Image copyright Emery Smith Image caption The genome study uncovers possible reasons for the skeleton's unusual features

Tests on a six-inch-long mummified skeleton from Chile confirm that it represents the remains of a newborn with multiple mutations in key genes.

Despite being the size of a foetus, initial tests had suggested the bones were of a child aged six to eight.

These highly unusual features prompted wild speculation about its origin.

Now, DNA testing indicates that the estimated age of the bones and other anomalies may have been a result of the genetic mutations.

Details of the work have been published in the journal Genome Research.

In addition to its exceptionally small height, the skeleton had several unusual physical features, such as fewer than expected ribs and a cone-shaped head.

The remains were initially discovered in a pouch in the abandoned nitrate mining town of La Noria. From there, they found their way into a private collection in Spain.

Some wondered whether the remains, dubbed Ata after the Atacama region where they were discovered, could in fact be the remains of a non-human primate. A documentary, called Sirius, even suggested it could be evidence of alien visitations.

Genetic investigation

The new research puts those ideas to rest.

A scientific team analysed the individual's genome - the genetic blueprint for a human, contained in the nucleus of cells.

They had already used this to confirm that the individual was human. Now, the team has presented evidence that Ata was a female newborn with multiple mutations in genes associated with dwarfism, scoliosis and abnormalities in the muscles and skeleton.

"What was striking and caused us to speculate early on that there was something strange about the bones was the apparent maturity of the bones (density and shape)," said Garry Nolan, a professor of microbiology and immunology at the Stanford University School of Medicine in California.

He told BBC News: "There was proportionate maturation of the bones, making the body look more mature despite the fact that the specimen was itself small. This discrepancy drove much of the research. So, we believe that one or more of the mutated genes was responsible for this."

The results revealed four new single nucleotide variants (SNVs) - a type of genetic mutation - in genes that were known to cause bone diseases, like scoliosis or dislocations, as well as two more SNVs in genes involved in producing collagen.

Ata also had 10 pairs of ribs, rather than 12 - a feature that has never been seen in humans before.

"We actually believe the girl was stillborn or died immediately after birth," said Prof Nolan.

"She was so badly malformed as to be unable to feed. In her condition, she would have ended up in the neonatal ICU."

However, access to advanced medical care was probably unavailable in the remote Chilean region where she was found. The skeleton's intact condition suggests it may be no more than 40 years old.

Future benefit

Prof Nolan began the scientific investigation of Ata in 2012, when a friend called saying he might have found an "alien".

He explained: "While this started as a story about aliens, and went international - it's really a story of a human tragedy. A woman had a malformed baby, it was preserved in a manner and then "hocked", or sold."

The scientists said that future studies of Ata had the potential to improve our understanding of the underlying basis of genetic skeletal disorders - with the potential to help others.

"Analysing a puzzling sample like the Ata genome can teach us how to handle current medical samples, which may be driven by multiple mutations," said Atul Butte, director of the Institute for Computational Health Sciences at the University of California, San Francisco.

"When we study the genomes of patients with unusual syndromes, there may be more than one gene or pathway involved genetically, which is not always considered."

Prof Nolan says further research into Ata's precocious bone aging could one day benefit patients. "Maybe there's a way to accelerate bone growth in people who need it, people who have bad breaks," he said. "Nothing like this had been seen before. Certainly, nobody had looked into the genetics of it."

He added: "I think it should be returned to the country of origin and buried according to the customs of the local people."

Follow Paul on Twitter.</s>The mummified skeleton has been called “Ata,” and, starting roughly four years ago, researchers from Stanford University and the University of California, San Francisco isolated and purified its DNA from marrow inside its tiny, preserved bones. Then they put a new generation of genetic sequencing technology to work.

Not surprisingly, it has also narrowed her ancestry to a mix of peoples typical of those who settled the remote corner of Chile in which her remains were lovingly tucked into a pouch. Her genes suggest her ancestry was largely European and, to a lesser extent, East Asian.

Now, genetic science has given these mummified remains a species (Homo sapiens), a gender (female), an age (she probably died shortly after birth) and as many as 52 genetic clues to her extreme physical abnormalities (her bones appear to have aged at an accelerated pace).

It had 10 pairs of ribs — two fewer than the normal human complement — and an elongated skull with a pronounced point. Despite its diminutive size, the proportion of its limbs and torso suggested this was a human. Was this a stillborn baby? A non-human primate of some sort? An alien being?

In the 14 years since it was found in an abandoned mining town in Chile’s Atacama Desert, the bizarre 15-cm skeleton has inspired fervid speculation, including theories of unearthly origins.

But among the welter of mutations they found were a half-dozen or more abnormalities in genes known to be associated with conditions such as dwarfism, scoliosis and musculoskeletal abnormalities. During fetal development, and possibly in the few days of life she probably survived, those appear to have caused her bones to fuse and age at an unusual pace.

Still other mutations may have arisen spontaneously — a mystery that, in the absence of Ata’s parents’ genes, will probably endure.

Some of the genetic mutations they found have not been recorded before — not so surprising in a field in which the function of most genes, and of whole genetic regions, remains a mystery. Some mutations were probably carried and bequeathed by one parent only. Others appear to have been contributed by both.

By the time she succumbed, probably to breathing or feeding difficulties or complications of a likely premature birth, the infant’s bones and the ways in which they had fused gave her the skeletal structure of a child between 6 and 8 years old.

The number of mutations affecting bone structure and growth was “well beyond what you’d expect by chance,” said Stanford researcher Garry Nolan, the first academic researcher to be called in on the Ata case.

The authors of the study, published Thursday in the journal Genome Research, speculated that the nitrate mining that had drawn settlers to the region in which Ata was found may have exposed her pregnant mother to some environmental toxin that contributed to the genetic wreckage.

But it may as easily have been a chance event.

When it came to genetic mutations affecting the structure and growth of bones, said Nolan, the child won a sort of grim lottery, “which unfortunately was a death sentence.”

“It’s rare — very, very rare” to find so many mutations related to the same systems in a single person, he said. “But if you roll the dice enough times, you’re going to come up snake eyes. And that’s what happened with this unfortunate child.”

Nolan was first asked by a documentary filmmaker to consult on the case of Ata’s remains, which had made their way into a private collection in Barcelona, Spain. The producers of the film, titled Sirius, suggested it was evidence of alien life on Earth.

“This ended up on our doorstop like a basket,” said Nolan, who directs the National Heart, Lung, and Blood Institute’s Proteomics Center for Systems Immunology at Stanford. “It first was a curiosity. Then, it became a learning opportunity, a chance to ask questions without presupposing an answer.”

The remains of a child like Ata do arouse intense curiosity, but they also teach scientists some valuable lessons about genetics, says Dr. Atul Butte, who conducted the genetic sequencing and co-authored the new study.

“Kids come in all the time now with unusual syndromes, and we use genetic analysis to help explain what we’re seeing,” said Butte, a professor of medicine and expert in pediatric genetic diseases at UC San Francisco. “Most of the time we’re looking for one gene that’s gone wrong.”

What geneticists are learning, Butte said, “is that you shouldn’t stop at one. There might be many mutations” that contribute to an observed abnormality. It happens, as Ata’s case demonstrates.

“We tend to love Occam’s razor,” the philosophical principle that challenges scientists to look for the simplest solution to a problem, Butte said. “But maybe there’s more than one thing wrong.”

Nolan, a professor of microbiology and immunology at Stanford, sees other lessons emerging from Ata’s tiny remains. By offering evidence for the combined effects of recognized genetic mutations, the study of Ata might guide medical scientists in devising ways to grow bone more quickly. Or it may prompt geneticists to devise a prenatal test that could diagnose some or all of Ata’s abnormalities at the fetal stage, he said.

Nolan said it certainly gives scientists an instructive case study in one of genetic science’s thorniest problems: how to align what they find in the genes with the traits they see in the person (in scientific parlance, how to link genotype with phenotype).

Butte is deeply cautious about scientists’ ability to do that anytime soon.

In his day job, he has seen a single genetic mutation in children with grievous abnormalities, and mutations in “entire chunks of DNA” in children with few, if any, negative effects.

“I still don’t think we understand how unusual ‘normal’ humans can be,” Butte said. “There still could be very many differences in humans than we understand. If it’s not humbling it should be humbling. We’re not even close to that yet.”</s>Ata’s features attracted UFO hunters and extraterrestrial investigators, who suspected her bones might represent something remarkable.

The Atacama skeleton, or Ata, named after the Chilean desert where the remains were found, has 10 pairs of ribs. The average person has 12. Ata’s skull narrows to a ridged peak. Her bones are as calcified as those of a child between 6 and 8. Yet her skeleton’s apparent age is at odds with her size. If Ata ever stood, she stood 6 inches high, barely tall enough to peek over a spring crocus.

Her features attracted UFO hunters and extraterrestrial investigators, who suspected her bones might represent something remarkable. Ata is indeed remarkable. And she is human, according to the story told by her genes that was published Thursday in the journal Genome Research.

“We were able to look at all the mutations that were in this individual,” said Stanford University geneticist Garry Nolan, an author of the new report. “And everybody is born with mutations. This person just happened to roll snake eyes.”

In 2013, Nolan revealed what he called a draft of her genome, which, though it had gaps, confirmed that Ata had human DNA. The new work presents her whole genome, including her unusual mutations.

Ata’s story started in northern Chile’s Atacama Desert, one of the world’s driest regions. In this desert, near a church in an abandoned village, a man reportedly found Ata’s remains in 2003. The collector who now owns the skeleton purchased Ata from an archaeological black market, Nolan said. Ata’s skeleton is kept in a secure location in Spain, according to Steven Greer, a retired emergency-room physician who advocates for government disclosure of UFO sightings.

Greer first met Ata’s owner at a Spanish ufology conference in 2009. (People who study UFOs use the term ufology to make their pursuits sound scientific.) The collector, after some persuading, allowed Greer to extract a small pip of bone marrow from one of her ribs. When Greer held Ata, he marveled at her size: She is so small her skeleton fit in the palm of his hand, he said. In 2013, Greer co-produced a documentary, “Sirius,” which unveiled Nolan’s initial genetic research.

Nolan was not alone in his investigation. The Stanford scientist enlisted experts from a variety of fields, including specialists who study ancient DNA. Ata, though desiccated by the super-dry Atacama, is no ancient mummy. Over centuries, DNA breaks into fragments. But the genetic material in her body is too complete to be older than a few decades, he said.

Nolan tapped Ralph Lachman, a pediatric radiologist at Stanford’s Lucile Packard Children’s Hospital, to analyze the skeleton’s X-rays. The physician, Nolan said, is the “world’s expert in bone disorders.” Based on features such as growth around the bones’ knuckles, the skeleton appears to be as developed as that of a 6-year-old’s. But, to be clear, Lachman never argued Ata died in the midst of childhood, Nolan said. “He said the bones make it look like it’s 6 years old,” Nolan said.

Comparing Ata’s genome to the genomes of a chimpanzee and monkey ruled out a nonhuman origin. Her ancestors were South American, and most possibly Chilean. The scientists found no suggestion of a Y chromosome in her genetic package, confirming that she was female.

The new study uses a giant database of what Nolan called “phenotype-genetic correlations.” An individual’s phenotype is the collection of his or her characteristics, including height, eye color and earwax wetness. Genes, as well as the environment, influence a phenotype. Of her billions of nucleotides, which are the single bricks that make up her genes, the authors identified 3 million variations.

This massive database is similar in concept to a social network mined by a research firm, Nolan said. If Cambridge Analytica collects enough of your likes and dislikes, it can predict your political preferences. Likewise, with enough genes, researchers can predict which individuals will have similar phenotypes. In many cases, Ata’s genes matched individuals with bone disorders. She did not have an unusual number of mutations, Nolan said. What was exceptional was where they were concentrated.

“This is a super rare human phenotype,” said co-author Sanchita Bhattacharya, a bioinformatics researcher at the University of California, San Francisco. Ata is one of the rarest “we have ever observed, being only 6 inches and having this advanced bone age.”

USCF biomedicine professor Atul Butte, who created the database, said Ata had 64 unusual mutations linked to the skeletal system. Among these, the scientists found two variants new to the scientific literature that code for an abundant structural protein called collagen, as important to our bones as steel to a skyscraper.

All told, the story in her genes is tragic. “Given multiple mutations identified in this specimen, one could speculate it didn’t survive long,” Bhattacharya said, even if she was born alive.

Given her origin, one could imagine a distraught mother bringing her infant to a priest, Nolan said. “It was found, supposedly, in a house next to a church, which to me says rectory,” he said. The body was positioned as if lying in state, arms to the side. “And then time goes by,” he speculated, “and it gets forgotten or the priest dies.”

Nolan said he does not blame the owner for wanting to study Ata. After all, it took a team of 10 scientists five years to figure out what she is. Nor did he regret his study, and his investment of what he estimated to be $50,000 in funds and a quarter-million dollars’ worth of time.

“Now we know that there’s something about this particular set of genes that leads to rapid bone growth,” he said. He envisioned using this knowledge to influence stem cells and cartilage, healing bones quicker, and correctly. “To me, that’s the beauty of basic science,” he said.

But, Nolan said, he hopes Ata’s story ends in the place where it started: “Maybe this thing needs to be returned to Chile. Maybe it needs to be given the burial it deserves.”</s>The origins of a 6-inch skeleton that was once thought to be the remains of an alien have been uncovered by scientists.

A new DNA study of the bones shows the remains are in fact human and belonged to a young girl aged around six to eight years old who had dwarfism.

Nicknamed 'Ata', the incredible find made in 2003 in Atacama, Chile, has a long cone like skull and just ten ribs.

Found in a leather pouch in an abandoned church, the skeleton was nicknamed 'Ata'.

The skeleton found its way to a collector in Spain who speculated that it was an extra-terrestrial – judging from its bizarre appeareance – and it appeared in a documentary, Sirus, which suggested it was evidence of alien life.

After five years of deep genomic analysis scientists have pinpointed the mutations responsible for the anomalous specimen.

Genetic tests at the University of California, San Francisco and Stanford University have proven beyond contention that the bones were that of a human female that died 40 years ago.

The researchers found mutations in not one but several genes known to govern bone development, some of which have never been described before.

DNA analysis reveals that her appearance can be explained by a series of genetic mutations that are linked to dwarfism and other bone and growth disorders.

The girl appears to have been aged between six and eight years old when she died.

It is not known whether the skeleton reached eight years – or whether Ata had a genetic mutation that made her bones grow in an accelerated way in the womb.

The skeleton is most likely from a premature baby, or from one soon after birth.

Sanchita Bhattacharya, a researcher at UCSF said she found 64 gene variants in 'Ata's DNA that seemed likely to be damaging.

She found that, incredibly, 10 of the variations were linked to do with skeletal problems including 'short stature' and '11 pairs of ribs'.

Other gene variations include problems with producing collagen – used in cartilage – and genes linked to scoliosis – curvature of the spine.

Garry Nolan, a professor of microbiology and immunology at the Stanford University School of Medicine began the scientific exploration of Ata in 2012, when a friend called saying he might have found an 'alien.'

Dr Nolan said that research on Ata may one day benefit patients.

He said: 'Maybe there's a way to accelerate bone growth in people who need it, people who have bad breaks,' he said.

'Nothing like this had been seen before. Certainly, nobody had looked into the genetics of it.'

Now Dr Nolan said he hopes that Ata will be given a proper burial.

He said her genes are similar to those of Chilean Chilote Indians, and that the remains suggest she lived no more than 40 years ago.

He said that hopes little Ata will be given a proper burial. 'We now know that it's a child, and probably either a pre- or post-term birth and death.

'I think it should be returned to the country of origin and buried according to the customs of the local people.'

The researchers speculate that the skeleton's deformities and the fact it was found near an abandoned nitrate mine in Chile, may have resulted from DNA damage caused by exposure to nitrates. The skeleton is owned by a Spanish businessman based in Barcelona.</s>Fifteen years after the 'alien' skeleton was found, new DNA testing has provided a more definitive identification.

A six-inch-long mummified “alien” skeleton has finally been identified, thanks to new DNA testing. The tiny skeleton, that’s been nicknamed “Ata,” since it was found in the Atacama Desert in Chile, was previously partially identified through DNA testing in 2013. However, what was once thought to be extraterrestrial in nature, or even an alien-human hybrid, has been more-definitively identified, and a new DNA analysis explains why the specimen looks so mutated, according to Gizmodo on Thursday.

Although the Atacama Desert alien skeleton has an almost ancient appearance, the Gizmodo article shares that Ata is really only about 40 years ago and was discovered 15 years ago “in a deserted Chilean town.” A recent study of the alien skeleton that’s published on Genome Research says that, due to its odd features, speculation once swirled that the humanoid might have actually been extraterrestrial or a “preserved nonhuman primate.” A previous DNA analysis that was done in 2013 actually did confirm that the alien skeleton was nearly 100 percent human.

The Inquisitr previously reported that Ata was not exactly evidence of alien life, but was, rather, identified five years ago as a human child, probably male, that died between the ages of “six to eight years old.” Questions still remained, though, about what would cause a child of that age to measure so small, at a height of only six inches. Also, the alien-looking skeleton had other odd physical features, such as long limbs, slanted and sunken-in eye sockets, an elongated and pointed skull, underdeveloped jaw, and only 10 ribs, rather than 12.

According to Newsweek, the Atacama Desert alien skeleton mystery has now been solved through the recent DNA testing done at the University of California. Scientists have now discovered, through DNA that was taken from the alien skeleton’s bone marrow, that several different rare and fatal genetic mutations caused the tiny human skeleton to look alien in nature. The results of the new DNA analysis confirm that Ata was not a male child, but, rather, a Chilean female fetus at the time of her death.

The study goes on to say that the fetus had the bone growth of a six-year-old due to a “rare bone-aging disorder,” according to the previously-mentioned article on Gizmodo. Also, the scientists concluded that the Atacama Desert alien skeleton suffered from dwarfism, along with seven other gene mutations. The team of researchers also don’t know exactly what caused all of Ata’s gene mutations but did comment that it was “quite surprising how many mutations” the alien skeleton has.

Newsweek says that the Atacama Desert alien skeleton was found in 2003 “in a bag on a shelf in a house next to a church in a small, abandoned nitrate mining town” in Chile.</s>When the mummified remains of a six-inch humanoid were found in an abandoned mining town in Chile’s Atacama desert 15 years ago, speculation on its origins ran wild. The skeleton, which was sold to a private collector in Spain, was so bizarre it appeared in a documentary as potential evidence for alien life.

Now scientists in California have extracted DNA from the mummy’s bones and pieced together the real and tragic story of the individual, known as Ata. Rather than a visitor from another world, Ata was a girl who appears to have been stillborn, or to have died immediately after birth, with devastating mutations that shaped her extraordinary body.

Ata’s remains were found in 2003 in La Noria, an old nitrate-mining town, reportedly wrapped in white cloth tied with a violet ribbon. The skeleton was remarkable in many ways. While only six inches tall, the bones had some features of a child aged six to eight. Instead of the usual 12 pairs of ribs found on humans, Ata had only 10 pairs. The head was an elongated cone shape.

The curious remains caught the eye of Garry Nolan, a professor of microbiology and immunology at Stanford University in California, who offered to study the specimen. In 2013, he concluded that Ata was human, but the reasons for the dramatic deformities were far from clear.

Nolan and his colleagues at the University of California in San Francisco have now published their analysis of Ata’s full genetic makeup. From DNA extracted from the bones, they found that Ata was a girl who carried mutations in at least seven genes that are known to cause major skeletal malformations or accelerate their development. Taken together they explain Ata’s size, abnormal ribs and skull shape, and the apparently advanced age of her bones. Beyond her skeletal malformations, Ata may have had a condition called congenital diaphragmatic hernia, a relatively common life-threatening birth defect in which the diaphragm does not develop properly. Further analysis found that Ata’s DNA most closely resembled that of other Chileans.

The discovery of mutations that may have aged Ata’s bones could in future help patients with skeletal problems, Nolan said. “Understanding the process might allow us to develop therapies or drugs that drive bone development for people in, say, catastrophic car crashes,” he said. Details of the work are published in Genome Research.

Nolan believes that Ata was stillborn or died immediately after her birth, perhaps 40 years before her remains were discovered. “She was so badly malformed as to be unable to feed. In her condition, she would have ended up in the neonatal ICU, but given where the specimen was found, such things were simply not available,” he said.

“While this started as a story about aliens, and went international, it’s really a story of a human tragedy. A woman had a malformed baby, it was preserved in a manner and then ‘hocked’ or sold as a strange artefact. It turns out to be human, with a fascinating genetic story from which we might learn something important to help others. May she rest in peace.”</s>A mysterious humanoid skeleton discovered more than a decade ago in the Atacama Desert of Chile belonged to an infant human female, scientists say.

Nicknamed Ata, the six-inch long skeleton featured an elongated skull and 10 pairs of ribs instead of the usual 12, with the unusual features attracting the interest of alien and UFO enthusiasts.

However, genetic tests of the specimen conducted by scientists in California revealed beyond doubt that the skeleton belonged to a female newborn human, with its bizarre physical features the result of mutations in several genes known to govern bone development.

Dr Garry Nolan, professor of microbiology and immunology at Stanford University, discovered that although the girl appeared to have been stillborn – or to have died immediately after birth – her bone composition was that of a five- to eight-year-old, suggesting that she had a rare, bone-aging disorder.

"I had heard about this specimen through a friend of mine, and I managed to get a picture of it," Nolan said.

"You can't look at this specimen and not think it's interesting; it's quite dramatic. So I told my friend, 'Look, whatever it is, if it's got DNA, I can do the analysis.'"

Genetic analysis of the specimen, which is estimated to be around 40 years old, revealed that Ata had several mutations in at least seven genes that control bone development.

The skeleton's features were consistent with a condition known as dwarfism, which involves various bone deformities and facial malformations.

Scientists were unable to match up two percent of Ata's DNA with human DNA, although this was due to the sample being degraded and not extraterrestrial biology.

"For me, what really came of this study was the idea that we shouldn't stop investigating when we find one gene that might explain a symptom," Nolan said.

"It could be multiple things going wrong, and it's worth getting a full explanation, especially as we head closer and closer to gene therapy.

"We could presumably one day fix some of these disorders, and we're going to want to make sure that if there's one mutation, we know that – but if there's more than one, we know that too."

Nolan's findings have been published in the journal Genome Research.</s>Those are the only words Ralph Lachman, co-director of the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center in Los Angeles, California, had to say about his analysis of an anomalous skeleton rumored to be of alien origin. Almost two decades ago, an urban explorer combing through an abandoned nitrate mining town in Atacama Desert of northern Chile discovered a strange bag sitting on a shelf in a long-deserted church. Inside was a gruesome find: a tiny human-like skeleton with giant eye sockets and an elongated, pointed skull. The skeleton also only has ten ribs as opposed to the usual twelve found in humans, fueling speculation that it might be the remains of an otherworldly being.

The alien-like skeleton eventually made its way into the hands of a private collector in Barcelona and enjoyed relative obscurity until being featured in a 2013 documentary. That film drew the attention of immunologist Garry Nolan of Stanford University in California, who was able to obtain permission to perform genetic testing on the skeleton to determine if was of Earthly or, as it was rumored, extraterrestrial origin. So what’s the verdict?

Unfortunately for those of us who want to believe, it turns out the Atacama skeleton is simply an unfortunate example of how there are both winners and losers in the gene pool lottery. Nolan says his analysis reveals the Atacama skeleton’s DNA is “modern, abundant, and high quality,” meaning it’s a human being only just a few decades old. Nolan concludes that the skeleton is either a six-to-eight year-old child who suffered from a host of rare and deformative genetic disorders, or the skeleton of a fetal child with an advanced aging disorder. Other scientists believe the specimen is simply a fetus which has become deformed due to desiccation and improper storage.

“I’m thrilled with the outcome,” Nolan says, “You just couldn’t fake it, unless you were an alien.” Well, I guess that is a possibility, although what would be the gain in that? If we fake alien bodies ourselves all the time, what would aliens have to gain by sending us a fake?</s>(CN) – A 6-inch mummified humanoid skeleton found in Chile in 2003 and determined to have died at age 6 to 8 has provoked speculation as to its origin. After whole genome sequencing of the skeleton, researchers offer insights into its ancestry and unusual physical characteristics.

The findings, published Thursday in the journal Genome Research, reveal that the specimen’s miniature stature and multiple skeletal irregularities – including its cone-shaped skull – could stem from a relatively short list of mutations in genes associated with diseases like scoliosis, dwarfism and musculoskeletal abnormalities.

“This was an unusual specimen with some fairly extraordinary claims put forward,” said senior author Garry Nolan, a professor of microbiology and immunology at Stanford University. “It would be an example of how to use modern science to answer the question, ‘What is it?’”

The team used DNA extracted from the specimen’s bone marrow to conduct a whole-genome sequence analysis.

Sequencing reads matched human and non-human primate reference genomes, including rhesus macaque and chimpanzee, which showed that the specimen, known as Ata, was of human origin. Ata’s Chilean ancestry was determined by comparing single-nucleotide polymorphisms against a database of known SNPs from a diverse range of geographical populations. The sequence read also revealed that the specimen was female.

The researchers then searched for genetic clues that could explain Ata’s exceptionally small stature, abnormal rib count, premature bone age and bone and skull abnormalities. This revealed the specimen’s “dramatic phenotype could in fact be explained with a relatively short list of mutations in genes known previously to be associated with bone development,” according to Nolan.

Future research using deeper sequencing and analyses of the novel sequence variations discovered in Ata may enhance our understanding of the functional basis of genetic skeletal disorders.

“This is a great example of how studying ancient samples can teach us how to analyze modern-day medical samples,” said co-author Atul Butte, director of the Institute for Computational Health Sciences at the University of California, San Francisco (UCSF).

The research was funded by Stanford, Stanford’s School of Medicine, UCSF, the National Autonomous University of Mexico, Roche Sequencing Solutions, and Ultra Intelligence Corporation.

Researchers believe Ata died about 40 years ago. Nolan told National Geographic that while no one knows anything about her parents, someone cared for her when she died: she was carefully laid out and wrapped in a leather pouch.</s>DNA is the master regulator that tells your cells which proteins to make. A new developed by a research team at the University of Delaware can program strands of DNA into switches that turn proteins on and off.

‘New technology can program strands of DNA into switches that turn protein synthesis on and off.’

UD's Wilfred Chen Group describes their results in a paper published in the journal. This technology could lead to the development of new cancer therapies and other drugs.This project taps into an emerging field known as DNA computing. Data we commonly send and receive in everyday life, such as text messages and photos, utilize binary code, which has two components--ones and zeroes. DNA is essentially a code with four components, the nucleotides guanine, adenine, cytosine, and thymine. In cells, the arrangement of these four nucleotides determines the output--the proteins made by the DNA. Here, scientists have repurposed the DNA code to design logic-gated DNA circuits."Once we had designed the system, we had to first go into the lab and attach these DNA strands to various proteins we wanted to be able to control," said study author Rebecca P. Chen, a doctoral student in chemical and biomolecular engineering (no relation to Wilfred Chen). The custom sequence designed DNA strands were ordered from a manufacturer while the proteins were made and purified in the lab. Next, the protein was attached to the DNA to make protein-DNA conjugates.The group then tested the DNA circuits on E. coli bacteria and human cells. The target proteins organized, assembled, and disassembled in accordance with their design."Previous work has shown how powerful DNA nanotechnology might possibly be, and we know how powerful proteins are within cells," said Rebecca P. Chen. "We managed to link those two together."The team also demonstrated that their DNA-logic devices could activate a non-toxic cancer prodrug, 5-fluorocytosine, into its toxic chemotherapeutic form, 5-fluorouracil. Cancer prodrugs are inactive until they are metabolized into their therapeutic form. In this case, the scientists designed DNA circuits that controlled the activity of a protein that was responsible for conversion of the prodrug into its active form. The DNA circuit and protein activity was turned "on" by specific RNA/DNA sequence inputs, while in the absence of said inputs the system stayed "off."To do this, the scientists based their sequence inputs on microRNA, small RNA molecules that regulate cellular gene expression. MicroRNA in cancer cells contains anomalies that would not be found in healthy cells. For example, certain microRNA are present in cancer cells but absent in healthy cells. The group calculated how nucleotides should be arranged to activate the cancer prodrug in the presence of cancer microRNA, but stay inactive and non-toxic in a non-cancerous environment where the microRNA are missing. When the cancer microRNAs were present and able to turn the DNA circuit on, cells were unable to grow. When the circuit was turned off, cells grew normally.This technology could have wide applications not only to other diseases besides cancer, but also beyond the biomedical field. For example, the research team demonstrated that their technology could be applied to the production of biofuels, by utilizing their technology to guide an enzymatic cascade, a series of chemical reactions, to break down a plant fiber.Using the newly developed technology, researchers could target any DNA sequence of their choosing and attach and control any protein they want. Someday, researchers could "plug and play" programmed DNA into a variety of cells to address a variety of diseases, said study author Wilfred Chen, Gore Professor of Chemical Engineering."This is based on a very simple concept, a logical combination, but we are the first to make it work," he said. "It can address a wide scope of problems, and that makes it very intriguing."Source: Eurekalert
DNA tests confirm Ata, an unusual six-inch-long mummy found in Chile in 2003, to be the remains of a newborn human with genetic mutations.