A Pap smear can scoop up fetal cells for genome testing

Scanning a fetus’s genome just a few weeks after conception may soon be an option for expecting parents. Mom just needs to get a Pap smear first.

By scraping a woman’s cervix as early as five weeks into a pregnancy, researchers can collect enough fetal cells to test for abnormalities linked to more than 6,000 genetic disorders, researchers report November 2 in Science Translational Medicine. It’s not clear exactly how fetal cells make their way down to the cervix, says study coauthor Sascha Drewlo of Wayne State University School of Medicine in Detroit. But the cells may invade mom’s mucus-secreting glands, and then get washed into the cervical canal.

Current prenatal tests include amniocentesis and chorionic villus sampling, but they work later in pregnancy: at least 12 weeks for amnio and at least nine weeks for CVS. Amnio requires a long needle threaded through a pregnant woman’s belly and uterus; CVS often does, too. Instead, Drewlo’s team gathered fetal trophoblast cells, which give rise to the placenta, and were able to examine the genomes of 20 fetuses.

The new technique, which can work with as few as 125 fetal cells, could one day help physicians care for their tiniest patients. For some genetic conditions, such as congenital adrenal hyperplasia, early detection means mom can take some medicine to “actually treat the fetus in utero,” Drewlo says.

Readers ponder hominid hookups and more

Nuts about Neandertals
Recent genetic analyses of populations around the world showed that a wave of ancient humans left Africa about 50,000 to 72,000 years ago. All non-Africans alive today originated from this single wave, Tina Hesman Saey reported in “One Africa exodus populated globe” (SN: 10/15/16, p. 6).

“If the Neandertals were already present when Homo sapiens arrived on the scene, from whence did the N­eandertals originate, and how did they get there ahead of the (true) humans?” Peter Goodwin asked.
“Neandertals didn’t race ahead of humans out of Africa,” Saey says. Some earlier ancestor of both modern humans and Neandertals migrated out of the continent long before either species came on the scene. “Neandertals evolved outside of Africa, possibly from Homo heidelbergensis. They ‘grew up’ in Europe and Southwest Asia and were already present when humans started to venture out of Africa” she says.

But once human ancestors ventured into new territories, they met up and mated with Neandertals and other hominids, Bruce Bower says. Scientists are studying physical changes in the bodies of various animal hybrids to understand signs of this ancient interbreeding, Bower reported in “The hybrid factor” (SN: 10/15/16, p. 22).

Online reader Mark S. wondered if hybridization could explain the similarities between even older hominids like Homo naledi and Australopithecus, which have collarbones and finger bones in common (SN: 5/14/16, p. 12).

Biological anthropologist Rebecca Ackermann of the University of Cape Town in South Africa suspects hybridization helped shape the a­natomy of H. naledi and other ancient hominid species, Bower says. But no DNA has been extracted from H. naledi fossils to explore that possibility. DNA from Spanish fo­ssils does suggest that Neandertals and Denisovans may have interbred more than 430,000 years ago (SN Online: 3/14/16).
Quantum leap through time
Researchers teleported quantum particles over long distances in Canada and China. The feats could lay the groundwork for a quantum internet, Emily Conover reported in “New steps toward quantum internet” (SN: 10/15/16, p. 13).

“Is there any chance that quantum communication could send messages to the past or future … information time travel?” online reader J Ferris asked.

“Unfortunately, quantum mechanics does not allow faster-than-light c­ommunication — although it seems like it could at first blush,” Conover says. Through entanglement, quantum particles appear to remotely affect one another instantaneously. But to transmit or receive actual information, other details about the me­asurement must be sent through normal light-speed channels. “That’s a good thing,” she says. “If faster-than-light communication were possible, communication back in time would be too, which would cause all kinds of weird paradoxes. You could talk to your parents before you were born and perhaps convince them not to have children.”

Failure to launch
A star that vanished in 2009 may be the first confirmed case of a failed supernova. A faint infrared light and a black hole are all that remain of NGC 6946, Christopher Crockett reported in “Lost star may be failed supernova” (SN: 10/15/16, p. 8).

Jan Steinman wondered if the star’s collapse released enough gravitational energy for scientists to detect it using the Advanced Laser Interferometer Gravitational-Wave Observatory, or LIGO, which confirmed the existence of gravitational waves earlier this year.

Failed supernovas indeed produce gravitational waves detectable by LIGO, Crockett says. However, the waves are generated at the heart of stellar explosions, regardless of whether or not those explosions “fail” and collapse into black holes. It would be difficult to tell the difference between a supernova and a failed one from the gravitational waves alone, says Fermilab’s James Annis.

Gaggle of stars get official names

For centuries, stargazers have known which star was Polaris and which was Sirius, but those designations were by unofficial tradition. The International Astronomical Union, arbiter of naming things in space, has now blessed the monikers of 227 stars in our galaxy. As of November 24, names such as Polaris (the North Star) and Betelgeuse (the bright red star in Orion) are approved.

Until now, there has been no central star registry or guidelines for naming. There are many star catalogs, each one designating stars with different combinations of letters and numbers. That excess of options has left most stars with an abundance of labels (HD 8890 is one of over 40 designations for Polaris).

The tangle of titles won’t disappear, but the new IAU catalog is a stab at formalizing the more popular names. Before this, only 14 stars (included in the 227) had been formally named, as part of the IAU’s contest to name notable exoplanets and the stars that they orbit (SN: 2/6/16, p. 5). One famous star is returning to its ancient roots. The brightest member of Alpha Centauri, the pair of stars that are among the closest to our solar system, is now officially dubbed Rigil Kentaurus, an early Arabic name meaning “foot of the centaur.”

Dinosaur tail preserved in amber, with feathers

In a golden chunk of 99-million-year-old amber, paleontologists have spotted something extraordinary: a tiny dinosaur tail with pristinely preserved feathers.

At a shade under 37 millimeters, about the length of a matchstick, the tail curves through the amber, eight full sections of vertebrae with mummified skin shrink-wrapped to bone. A full-bodied bush of long filaments sprouts along the tail’s length, researchers report December 8 in Current Biology.

It’s “an astonishing fossil,” writes study coauthor Lida Xing of the China University of Geosciences in Beijing and colleagues. Researchers have found Cretaceous feathers trapped in amber before, but the new find is the first with clearly identifiable bits of dinosaur included. The tail bones of the new fossil gave Xing’s team a clue to the dinosaur’s identity. It may have been a young coelurosaur that looked something like a miniature Tyrannosaurus rex.
Unlike dinosaur feathers pressed flat into rock, feathers in amber can offer more information about structure, the authors suggest. In amber, “the finest details of feathers are visible in three dimensions,” Xing and colleagues write.

The little dinosaur’s feathers lack a well-developed rachis, the narrow shaft that runs down the middle of some feathers, including those used by modern birds for flight. Instead, the dino’s feathers may have been ornamental, the authors say. Microscopy images suggest that the feathers were chestnut brown on top, and nearly white underneath.

Zika induces brain cell die-off

SAN FRANCISCO — Zika causes fetal brain cells neighboring an infected cell to commit suicide, David Doobin of Columbia University Medical Center reported December 6 at the annual meeting of the American Society for Cell Biology. In work with mice and rats, Doobin and colleagues found hints that the cell death might be the body’s attempt to limit the virus’ spread.

The scientists applied techniques they had used to investigate a genetic cause of microcephaly to narrow when in pregnancy the virus is most likely to cause the brain to shrink. Timing of the virus’s effect varied by strain. For one from Puerto Rico, brain cell die-off happened in mice only in the first two trimesters. But a strain from Honduras could kill developing brain cells later in pregnancy.

Earth’s mantle is cooling faster than expected

SAN FRANCISCO — Earth’s innards are cooling off surprisingly fast.

The thickness of new volcanic crust forming on the seafloor has gotten thinner over the last 170 million years. That suggests that the underlying mantle is cooling about twice as fast as previously thought, researchers reported December 13 at the American Geophysical Union’s fall meeting.

The rapid mantle cooling offers fresh insight into how plate tectonics regulates Earth’s internal temperature, said study coauthor Harm Van Avendonk, a geophysicist at the University of Texas at Austin. “We’re seeing this kind of thin oceanic crust on the seafloor that may not have existed several hundred million years ago,” he said. “We always consider that the present is the clue to the past, but that doesn’t work here.”
The finding is fascinating, though the underlying data is sparse, said Laurent Montési, a geodynamicist at the University of Maryland in College Park. Measuring the thickness of seafloor crust requires seismic studies, and “you don’t have that everywhere; there’s nothing in the South Pacific, for example.” Still, he said, “it’s amazing that we can see the signature of the cooling of the Earth.” The finding could help explain why supercontinents such as Pangaea break apart, he added.

Earth’s mantle is made up of hot rock under high pressures. As material rises toward Earth’s surface, pressures drop and the rock starts melting. This molten material can spew onto the surface at mid-ocean ridges and construct new crust. When mantle temperatures are hotter, the melt zone is larger and the resulting crust is thicker. Near the upper boundary with the crust, mantle temperatures range from about 500° to 900° Celsius.

Comparing the thickness of oceanic crust of different ages, Van Avendonk and colleagues discovered that 170-million-year-old crust is 1.7 kilometers thicker on average than fresh crust. Chemical analyses of lava rocks suggest Earth’s mantle has cooled about 6 to 11 degrees on average every 100 million years over the last 2.5 billion years. But since the mid-Jurassic about 170 million years ago, the mantle has cooled around 15 to 20 degrees on average per 100 million years, the researchers estimate. While scientists expected the mantle to cool over time as heat left over from Earth’s formation and from radioactive decay dissipates, this degree of cooling was surprising.

Plate tectonics is causing this rapid cooldown, the researchers proposed. The sinking, shifting and formation of plates drive convection in the planet’s interior that shifts heat. This process also controls how fast different regions of the mantle cool. While mantle temperatures below the Pacific Ocean have decreased around 13 degrees per 100 million years, the mantle below the Atlantic and Indian oceans has cooled about 37 degrees per 100 million years.

The difference between the oceans is their distance to continents. The Atlantic and Indian oceans opened when the Pangaea supercontinent ripped apart. Before then, the underlying mantle was covered by continental crust, which served as an insulating blanket that kept mantle temperatures toasty, Van Avendonk proposed. As Pangaea split and the continents shifted, the mantle beneath the young oceans began cooling much faster. Over that same time period, the Pacific Ocean was largely isolated from the continents and cooled more gradually.
The insulating effect of the Pangaea supercontinent could help explain what drives Earth’s cycle of supercontinent formation and breakup, Montési said. Heat may build up underneath supercontinents, ultimately generating a massive rising plume of hot rock that splits the landmass apart. “This could explain why you get a breakup about 100 million years after you get a supercontinent assembled,” he said.

Megadiamonds point to metal in mantle

Imperfections in supersized diamonds are a bummer for gem cutters but a boon for geologists. Tiny metal shards embedded inside Earth’s biggest diamonds provide direct evidence that the planet’s rocky mantle contains metallic iron and nickel, scientists report in the Dec. 16 Science.

The presence of metal in the mantle is “something that’s been predicted in theory and experiments for a number of years, but this is the first time that we have samples that give us physical evidence,” says Evan Smith, a geologist at the Gemological Institute of America in New York City who led the study.
Understanding the composition of the mantle can help scientists figure out how it drives plate tectonics, and how elements like carbon and oxygen are cycled and stored in the Earth.

Diamonds form in the mantle when carbon-containing compounds are compressed and heated to great temperatures (SN: 4/30/16, p. 8). During this process, traces of other elements can sneak in as “inclusions.” Inclusions make the mineral less valuable as a gemstone, and chunks with many such imperfections are often rejected by jewelers. But to scientists, such stowaways are priceless: They provide some of the only physical evidence available of what’s going on deep inside Earth.
Smith and his colleagues used lasers to identify inclusions in samples from some of Earth’s largest diamonds. Some diamonds like these were originally hundreds or even thousands of carats. The Cullinan Diamond, for instance, was as big as two stacked decks of cards and weighed 621 grams, or more than a pound.
By analyzing the inclusions in 53 diamond samples, Smith’s team found that the megadiamonds formed much deeper than ordinary diamonds — hundreds of kilometers down, in a different part of the mantle.

“Not only are [these diamonds] very large and very valuable, but they appear to be very special in terms of their origin,” says Graham Pearson, a geochemist at the University of Alberta in Canada who wasn’t part of the study. Other minerals brought up from such a depth don’t preserve chemical clues to their environment in the same way.

In the deep diamonds, Smith found inclusions made of a mixture of solidified iron, nickel, carbon and sulfur, surrounded by a thin skin of methane and hydrogen.

Aside from the molten metal core, most iron inside Earth is thought to be incorporated into other minerals, not as a stand-alone metal, says Pearson.

But the metallic inclusions suggest that the part of the mantle where the large diamonds formed contains iron and nickel as metals. And the fact that the metals hadn’t reacted with other elements to form compounds suggests that the diamonds’ birthplace probably contains very little oxygen.

Smith thinks the metallic mixture was probably molten at the time the diamonds were forming. Instead of being sprinkled throughout like grated parmesan on spaghetti, ribbons of iron and nickel might have rippled through the mantle like gooey cheddar-jack through mac-and-cheese.

“You need very special conditions to get a metallic melt,” says Catherine McCammon, a geologist at the University of Bayreuth in Germany. So the idea that diamonds carry evidence of these conditions in the mantle is “pretty mind-blowing.”

Hidden Figures highlights three black women who were vital to the U.S. space program

Hollywood space flicks typically feature one type of hero: astronauts who defy the odds to soar into space and back again. But now a group of behind-the-scenes heroes from the early days of the U.S. space program are getting their due. Black female mathematicians performed essential calculations to safely send astronauts to and from Earth’s surface — in defiance of flagrant racism and sexism.

These “computers” — as they were known before the electronic computer came into widespread use — are the subject of Hidden Figures. The film focuses on three black women — Katherine Johnson (played by Taraji P. Henson), Dorothy Vaughan (Octavia Spencer) and Mary Jackson (Janelle Monáe) — and their work at NASA’s Langley Research Center in Hampton, Va., during the run-up to John Glenn’s orbit of the Earth in 1962.
A mathematics virtuoso, Katherine Johnson calculated or verified the flight trajectories for many of the nation’s space milestones. The film showcases her work on two: the first American in space (Alan Shepard), and the first American to orbit the Earth (John Glenn). But Johnson also had a hand in sending the first men to the moon, during the Apollo 11 mission, and when the Apollo 13 astronauts ran into trouble, Johnson worked on the calculations that helped them get home safely.

Mary Jackson worked on wind tunnel experiments at Langley, where she tested how spacecraft performed under high winds. The film follows Jackson as she overcomes obstacles of the Jim Crow era to become NASA’s first black female engineer. Though the movie focuses on her triumphant rise, after decades in that role, Jackson grew frustrated with the remaining glass ceilings and moved into an administrative role, helping women and minorities to advance their careers at NASA.
Johnson and Jackson got their start under the leadership of Dorothy Vaughan, who led the segregated group of “colored computers,” assigning black women to assist with calculations in various departments. As electronic computers became more essential Vaughan recognized their importance and became an expert programmer. A scene where she surreptitiously takes a book from whites-only section of a public library — a guide to the computing language FORTRAN — is a nod to Vaughan’s prowess with the language.
Electronic computers were so unfamiliar in the 1960s that everyone from engineers to astronauts felt more confident when a human computer calculated the numbers. After a room-sized IBM mainframe spits out figures for his trajectory, John Glenn requests, “Get the girl to check the numbers” — meaning Johnson. In the film, that request culminates in Johnson running a frantic last-minute check of the numbers and sprinting across the Langley campus while Glenn waits. In reality, that process took a day and a half.

For spaceflight fans, Hidden Figures provides an opportunity to be immersed in a neglected perspective. The women’s stories are uplifting, their resilience impressive and their retorts in response to those who underestimate them, witty.

But viewers should be aware that, although the main facts underpinning the plot are correct, liberties have been taken. Some of the NASA higher-ups in the film — including Johnson’s supervisor Al Harrison (Kevin Costner) — are not real people. And presumably because number crunching tends to be a bit thin in the suspense department, the filmmakers have dramatized some scenes — Johnson is pictured in Mission Control during Glenn’s flight, but in reality she watched it on television — which seems a shame because the contributions of these women don’t need to be exaggerated to sound momentous.

Gotcha: Fast radio burst’s home nabbed

GRAPEVINE, TEXAS — A mysterious, recurring blast of cosmic radio waves finally has a home address. For the first time, astronomers have definitively traced a fast radio burst back to its source: a faint galaxy about 2.5 billion light-years away. The finding confirms a decade-long suspicion that these outbursts originate well outside our galaxy, although the mystery as to what’s causing them remains unsolved.

“Now with the first proven distance, we can see how remote and how bright the source must be,” Sarah Burke-Spolaor, an astrophysicist at West Virginia University, said January 4 at a meeting of the American Astronomical Society. For roughly five milliseconds, the burst outshined all the stars in its own galaxy and rivaled the luminosity of blazing disks of gas that swirl around supermassive black holes, said Burke-Spolaor, one of the researchers involved with the project.
Fast radio bursts have stumped astronomers since the first one was reported in 2007 (SN: 8/9/14, p. 22). Since then, 17 more bursts have been detected by several radio telescopes around the world. In nearly every case, the outburst lasted just a few milliseconds and was never seen again. Only one, first detected at the Arecibo Observatory in Puerto Rico in 2012, has been seen multiple times (SN Online: 12/21/16).

Most radio telescopes can provide only a fuzzy idea of where on the sky a burst comes from. But the repetitive nature of this burst, dubbed FRB 121102, gave astronomers a heads up of where to point the Very Large Array, a network of radio dishes near Socorro, N.M., which could provide a sharper image.

“We have imaged the burst itself with the VLA and pinpointed where it is on the sky,” said Shami Chatterjee, an astrophysicist at Cornell University. Over the span of six months, the VLA detected nine outbursts coming from the same direction as previous repetitions. A persistent glow of radio waves also comes from the same spot. Further observations with the Gemini telescope in Hawaii revealed that the radio outbursts coincide with a faint galaxy. By measuring how much the expansion of the universe has stretched the light coming from the galaxy, the researchers were able to measure the distance to the source of the burst.
The findings appear in a paper in the Jan. 5 Nature and two papers in the Jan. 10 Astrophysical Journal Letters.
“Without a doubt, this is a landmark event,” said Duncan Lorimer, an astrophysicist at West Virginia University who was not involved with these studies but did discover the first radio burst roughly a decade ago. “There’s no question about the validity of the result.”

The host galaxy is tiny. “We’re barely able to distinguish it from a star,” said project member Shriharsh Tendulkar, an astrophysicist at McGill University in Montreal. It has roughly one one-thousandth of the stars as the Milky Way and is less than one-tenth as wide. “That’s weird,” he said. One favored explanation for fast radio bursts is that they come from neutron stars, the dense cores left behind after a massive star explodes. But if neutron stars are responsible, then astronomers expect to find bursts in places with lots of stars, Tendulkar said.

Tracing FRB 121102 back to a dwarf galaxy doesn’t rule out neutron stars as a source. The gas in dwarf galaxies is more pristine than in other locales such as the Milky Way — with relatively low amounts of elements heavier than helium. Such gas makes it easier for massive stars to form. More heavyweight stars lead to more neutron stars, which could lead to more radio bursts.

Some of the new data, however, also suggest that the source sits near a supermassive black hole, indicating that perhaps the radio blast is somehow connected to gas and dust swirling down the black hole’s gravitational throat.

“We’ve made this huge breakthrough in getting the distance, and it still doesn’t want to let its identity be known,” Lorimer said.

With a host galaxy in hand, astronomers can now point telescopes covering a broad range of the electromagnetic spectrum — from radio waves to gamma rays — at the galaxy to learn more about the burst’s home. One thing that researchers will look for is whether or not the bursts have a steady beat; all the detections so far have appeared randomly. If the signal has a regular period, then something that is spinning (like a neutron star) might be the culprit. Pinpointing more radio bursts and seeing if they originate in dwarf galaxies could also help researchers figure out if this object is unusual or typical of all radio bursts.

Pain promoter also acts as pain reliever

A protein that sounds the alarm when the body encounters something painful also helps put out the fire.

Called Nav1.7, the protein sits on pain-sensing nerves and has long been known for sending a red alert to the brain when the body has a brush with pain. Now, experiments in rodent cells reveal another role for Nav1.7: Its activity triggers the production of pain-relieving molecules. The study, published online January 10 in Science Signaling, suggests a new approach to pain management that takes advantage of this protein’s dual role.
“This is very interesting research,” says neuroscientist Munmun Chattopadhyay of Texas Tech University Health Sciences Center El Paso. The findings suggest that when opiates are given for certain kinds of pain relief, also targeting Nav1.7 might lessen the need for those pain relievers, Chattopadhyay says. That could reduce opiate use and their associated side effects.

The new research also solves a puzzle that has frustrated researchers and pharmaceutical companies alike. People with rare mutations in the gene for making Nav1.7 feel no pain at all. That discovery, made more than a decade ago, suggested that Nav1.7 was an ideal target for controlling pain. If a drug could block Nav1.7 activity, some kinds of pain might be eradicated (SN: 6/30/12, p 22). Yet drugs designed to do just that didn’t wipe out people’s pain.

“It seemed so obvious and simple,” says study leader Tim Hucho, a neuroscientist at the University Hospital Cologne in Germany. “But it was not so simple.”

Then in 2015, researchers reported that mice and people with nonfunctioning Nav1.7 not only felt no pain, but they also made higher than normal levels of pain-relieving opioids naturally produced by the body. When these researchers, led by John Wood of University College London, gave the opiate-blocker naloxone to a woman with the rare pain-eradicating mutation, she felt pain for the first time.

“It was astonishing,” says Hucho, whose collaborators on the new research include Wood.
Pain-sensing proteins like Nav1.7 work by prompting nerve cells to send electrical signals. But in this case, Nav1.7 was influencing a nonelectrical process — it was somehow cranking up the activity of genes in charge of making in-house opioids. “It turned the whole field upside down,” Hucho says.

An investigation of rat and mice nerve cells reveals the tug-of-war between Nav1.7’s pain-promoting and pain-relieving powers. Cells with nonfunctioning Nav1.7 have amped up activity in the cellular machinery that kicks off pain relief, Hucho and colleagues report. They suggest that Nav1.7 acts like the axis point in a playground seesaw. When the pain-promoting side is dialed down, the pain-relieving side becomes more dialed up than usual, and cells make more of their in-house opioids.

When opiates are given for pain, the body typically gets used to them and increasing amounts of the drugs are required to have an effect. Yet in the experiments with the rodent cells, this desensitization didn’t happen. The cellular machinery that interacts with the body’s homemade opioids remained sensitive to the pain relievers, even with the uptick in their production.

Taken together, the results suggest that rather than trying to push down on one side of the seesaw to stop pain, a better approach might be moving the axis at the seesaw’s center, says Hucho, tipping the scales toward in-house opioid production, while also dialing down pain promotion. The experimental design by Hucho and University Hospital Cologne colleague Jörg Isensee will make it much easier to explore how manipulations might tip the balance, the researchers say. Much more research is needed before the finding will translate into treating pain in people, but it hints at a new strategy: Rather than trying to stop pain via opiates alone, pain relief might come when such drugs are taken with a Nav1.7 blocker.