> Genetics in the News

Research in the January 2010 issue of Genetics reveals recent discoveries on how a cat develops spots vs. stripes that could help genetic researchers shed light on skin disorders. It demonstrates for the first time that at least three different genes are involved in the emergence of stripes, spots, and other markings on domestic cats. This study in cats may ultimately help science better understand the genetics behind hair and skin color in other mammals, which could lead to new therapeutic strategies to correct skin problems in people.

Researchers have identified a gene that is suspected as having a strong role in premenstrual dysphoric disorder PMDD) and its variants. Identified in Mice initially, scientists say that the common variant of BDNF, known as BDNF Met is carried by 20 - 30% of Caucasian women, and could help diagnose and treat mood disorders related to the menstrual cycle and menopause.

Ten mutations found on three different chromosomes have been identified in about 10% of all inherited cases. The findings, published in the New England Journal of Medicine was discovered after studies were performed on a Pakistani family. Although stuttering is linked to stress and anxiety, scientists have long suspected that between 50 and 75 % of all stuttering is genetically linked.

Researchers studying the effects of gambling risk behavior have directly correlated a link bewtween the willingness to take risks and genetic abnormalities in the amygdala section of the brain, already linked closely with the arousal of fear Studies performed on a control group of normal individuals which included two women with lesions in the amygdala revealed that the women were far more willing to risk money through gambling behaviour compared to healthy individuals with no such brain damage.

The latest American Journal of Respiratory and Critical Care Medicine reports that researchers have identified and located a gene network believed to be inked to obstructive sleep apnea in the tonsils of affected children. Apparently the genetic abnormality causes the tissues of the tonsils to wildly proliferate causing blockages of breathing and upper airway dysfunction during sleep/

A recent study by Kings College London and University of Leicester have found a genetic variants that may explain why some people appear older than they actually are and seem to age faster. Research in this area may help determine why a person's chronological age and their biological age may be different.

A genetic circuit – a type of control circuit analogous to those that exist in electronic systems – consists of a network of different genes that are able to interactively stimulate or inhibit each other. A cell uses such circuits to switch certain genes on and off and thus control the proteins that it produces. Now scientists in Europe and the US have shown that, at least in bacteria, the rate of cellular growth influences the functioning of the genetic circuits that an organism’s cells contain. Such a feedback dynamic between the regulation of cells and their growth increases the complexity of scientific understanding of how genetic circuits control the activity of genes and thus the function of cells and organisms. Scientists hope to one day in the future understand gene regulation sufficiently to actually design synthetic genetic circuits and potentially open up new frontiers of genetic-related medicine.

Scientists have been able to map the genes of about 60 animals such as the cat, dog, and mouse, and are now looking to launch a project to map the genes of about 10,000 other vertebrate animals. This data could help researchers measure the genetic diversity of endangered animal populations, and also make it possible to retrace detailed steps in the evolution of vertebrates. This project is now available and more easily attainable because of the decrease in cost of the process.

Epigenetics is the study of how life experiences or occurrences can effect the genes of DNA, turning them "off" or "on". New studies in this field relate methylation of genes to conditions such as heart disease and lung cancer. Smoking seems to cause methylation in some helpful genes, while doing things such as eating leafy vegetables and taking vitamins appears to decrease the amount of methylation in these genes. The author believes that "epigenetics will turn out to be more useful in understanding disease than plain old genetics".

Scientists have discovered the family of genes that decides when and how an embryo distinguishes left from right. These genes also determine the location and positioning of organs during development. If the genes are not present and the organs develop on the opposite side than normal, for example, the organisms survival rate goes down.

Two very dissimilar mammals can echolocate, thanks to a shared gene called prestin. That these species evolved differently but share the same derivation of a gene is what makes this finding so unique and significant. Moreover, understanding and resolving human hearing loss due to mutations in the prestin gene is just one of the myriad of ways this information may assist scientists. Researches conducting independent studies at two different institutions reported their findings in a recent issue of “Current Biology”.

About 8 percent of human genetic material comes from a virus and not from our ancestors, according to an article by University of Texas at Arlington biology professor Cédric Feschotte, published in the Jan. 7, 2010 issue of Nature magazine.

According to Professor Svante Paabo, director of genetics at the Max Planck Institute for Evolutionary Anthropology, Neanderthals and modern humans had sex across the species barrier. The professor has been using DNA retrieved from fossils to piece together the entire Neanderthal genome, and plans on publishing his findings soon. He recently told a conference that he was sure the two species had had sex, but still had questions as to how "productive" the relations had been. "What I'm really interested in is, did we have children back then and did those children contribute to our variation today?" he said. "I'm sure that they had sex, but did it give offspring that contributed to us? We will be able to answer quite rigorously with the new [Neanderthal genome] sequence." What remains a mystery is what Paleolithic brewery provided the catalyst for these stone age hook-ups.

"A hundred thousand elderly Californians (average age 65) will be gene sequenced by the state using samples of their saliva. This will be the first time such a large group has had their genes sequenced, and it is hoped to be a goldmine for genetic maladies — from cardiovascular diseases to diabetes to even the diseases associated with aging. Kaiser Permanente patients will be involved, and they are aiming to have half a million samples ready by 2013.

Scientists claim to have identified a master gene which is able to transform blood stem cells into disease-fighting immune cells. The hope is that this discovery will allow for new treatments for cancer. The researchers have 'knocked out' the gene in question, known as E4bp4, in a mouse model, creating the world's first animal model entirely lacking NK cells, but with all other blood cells and immune cells intact. This breakthrough model should help solve the mystery of the role that Natural Killer cells play in autoimmune diseases, such as diabetes and multiple sclerosis. Some scientists think that these diseases are caused by malfunctioning NK cells that turn on the body and attack healthy cells, causing disease instead of fighting it. Clarifying NK cells' role could lead to new ways of treating these conditions.

Researchers at Boston University have developed a way to predict the behavior or different DNA segments and make synthetic biology a little bit more reliable. James Collins and colleagues have built libraries of component parts and a mathematical modeling system to help them predict the behavior of parts of a gene network. Like any self-respected bunch of grad students, they decided to demonstrate the approach by making beer. They engineered gene promoters to control when flocculation occurs in brewers yeast, which allowed them to finely control the flavor of the resulting beer.

State Senator Danny Martiny (R-Kenner) will introduce a bill to the Louisiana legislature on April 27 to make it illegal to "create or attempt to create a human-animal hybrid, ... transfer or attempt to transfer a human embryo into a non-human womb ... (or) transfer or attempt to transfer a non-human embryo into a human womb."' With budget cuts all around, our struggling state is concerned with the eminent danger of human-animal hybrids. The upside is that the odds of the Louisiana becoming the Bayous of Dr. Boudreaux are now even slimmer

The DNA-Rainbow project apparently enjoy playing around with genome data. After creating amazing photos from the human DNA code they are now transforming it into audio and streaming them on the Internet. Every base is read and broadcasted instead of displaying it as a color. Seemingly this project will last a while. After some math it was estimated that the project will take more than 23.5 years to air the whole human genome sequence.

"Researchers at UCLA have accomplished a task that has long vexed stem cell researchers: They've created the first electronically active neurons from induced pluripotent stem (iPS) cells. This is a great leap forward for stem cell researchers, who can apply these neurons to the study of neurodegenerative diseases."

A new study, published in Nature Genetics by an international team of scientists, that tells a scary story: globally, 1% of the population carry a gene mutation that is almost guaranteed to lead to some form of heart problems. On the Indian subcontinent, the prevalence is 4%. The mutation is a 25-letter deletion of DNA data on the heart protein gene MYBPC3, believed to have arisen in India 30,000 years ago. The researchers say that the mutation wasn't selected out of the population because its effects don't occur until after the childbearing years. The article mentions a prediction that "by 2010 India's population will suffer approximately 60% of the world's heart disease.

After baring his DNA for the world to see, Steven Pinker follows up in the NYT Magazine with his take on the coming era of consumer genetics. Pinker comes away less wide-eyed than Time Magazine about the current predictive ability of $399 genetic tests, but is convinced enough to opt out of learning whether he has a gene that increases the risk of Alzheimer's and believes that genetic-testing-for-the-masses may hasten the arrival of national health insurance ('piecemeal insurance is not viable in a world in which insurers can cherry-pick the most risk-free customers'). Pinker believes that personal genomics is just too much fun to ban, but for now suggests: 'if you want to know whether you are at risk for high cholesterol, have your cholesterol measured; if you want to know whether you are good at math, take a math test.

A new method of DNA sequencing published this week in science identifies incorporation of single bases by fluorescence. This has been shown to increase read lengths from 20 bases (454 sequencing) to >4000 bases, with a 99.3% accuracy. Single molecule reading can reduce costs and increase the rate at which reads can be performed. 'So far, the team has built a chip housing 3000 ZMWs [waveguides], which the company hopes will hit the market in 2010. By 2013, it aims to squeeze a million ZMWs [waveguides] onto a single chip and observe DNA being assembled in each simultaneously. Company founder Stephen Turner estimates that such a chip would be able to sequence an entire human genome in under half an hour to 99.999 per cent accuracy for under $1000.

CNN reports on a simple test to determine the presence of genes linked to Prostate Cancer. These five genes, if present, can increase the risk of prostate cancer up to nine times. 'More than 25,000 American men will die from prostate cancer this year. But prostate cancer can be treated successfully if the disease is caught early. A blood test that can detect whether a man is at high risk for developing prostate cancer is on the horizon. The study was published in the February 28, 2008, issue of the New England Journal of Medicine.' It turns out the company actually wants to test saliva, making the test significantly easier and more convenient. Compare this to the tests available for BRCA, the so called Breast Cancer genes. Finding you have the gene can be devastating, but knowing well in advance of developing cancer allows many more options to be considered.

The Apple computer was invented in a garage. Same with the Google search engine. Now, tinkerers are working at home with the basic building blocks of life itself. Using homemade lab equipment and the wealth of scientific knowledge available online, these hobbyists are trying to create new life forms through genetic engineering a field long dominated by Ph.D.s toiling in university and corporate laboratories. Reader resistant has a few ideas about how to use this sort of lab: Personally, I'd like to whip up a reasonably long-lasting and durable paint made with dye based on squid genes that glows brightly enough to allow 'guide lines' to be daubed along hallway baseboards, powered by a very low trickle of electricity. Plus, a harmless glowing yogurt would make for a cool prank.

New large-scale studies of DNA are causing a rethinking of the very nature of genes. A typical gene is no longer conceived of as a single chunk of DNA encoding a single protein. It turns out, for example, that several different proteins may be produced from a single stretch of DNA. Most of the molecules produced from DNA may not even be proteins, but rather RNA. The familiar double helix of DNA no longer has a monopoly on heredity: other molecules clinging to DNA can produce striking differences between two organisms with the same genes — and those molecules can be inherited along with DNA. Scientists have been working on exploring the 98% of the genome not identified as the protein coding region. One of the biggest of these projects is an effort called the Encyclopedia of DNA Elements, or 'Encode.' And its analysis of only 1% of the genome reveal the genome to be full of genes that are deeply weird, at least by the traditional standard of what a gene is supposed to be and do. The Encode team estimates that the average protein-coding region produces 5.7 different transcripts. Different kinds of cells appear to produce different transcripts from the same gene. And it gets even weirder. Our DNA is studded with millions of proteins and other molecules, which determine which genes can produce transcripts and which cannot. New cells inherit those molecules along with DNA. In other words, heredity can flow through a second channel.

A paper detailing the sequencing of the first human cancer genome will be published in the 6 November 2008 issue of Nature. This is not only the first cancer genome published, it is the first female genome as well. You can read the paper's abstract, DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome, or the story in Science News. This issue of Nature also has articles on the sequencing of the first African and Asian genomes. The sequencing in all three articles was done using the Illumina Genome Analyzer, one of the massively parallel, next-generation genome sequencing platforms.

The Personal Genome Project has released the data sets and descriptions of traits, ethnic background and other information of the first ten volunteers, which include the project director and nine other people with backgrounds in genetics, medicine, and biotechnology. While the human genome was first sequenced at the beginning of this decade, what's special about this project is these 10 participants are having their names, genome, and other personal data gleaned from questionnaires shared openly on the Web, where interested researchers can freely access them. One of the ultimate aims of the project is to create a public database of 100,000 volunteers that researchers and other parties can use to determine what traits, diseases or other characteristics are associated with specific genetic markers. When asked why volunteers are requested to attach their names to the Web records, the project director said the data could be used by researchers in other fields outside of genetics, including forensic science and historical research. While this project opens the door for some interesting and potentially life-saving research, there may also be difficulties or problems for people whose records are posted on the Web. Would you participate? Would you share your name, along with your genome, disease history, and traits? Why or why not?

University of Pennsylvania biologists have discovered a mutation in fruit flies aptly named the 'couch potato' gene that allows them to simply chill out — entering a mild state of quasi-hibernation known as diapause, when winter arrives. 'It's not like they're bears sleeping in a cave,' says Paul Schmidt. 'They just look like they're a little bit more sluggish.' The couch potato gene, first discovered in the early 1990s, got its nickname because flies with mutations in the gene became really sluggish and behaved abnormally. Little is known about the underlying evolutionary genetic architecture, but in diapause, the slacking off is far less severe. The flies' bodily functions slow down, and they are better able to tolerate stress. The fruit fly gene may have implications for human health, as it can help biologists study the function of the nervous system and diseases such as epilepsy, refuting a recent statement by a political candidate that fruit fly research has 'little or nothing to do with the public good.

With shocking disregard to their personal privacy, at least 10 people volunteered to release their entire medical records and DNA sequences in order to get their DNA decoded and analyzed. 'They include Steven Pinker, the prominent Harvard University psychologist and author, Esther Dyson, a trainee astronaut and Misha Angrist, an assistant professor at Duke University.. They have each donated a piece of skin to the project at Harvard University and agreed to have the results posted on the internet. The three are among the first 10 volunteers in the Personal Genome Project, a study at Harvard University Medical School aimed at challenging the conventional wisdom that the secrets of our genes are best kept to ourselves. The goal of the project is to speed medical research by dispensing with the elaborate precautions traditionally taken to protect the privacy of human subjects

German researchers at the Christian-Albrechts-Universität zu Kiel (CAU) think they've proved that genetic information can be controlled by light. The group studied the interaction between the four DNA bases — adenine (A), cytosine (C), guanine (G), and thymine (T) — by using femtosecond time-resolved fluorescence spectroscopy. The researchers think that they've demonstrated that DNA strands differ in their light sensitivity depending on their base sequences. The team thinks that it might be possible in the future to repair gene mutations using laser radiation. One of the project leaders said that 'it might even be possible under some circumstances to make transistors from DNA that would work through the hydrogen bonds.' It's not the first time I've heard about DNA computing, but this new approach looks promising.