we rethink how individuals live, work, plan and learn throughout their lifetimes, and that we re-invent how societies manage themselves.

As we embark on shaping the post-2015 United Nations development agenda, we must envision a new paradigm that aligns demographic ageing with economic and social growth and protects the human rights of older persons. We are all -- individually and collectively -- responsible for the inclusion of older persons in society, whether through developing accessible transportation and communities, ensuring the availability of age-appropriate health care and social services, or providing an adequate social protection floor.

This year marks the 10th anniversary of the adoption of the Madrid International Plan of Action on Ageing. As the proportion of older persons in society grows, the bold vision it put forward -- of building a society for all ages is more relevant than ever.

Longevity is a public health achievement, not a social or economic liability. On this International Day of Older Persons, let us pledge to ensure the well-being of older persons and to enlist their meaningful participation in society so we can all benefit from their knowledge and ability.

Statements on 1October2012

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Secretary-General Ban Ki-moon

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Novartis Progresses with AIN457

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Switzerland-based pharmaceutical company, Novartis AG (NVS) recently announced phase II data on its pipeline candidate, AIN457 (secukinumab), which is being developed for the treatment of moderate-to-severe plaque psoriasis on the hands, feet and nails.

Data from the double-blind phase II study showed that during the first month, weekly treatment with AIN457 helped reduce pain associated with moderate-to-severe plaque psoriasis on the hand and feet almost three times more than placebo (54.3% versus 19.2%).

Additionally, after 12 weeks of treatment with AIN457, 39% of the patients experienced either clear or minimal psoriasis. AIN457 was also found to reduce signs and symptoms of finger nail psoriasis in patients, when compared to placebo.

Further data presented at the European Academy of Dermatology and Venereology (:EADV), by Novartis, for the relief in signs and symptoms of moderate-to-severe plaque psoriasis showed that 12 weeks of treatment with AIN457, improved the quality of life (skin-related) in 25 times more patients in comparison to placebo.

Novartis stated in its press release that plaque psoriasis affects about 2% of the worlds population, out of which more than one third of patients suffer from its moderate-to-severe form.

Novartis is currently on track with pivotal phase III studies on AIN457 and expects data in 2013. The company is planning to file for regulatory approval once phase III results are available.

Novartis is also studying AIN457 in phase II trials for the treatment of multiple sclerosis.

We note already approved drugs for the treatment of moderate-to-severe plaque psoriasis include Johnson & Johnsons (JNJ) Stelara, Abbott Laboratories (ABT) Humira and Pfizer Inc. and Amgen Inc.s (PFE/AMGN) Enbrel.

Our Recommendation

Currently, we have a Neutral recommendation on Novartis. The company carries a Zacks #3 Rank (Hold rating) in the short run.

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Study: Psoriasis patients more prone to diabetes

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Research links psoriasis, Type 2 diabetes

While psoriasis and Type 2 diabetes seem like completely different medical problems, a new study of more than 100,000 psoriasis patients shows there is a link, and doctors are taking note.

Psoriasis is caused by an imbalance in the immune system, and it affects 2 percent to 4 percent of the population worldwide. The symptoms of psoriasis include red, scaly, itchy patches on the skin.

Mercy Medical Center dermatologist Dr. Janet Lin said psoriasis patients have several other health issues they need to keep their eye on, including a new one researchers are just learning about.

"Psoriasis is an independent risk factor for heart disease, for stroke, for obesity and for depression, and now they're even finding that if you have severe psoriasis, you're twice as likely to develop Type 2 diabetes," Lin said.

The study was done in the United Kingdom and published earlier this year in the "Archives of Dermatology."

"The most recent studies show there was an increased risk with the severity of the psoriasis. We think that's due to inflammation in the blood stream. The psoriasis releases some markers, increases inflammation and leads to insulin resistance and, eventually, Type 2 diabetes," said Dr. Amber Taylor, the director of the Diabetes Center at Mercy.

She said although the risk is fairly low for most psoriasis patients, they should still be screened.

Brenda Phipps said she's been suffering with psoriasis for 16 years.

"It takes a toll on my life, daily. I have my good days, and I have my bad days. It's very depressing," she said.

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Translational Regenerative Medicine: Market Prospects 2012-2022

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Translational Regenerative Medicine: Market Prospects 2012-2022

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