Despite CNET&#8217;s assertion last week that Bigfoot couldn&#8217;t possibly be a hoax because people always bring their A game to Palo Alto, the carcass in the ice has turned out to be a rubber gorilla suit. And the freezer wasn&#8217;t that big either.
Sorry, Bigfoot believers, this means the DNA evidence presented at last week&#8217;s press conference almost certainly came from one or more non-Bigfoot sources, and probably not from a Giant Bipedal Possum of northern Georgia either.
With websites <a href="http://news.google.com/news?hl=en&#038;client=firefox-a&#038;rls=org.mozilla:en-US:official&#038;hs=otq&#038;q=bigfoot%20hoax&#038;um=1&#038;ie=UTF-8&#038;sa=N&#038;tab=wn" target="_blank" rel="noopener noreferrer">around the world</a> gleefully spreading the news, it&#8217;s perhaps best to let professional Bigfoot hunter Tom Biscardi – who arranged last week&#8217;s Palo Alto press extravaganza – speak for himself. But as it seems Biscardi wasn&#8217;t present at The Thawing, he&#8217;s deferred the task to someone else.
Here then is part of the eyewitness account from Tom Kulls of SquatchDetective.com, as <a href="http://www.searchingforbigfoot.com/" target="_blank" rel="noopener noreferrer">posted</a> on Biscardi&#8217;s site:
&#8220;On August 17th, 2008 Searching for Bigfoot Team Director of Field Operations, TJ Biscardi [Tom&#8217;s son] and myself, were up early to discover that some hair was now exposed. I extracted some from the alleged corpse and examined it and had some concerns. Bob Schmalzbach arrived and concurred. We burned said sample and said hair sample melted into a ball uncharacteristic of hair.
At that time we contacted Mr. Biscardi who gave us permission to begin an expedited melting process. We set up a salamander [portable] heater to heat the freezer. Within one hour we were able to see the partially exposed head, as I was now able to touch it, I was able to feel that it seemed mostly firm, but unusually hollow in one small section. This was yet another ominous sign. Within the next hour of thaw, a break appeared up near the feet area. As the team and I began examining this area near the feet, I observed the foot which looked unnatural, reached in and confirmed it was a rubber foot.&#8221;
Science in action.

23andMe Blog

23andMe Blog Team

Defrosted Disappointment

Throughout the history of our species there has been one constant:   movement.   Since the origin of Homo sapiens nearly 200,000 years ago in East Africa, humans have journeyed around the globe, ultimately inhabiting every continent save Antarctica. Scientists have traditionally used archaeology, and more recently genetics, to understand the timing and scope of these ancient migrations.   The field of historical linguistics has also been used in the same way,   reasoning that if people migrated to new regions, they would have brought their languages with them.   In this way, linguistics can be used as an additional resource in understanding our species’ past movements. However, this concept is rarely — if ever — that straightforward.   For example, a language might spread from local population to local population, while the original speakers of the language stayed put.   This concept, called ‘cultural diffusion’ is at the core of many debates about our species’ prehistory:   did people (and therefore their genes) migrate to a new region, or was it just a transfer of cultural traits (such as language) from one region to the next?

There are two famous examples in human prehistory that delved deep into this very question.
<h6> Bantu Expansions in sub-Saharan Africa</h6>
 About 5,000 years ago, the majority of sub-Saharan African peoples still relied on hunting, gathering, and foraging as their main source of food.   But some people in west-central Africa were developing new techniques of survival.   They began to experiment with herding and agriculture, cultivating the yams, legumes, peppers, and gourds that would became staples of a sub-Saharan African diet.   Then, about 4,000 years ago, they began to move.   As they traveled over a period of centuries, they both displaced and absorbed groups that were already living throughout Africa.   The languages that they brought with them from their ancestral homeland, belonging to the Bantu family, also spread throughout sub-Saharan Africa.   Today the majority of sub-Saharan African languages are Bantu. What both genetics and linguistics have told us about the Bantu expansions is that it was an expansion of both peoples and cultures.   Though these early Bantu speakers may have intermarried as they expanded,   their genetic signature still shows West African ancestry.   The distribution of Bantu languages throughout sub-Saharan Africa confirms this prehistoric migration.   In fact, this example marks one of the most straightforward instances of a combined genetic and cultural expansion.  
<h6> The Spread of Agriculture and Indo-European Languages</h6>
 Unfortunately, the spread of agriculture from the Near East into Europe and its connection to the spread of Indo-European languages is far more complicated.   Agriculture is believed to have originated in the Near East about 13,000 years ago.   Starting about 10,000 years ago, the archaeological record indicates that the practice expanded westward into Europe. By 9,000 years ago, agriculture existed in Greece.   By 5,000 years ago it had reached Scandinavia. But was this spread of technology accompanied by farmers themselves, as in the Bantu migrations?   Linguists felt they had the answer: the vast majority of languages spoken in Europe today are members of the Indo-European language family.   Languages such as Greek, Latin, Celtic, and English all belong to this group.   In fact, only a few isolated European languages (such as Basque and Finnish) are unrelated.   Linguists argued that the geographical origin for this language family was probably somewhere in the Near East or Caucasus Mountains, and that these languages spread — along with the farmers themselves — into Europe, replacing the older languages that were already in existence.   The archaeology appeared to support this idea, and soon many scholars had argued for an expansion of agriculturalists from the Near East. However, the genetics told a somewhat different story.   Though there are genetic footprints in Europe of these early Near Eastern agriculturalists, there are pre-agricultural genetic footprints as well.   In fact, more Europeans trace their ancestry back to ancient European hunter-gatherers, who survived the harsh Ice Age in the southern fringes of Europe 20,000 years ago, expanding into northern Europe as glaciers receded several thousand years later.   They were not replaced or marginalized by the arrival of agriculturalists. This discordance has made the question of the arrival of agriculture and Indo-European languages in Europe one of the most contentious in the fields of archaeology, genetic anthropology, and linguistics.   It remains unresolved, though many scientists now argue for lower levels of genetic diffusion into Europe than originally thought. There are countless other examples in human prehistory of cultural vs. genetic diffusion, with different disciplines often yielding different hypotheses.   The connection between genetic diffusion and cultural diffusion is anything but straightforward, and the best research will take into account not only genetic and linguistic evidence, but evidence from the archaeology, human skeletal remains, and paleobotany.   As noted scientist and author Jared Diamond has put it, &#8220;It is quite a challenge, but a uniquely fascinating one.&#8221;

Genes and Languages: Not So Strange Bedfellows?

<img loading="lazy" decoding="async" class="alignright size-full wp-image-969" title="potassium_channel" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/potassium_channel.jpg" alt="" width="350" height="299" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/08/potassium_channel.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2008/08/potassium_channel-300x256.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />A potassium channel/David S. Goodsell,The Scripps Research Institute
Ion channels are pore-forming proteins that poke through cell membranes to control the movement of ions like calcium, potassium, and chloride in and out of cells. Movement of these ions is critical for a wide-array of physiological processes &#8212; everything from controlling the heartbeat to flexing muscles to firing neurons.
Because ion channels are so essential, mutations in these proteins can lead to serious disease. For example, cystic fibrosis is caused by mutations in a chloride channel protein and certain forms of epilepsy are caused by mutations in sodium channel genes.
Three studies published online yesterday in the journal Nature Genetics show that common variants in ion channel genes may also contribute to disease risk. Two groups found evidence that a potassium channel protein is associated with type 2 diabetes, while another group discovered that a calcium channel and a protein that regulates sodium channels might be associated with bipolar disorder.

<h6>Type 2 Diabetes</h6>
Of all the conditions that have so far been studied with genome wide association study methods, type 2 diabetes has been one of the blockbusters.  Research continues and variants associated with the condition are constantly being found and/or validated.
This week <a href="https://dx.doi.org/10.1038/ng.207" target="_blank" rel="noopener noreferrer">Yasuda et al</a> contribute their finding that a variant associated with an increased risk for developing type 2 diabetes.
This variant is in the gene KCNQ1, which encodes part of a potassium channel that has known roles in cardiac muscle. It is not yet known how this gene could affect the risk for type 2 diabetes, but there is evidence that it is turned on in the pancreas. Yasuda et al found that people with who were homozygous for the variant had evidence of impaired insulin secretion. Another potassium channel gene, KCN11 has previously been associated with type 2 diabetes in several studies.
Genomewide association studies have struggled to find SNPs that are associated with diseases in more than one ethnic group. That’s why it is surprising that the variant was associated with type 2 diabetes not only in the original Japanese set of cases and controls used in this study, but also in Chinese, Korean, and European samples.
<h6>Bipolar Disorder</h6>
Bipolar disorder is a serious mental illness that affects about one to three percent of the world’s population. As with many other common diseases, researchers have been using genomewide association studies in an effort to find SNPs associated with bipolar disorder in order to begin to understand how and why this disease strikes and how best to treat it. So far, however, progress has been slow and there has been little agreement from study to study.
In their quest to tease out the genetics of bipolar disorder, <a href="https://dx.doi.org/10.1038/ng.209" target="_blank" rel="noopener noreferrer">Ferreira et al</a> took an approach that is becoming more popular&#8211;they combined data from several smaller studies to get the larger sample size that is often needed to find variants with modest effect. In total, they looked at 10,596 people of European ancestry — 4,387 people with bipolar disorder and 6,209 controls.
Two variants stood out as candidates for bipolar disorder. Both were in genes related to ion channels.
The first variant in in the gene CACNA1C, which encodes a calcium channel. Previous studies had hinted that this gene might be associated with bipolar disorder. The second variant is in the gene ANK3. This gene encodes a protein that has been shown to regulate sodium channels.
Further evidence for the involvement of these SNPs in bipolar disorder comes from previous studies by these same researchers. In <a href="https://www.ncbi.nlm.nih.gov/pubmed/17622937?ordinalpos=1&#038;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">mice</a> they found that lithium, the most effective drug for treating bipolar disorder, appears to decrease the amount of protein made by the ANK3 and CACNA1C genes.
“Finding statistically robust associations linked to two proteins that may be involved in regulating such ion channels — and that are also thought to be targets of drugs used clinically to treat bipolar disorder — is astonishing,” said Pamela Sklar, a lead author of the study, in a statement.

Variants in Ion Channel Genes are Associated with Type 2 Diabetes and Bipolar Disorder

by Esther Dyson
Last weekend I attended Science Foo Camp, a sort of grown-up summer camp for scientists sponsored by Google (an investor in 23andMe), Nature Magazine and O’Reilly Media.
Aside from the science itself (which is worth many blog posts on its own), one question really grabbed my attention: What motivates people to do science in the first place?<img loading="lazy" decoding="async" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/estherzerog-300x198.jpg" alt="" title="estherzerog" class="size-medium wp-image-929 alignright" width="300" height="198" />
 
In two different sessions, I felt that scientists were ignoring one critical element of the equation – themselves.
<h6>Compelled by Curiosity</h6>
Many scientists say they do what they do out of a thirst for knowledge. Yet in the 23andMe session, I found that many researchers don’t recognize curiosity as a motivating factor when it extends to oneself.
There was a sense that of course scientists are interested in scientific data. But why would “normal people” want to use 23andMe for anything other than health care information? Many scientists at the session seemed to think that if you’re motivated by personal curiosity rather than “serious health concerns,” your curiosity is somehow less legitimate. Ironically, this is at a time when we are all struggling with how to get kids interested in science. Why not appeal to people’s innate curiosity and fascination with themselves?
I’m lucky enough to have about 30 family members plus another 80-odd people in my personal circle of friends. I love combing through the data to see how everyone compares to me and one another. (You’re welcome to add yourself! My user name is edyson, and I will accept an invitation at whatever level you set. NOTE: I will freely disclose your overall similarity to others, and your ancestry painting, but not the health information unless you give permission.)
At SciFoo, I encountered a 23andMe customer who was adopted. “The first time I saw a blood relative was when my first baby was born,” she said. “I wanted to know more about my own kids.” Did she find out anything “serious” or actionable? No, but she satisfied a lot of curiosity … and indeed, she now knows something about health issues her child may face down the road.
<h6>Data = notches on your belt</h6>
In addition to curiosity there’s money, which scientists mostly hate to discuss in public, but which is fairly well understood as a motivator for some scientists — not to mention for all the engineers, applied scientists and others who turn scientific insights into useful technology and products. â€¨â€¨But there’s another motivator that seems to be less understood or acknowledged. I’m not sure of the best word to describe it, but it’s an interest in being part of the effort and being acknowledged for it, sometimes leavened by fascination with one’s own data (either alone or compared with others’).
This came up in a session I attended about data-sharing. The focus was mostly data about insect species, viruses and human medical records, but it could just as easily have been genetic data.
The discussion reflected how science has changed over time. In the past, much of it was about individual discovery and experiments. But increasingly we need lots of data, collected by lots of people, to make progress. Yet scientists, and even more so scientific institutions, often operate in a climate of secrecy — at least until their results are published in a peer-reviewed journal. But what if you need the data before you can produce the results?
In science as in sports, teamwork can mean the difference between victory and defeat. At the Beijing Olympics, one of the big stories is how Michael Phelps swam to victory by following a teammate who let him swim in his wake until the final sprint, when Phelps was able to use the energy he had not expended earlier in the race to win it. That’s a benefit of collaboration.
There’s also the odd but totally understandable fact that Olympians tend to set records in competition, when they’re trying to beat another person. (I know I personally always swim faster when there’s someone about my speed in the next lane.)
Scientists aren’t immune to such effects. Biologist Dan Janzen and medical researcher/doctor Scott Layne both talked about how scientists like to add data to the pot in a way that gets them recognition for their contributions — karma points so to speak. On Flickr, you post photos. In science, you post data … and you can measure your contribution to the general welfare not just in citations, but in page views, reuse, whatever. The tools for doing that are still being developed. Meanwhile, through 23andMe and PatientsLikeMe, a social network for patients with ALS or Parkinson’s, even individuals can play by contributing their own data (medical or genetic) rather than isolating enzymes in a lab or bugs in a hospital. 
Scientists may scoff, but I’m sure the evidence will show that social recognition can do a lot for science.
Esther is a director at 23andMe and investor in numerous private aviation, space and health care ventures, including PatientsLikeMe.

Esther Dyson

A Matter of Motivation

If anybody could turn the history of genetic anthropology into a page-turner, it would be Bryan Sykes. Sykes, Professor of Human Genetics at the University of Oxford, has spent the better of part the last 25 years decoding the mystery of our species’ genetic ancestry through mitochondrial DNA analysis. He recounts his work in his 2001 book, The Seven Daughters of Eve: The Science that Reveals our Genetic Ancestry.
But Sykes doesn&#8217;t simply relate the major discoveries in the field. He goes one step further by breathing life into each of the seven major mitochondrial DNA clusters that are common today in European populations.

The Seven Daughters of Eve can be divided into two major parts. In the first, Sykes discusses some of his most fascinating work. He relives how he and his colleagues extracted ancient DNA from the 5,000-year-old Ã–tzi the Iceman, examines his work on understanding the origins of the Polynesians, and tells how he and his team discovered the true fate of Tsar Nicholas II and the Romanovs. With each story, Sykes easily manages to explain the scientific details behind his conclusions in a way that nearly any reader can comprehend.
23andMe customers will be most interested in Sykes&#8217; explanation of how mitochondrial DNA can be used to trace individuals’ maternal ancestry. Mitochondrial DNA (mtDNA) is a small segment of circular DNA that is found in tiny organelles called mitochondria. It is believed that hundreds of millions of years ago, mitochondria were free-living bacteria who invaded more advanced cells and never left. Now, they are an integral part to every cell. For people like Bryan Sykes, however – not to mention 23andMe customers who are interested in their ancestry – mitochondria are mostly important for what their DNA can tell us.
Because of the way fertilization takes place, mitochondria (and thus mtDNA) are only passed from mother to child, like a kind of &#8220;matrilineal surname.&#8221; In the same way that surnames can change gradually over generations, so too does mtDNA. So while two siblings are almost certain to have identical mtDNA, people whose most recent common maternal ancestor lived thousands of years in the past are likely to bear substantially different mtDNA signatures.
As it turns out, the different mtDNA patterns found in populations around the world can be organized together into a global family tree. At the tips of the tree are present-day human populations from around the world. At the root of the tree is the common mtDNA ancestor of every human alive today, a real woman who lived in Africa about 175,000 years ago.
As with any family tree, some people are more closely related than others. Scientists have given these more closely related clusters, or ‘haplogroups,’ specifically designated letters. There are seven such haplogroups (and thus, seven letters) among people of European descent – U, K, H, V, X, T, and J.
These seven haplogroups form the basis for the second part of Sykes’ book. As a way of making them seem more personal to the reader, he gives them each a name. For example, haplogroup U becomes Ursula, X become Xenia, H becomes Helena, and so on. These are the so-called &#8220;Seven Daughters of Eve.&#8221;
Sykes uses these names to create stories based on where in Europe the descendants of each &#8220;daughter&#8221; are concentrated. In a chapter on haplogroup K (Katrine), he relates the domestication of wolves. The chapter on haplogroup J (Jasmine) is dedicated to the beginnings of agriculture in the Near East more than 10,000 years ago.
Sykes concludes his journey into our species’ genetic past by explaining why he feels it important to understand genetics from a personal standpoint. He writes, &#8220;I like this kind of genetics because it puts the emphasis back where it belongs: on individuals and their actions.&#8221; There are so many stories hidden in our genes, he reasons, and it is best to tell them to the public in this fashion.
This book is not without flaws. The anecdotes about Sykes&#8217; research in the field are, by definition, centered on how he was the major player in each discovery. As a result, many important players in the field are marginalized or left out completely. In addition, the dramatic benefit of assigning each haplogroup its own story comes at the expense of accuracy and completeness. For example, haplogroup J (Jasmine) is not the only one associated with the origin and spread of agriculture form the Near East to Europe; but in The Seven Daughters of Eve, it is the only one mentioned.
However, simplifying and romanticizing genetic anthropology does make for a good story — which was Sykes’ goal in the first place. Indeed, Sykes has discovered many amazing stories in his years of research at Oxford, and The Seven Daughters of Eve proves to be an engaging journey that can be enjoyed by general audiences and genetic ancestry enthusiasts.
The Seven Daughters of Eve: The Science that Reveals our Genetic Ancestry 
Bryan Sykes 
2001 
New York: W.W. Norton &amp; Co.
&nbsp;

The Genetic and Geographic Structure in Europe

In the movie Batman Begins, young Bruce Wayne attends the opera with his parents and becomes increasingly uncomfortable at the costumes that remind him of the bats he had encountered earlier that day.
<div id="attachment_847" style="width: 1157px" class="wp-caption alignnone"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-847" class="wp-image-847 size-full" title="bat2" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/bat2.jpg" alt="" width="1147" height="769" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/08/bat2.jpg 1147w, https://blogcms.23andme.com/wp-content/uploads/2008/08/bat2-300x201.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2008/08/bat2-768x515.jpg 768w, https://blogcms.23andme.com/wp-content/uploads/2008/08/bat2-1024x687.jpg 1024w, https://blogcms.23andme.com/wp-content/uploads/2008/08/bat2-880x590.jpg 880w" sizes="auto, (max-width: 1147px) 100vw, 1147px" />Image from: Don Pfitzer, US Fish and Wildlife Service</div>
German and American scientists have now found that the gene variant rs4680 is associated with regulating such anxious reactions to emotional images.
With more research, study co-author Christian Montag noted in a statement, &#8220;it might be possible to prescribe the right dose of the right drug, relative to genetic makeup, to treat <a href="http://35.88.189.111/articles/new-23andme-report-on-anxiety">anxiety</a> disorders.&#8221;

For the study, which appears online August 10 in the journal <a href="http://www.apa.org/journals/bne/">Behavioral Neuroscience</a>, researchers measured the startle responses – blinking in reaction to unexpected loud noise – of 96 German women as they viewed various images. Each woman was shown happy images such as those of animals or family; threatening or fear-inducing images such as those of injured people or weapons; and emotionally neutral images like a hair dryer or power outlet. A few seconds after each image appeared, researchers randomly startled the women with short, loud blasts of white noise and recorded the their startle responses.
The researchers found when viewing unpleasant pictures, the startle response of women with an A at both copies of rs4680 was about six times stronger compared to those with only one A or none at all.
&#8220;This single gene variation is potentially only one of many factors influencing such a complex trait as anxiety,&#8221; said Montag in a statement. &#8220;Still, to identify the first candidates for genes associated with an anxiety-prone personality is a step in the right direction.&#8221;
The SNP is in the COMT gene, which is involved in regulating the “feel-good” hormone dopamine. It has also been <a href="https://www.ncbi.nlm.nih.gov/pubmed/14612555?ordinalpos=4&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_Result sPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">linked</a> with breast cancer risk – Asian-American women who have an A at one or both copies of rs4680 and also drink black or green tea appear to have a decreased chance of developing the disease. People with an A in both copies of rs4680 have been shown to break down dopamine less efficiently. Studies have also correlated the variant with behaviors such as <a href="https://www.ncbi.nlm.nih.gov/pubmed/17264842) and neuroticism (https://www.ncbi.nlm.nih.gov/pubmed/15956988?ordinalpos=6&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_Result sPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">obsessive-compulsive disorder</a>.
The researchers think the stronger reaction to unpleasant images by people with two copies of the A version of rs4680 might be due to increased dopamine levels in some parts of the brain.
“Elevated dopamine in the prefrontal cortex could result in an inflexible attentional focus on aversive stimuli,” Montag and his colleagues wrote.
That’s a fancy way of saying that people with elevated dopamine in that part of the brain are more prone to respond like a deer in the headlights when faced with a potential threat. In their paper, the research suggest that evolution has created a trade-off. The A version of rs4680 appears to boost working memory and cognitive function compared to G – but it also hampers emotional control. Plus, being unable to take one’s eyes away from something unpleasant could be dangerous, especially if people stop paying attention to their surroundings.
Maybe that’s why Bruce Wayne chose to become a bat; having criminals momentarily distracted at the sight of something scary and terrifying might give him a valuable edge.

Genetic Variant May Increase Risk for Anxiety Disorders

Dogs have served humans as guards, guides, retrievers, shepherds and companions for more than 10,000 years. Now geneticists are enlisting their help in another task – identifying the genetic roots of diseases that affect both man and beast.
Dogs suffer from a number of inherited eye conditions; the progression of their symptoms and gradual vision loss have been found to mirror various similar disorders in humans. One example: cone-rod dystrophies, which rob humans and dogs of their vision by destroying both the cone cells that pick out images and colors in bright light and the rod cells, which work best under low lighting conditions.
Norwegian and Swedish researchers have used a genome-wide approach to identify a genetic mutation in standard wire-haired dachsunds that is responsible for early onset cone-rod dystrophy, known as CRD. Their <a href="https://genome.cshlp.org/cgi/content/abstract/gr.074302.107v1" target="_blank" rel="noopener noreferrer">results</a>, published online today in the journal <a href="https://genome.cshlp.org/" target="_blank" rel="noopener noreferrer">Genome Research</a>, could help researchers studying similar cone-rod disorders in humans to find the genetic basis of those conditions. About one person in 40,000 is <a href="http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1808442" target="_blank" rel="noopener noreferrer">affected</a> by a form of cone-rod dystrophy.
<img loading="lazy" decoding="async" class="alignright size-full wp-image-815" title="lingaasdoggle" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/lingaasdoggle.jpg" alt="" width="400" height="267" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/08/lingaasdoggle.jpg 400w, https://blogcms.23andme.com/wp-content/uploads/2008/08/lingaasdoggle-300x200.jpg 300w" sizes="auto, (max-width: 400px) 100vw, 400px" />
The team used a family of dachshunds, several of whom had CRD. Lingaas and his colleagues used a genome-wide analysis approach on 26 full- and half-siblings, studying nearly 50,000 gene variants much the same way <a href="https://www.23andme.com/" target="_self" rel="noopener noreferrer">23andMe</a> uses an array of gene variants to analyze customer DNA. They studied the dogs in sibling pairs – where one litter mate had CRD and the other had normal vision – to find out what genetic differences might be responsible for the eye condition.

The researchers narrowed their focus to four candidate genes, and ultimately identified a deletion in part of the NPHP4 gene as the cause of the dogs’ blindness.
&#8220;This [NPHP4] gene has been associated with a <a href="https://www.ncbi.nlm.nih.gov/pubmed/17558407?ordinalpos=2&amp;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">combination</a> of kidney and eye disease in human patients,&#8221; said lead researcher Frode Lingaas in a statement. &#8220;Here, we found a mutation that affects only the eyes, suggesting that this gene might be a candidate for human patients with eye disease only.&#8221;
Gene therapy treatments based on other associations have already been tried in dogs with cone-rod dystrophies. Researchers hope such treatments could some day be applied to similar conditions in humans.
“Assuming that NPHP4 has the same function in humans and dogs,” Lingaas and his colleagues added in their paper, “it will now be interesting to search for mutations in NPHP4 in human CRD patients without kidney disease.”
Image from: Frode Lingaas, Norwegian School of Veterinary Science

Learning from Dog Eye Disorders

<img loading="lazy" decoding="async" class="alignnone size-full wp-image-782" title="istock_000006193031xsmall" src="https://blog-api.23andme.com/wp-content/uploads/2008/08/istock_000006193031xsmall.jpg" alt="" width="218" height="327" srcset="https://blogcms.23andme.com/wp-content/uploads/2008/08/istock_000006193031xsmall.jpg 283w, https://blogcms.23andme.com/wp-content/uploads/2008/08/istock_000006193031xsmall-200x300.jpg 200w" sizes="auto, (max-width: 218px) 100vw, 218px" />
Just two weeks before the scheduled start of the Beijing Olympics, a German film crew <a href="http://www.dw-world.de/dw/article/0,2144,3505381,00.html" target="_blank" rel="noopener noreferrer">caught</a> a Chinese doctor on film offering to give athletes stem cell treatments to enhance their performance.
The reporter has since <a href="http://www.msnbc.msn.com/id/25886378/" target="_blank" rel="noopener noreferrer">refused</a> to identify the doctor on the tape and China has vehemently <a href="http://www.chinadaily.com.cn/olympics/2008-07/24/content_6874846.htm" target="_blank" rel="noopener noreferrer">denied</a> the documentary’s claims about the availability of so-called “gene doping” in this year’s Olympics host country. Still, the specter of a new kind of cheating hovers over the Games.
For years it’s been known that some athletes have resorted to using performance-enhancing drugs to live up to the Olympic motto of “faster, higher, stronger.” But the possibility of a new, undetectable kind of cheating made possible by advances in gene therapy has the World Anti-Doping Agency (WADA) worried.
Take for example the case of Italian cyclist Riccardo Ricci, who was recently thrown out of the Tour de France after tests showed he’d injected the hormone erythropoietin (also known as EPO) to get more oxygen into his bloodstream. In a world where gene doping is a reality, Ricci could have gotten away with enhancing his oxygen capacity by inserting the EPO-producing gene into his genome, gifting him with what would have appeared to doping tests to be a natural advantage.
WADA is <a href="http://www.wada-ama.org/en/dynamic.ch2?pageCategory.id=347" target="_blank" rel="noopener noreferrer">taking steps</a> to counter potential gene doping cheaters at the <a href="http://www.popsci.com/scitech/gallery/2008-07/juicing-30" target="_blank" rel="noopener noreferrer">2012 Olympics</a> by funding researchers around the world to develop tests that could determine if athletes are using gene therapy techniques to improve their performance.

For example, researchers in Canada are working on a test that checks changes in gene activity to find out if athletes have tinkered with their genome, inserting the EPO-producing gene to increase their bodies’ oxygen production. They hope to be able to have a sample test ready by next year.
French and American researchers are also working on a test to determine if athletes have doped their DNA. Their test is expected to compare the number of copies of a specific gene in an athlete suspected of gene doping against the number of copies of the same gene in the average person. A preliminary survey on the practicality of their idea is due this year.
Even as they work on countering gene doping, scientists and sports officials alike are finding that genetics may already have an impact on current drug doping tests.
In the July issue of the Journal of Clinical Endocrinology &amp; Metabolism, Swedish researchers identified a variation of the UGT2B17 gene found in two-thirds of Asians and 10 percent of Caucasians that caused a <a href="https://www.ncbi.nlm.nih.gov/pubmed/18334593?ordinalpos=1&#038;itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum" target="_blank" rel="noopener noreferrer">negative result</a> on the standard testosterone doping test, even if the men tested were actually taking the steroid.<a id="_anchor_1" class="msocomanchor" onmouseover="msoCommentShow('_anchor_1','_com_1')" onmouseout="msoCommentHide('_com_1')" name="_msoanchor_1" href="#_msocom_1"></a>
This latest finding suggests that even if athletes don’t resort to gene doping, they may have genes that allow them to dope with drugs and not get caught.
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