One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases

In a study published in Genetics in Medicine, researchers analyzed genetic data collected on over 200,000 UK men aged 40-70 from UK Biobank, a biomedical database and research resource containing anonymized genetic, lifestyle and health information from half a million UK participants. They found 356 men who carried either an extra X chromosome or an extra Y chromosome.

Sex chromosomes determine our biological sex. Men typically have one X and one Y chromosome, while women have two Xs. However, some men also have an extra X or Y chromosome – XXY or XYY.

Without a genetic test, it may not be immediately obvious. Men with extra X chromosomes are sometimes identified during investigations of delayed puberty and infertility; however, most are unaware that they have this condition. Men with an extra Y chromosome tend to be taller as boys and adults, but otherwise they have no distinctive physical features.

In today’s study, the researchers identified 213 men with an extra X chromosome and 143 men with an extra Y chromosome. As the participants in UK Biobank tend to be ‘healthier’ than the general population, this suggests that around one in 500 men may carry an extra X or Y chromosome.

Only a small minority of these men had a diagnosis of sex chromosome abnormality on their medical records or by self-report: fewer than one in four (23%) men with XXY and only one of the 143 XYY men (0.7%) had a known diagnosis.

By linking genetic data to routine health records, the team found that men with XXY have much higher chances of reproductive problems, including a three-fold higher risk of delayed puberty and a four-fold higher risk of being childless. These men also had significantly lower blood concentrations of testosterone, the natural male hormone. Men with XYY appeared to have a normal reproductive function.

Perpetual motion is possible

Researchers cooled a helium-3 superfluid down to one ten-thousandth of a degree from absolute zero and proceeded to create two time-crystals inside the liquid.
Credit: Mikko Raskinen / Aalto University.

Professor and Nobel laureate in Physics Frank Wilczek, who also recently visited Aalto University to speak at a colloquium of Finland’s foremost quantum community InstituteQ, theorised the existence of time-crystals in 2012. They were experimentally confirmed to exist in 2016.

Now researchers have succeeded in creating and observing the interaction of two time-crystals in an experiment at Aalto University’s Low Temperature Lab.

The study was recently published in Nature Communications.

In an ordinary crystal the atoms or molecules comprising it have organized themselves into a regular crystal structure. Conversely, a time-crystal is a grouping of particles that moves without external energy, always returning to the same state in certain intervals. That means its regularity is expressed in time rather than in space.

‘Everyone knows perpetual motion machines are impossible. However, in quantum physics perpetual motion itself is possible as long as it’s not observed. By weakly connecting the particles to their environment, we were able to create up to two time-crystals and make them interact,’ says Samuli Autti, researcher at Lancaster University who carried out the experiment at Aalto.

Seeking COVID’s Kryptonite

Photos of the setup. Left: A closeup of the interior of the box containing the laser-to-fiber-optic coupling system. Center: The laser system in the hallway outside the door to BSL-3. Right: A closeup of the experimental setup inside BSL-3, including the chamber the housed the samples of SARS-CoV-2.
 Credit: NIST

To disinfect a surface, you can illuminate it with a blast of ultraviolet (UV) light, which is bluer than the human eye can see. But to specifically inactivate SARS-CoV-2, the virus that causes COVID-19, which wavelengths are best? And how much radiation is enough?

Answering those questions requires scientists to overcome two main obstacles. First, they need to separate the virus completely from extraneous substances in the environment. Second, they need to illuminate the virus with a single wavelength of UV light at a time, with minimal changes to the experimental setup between tests.

A recent collaboration between the National Institute of Standards and Technology (NIST) and the National Biodefense Analysis and Countermeasures Center (NBACC), a U.S. Department of Homeland Security Science and Technology Directorate laboratory, overcame both these obstacles and completed what may be the most thorough test ever conducted of how several different UV and visible wavelengths affect SARS-CoV-2.

In a new paper published this week in Applied Optics, the collaborators describe their novel system for projecting a single wavelength of light at a time onto a sample of COVID-19 virus in a secure laboratory. Classified as Biosafety Level 3 (BSL-3), the lab is designed for studying microbes that are potentially lethal when inhaled. Their experiment tested more wavelengths of UV and visible light than any other study with the virus that causes COVID-19 to date.

Researchers find ten-billion-year-old “ghost stars” from swallowed galaxy

Two galaxies merging 
Illustration: International Gemini Observatory/NOIRLab/NSF/AURA/J. da Silva

Astronomers at Lund University in Sweden have found a group of stars in the Milky Way disk, that are most likely remnants from an unknown baby galaxy that was swallowed by the Milky Way over 10 billion years ago. Nothing like it has been discovered in the galaxy disk before.

After the Big Bang 13.8 billion years ago, space was a veritable Wild West. Stars formed inside huge gas clouds that collided and fused into larger and larger clouds. However, after a few billion years of space chaos, galaxy embryos became more stable, eventually evolving into well-ordered spiral galaxies, such as the Milky Way. In a new study on the origins of the Milky Way, published in Astrophysical Journal, a research team has made a surprising discovery.

“We have found traces of a smaller galaxy that was swallowed by the Milky Way. This intergalactic relic was indirectly discovered through a population of ten-billion-year-old stars in the Milky Way's disk. This is the first time such old stars have been found in the disk that show signs of coming from another galaxy”, says Diane Feuillet, astronomer at Lund University who led the study.

Clouds played an important role in climate history

Clouds have a strong influence on ice ages in earth's history. The simulation shows a snapshot of the cloud cover in the lowest layer of the atmosphere (up to approx. three kilometers above the surface of the earth) in an assumed water belt climate. The color scale ranges from "no cloud cover" (dark blue) to "fully covered" (white)
Credit Graphic: IMK-TRO

Were the world's oceans in cryogenium - around 700 million years ago - completely covered with ice or an ice-free water belt stretched around the equator, in which sponges and other life forms could survive? A research team from the Karlsruhe Institute of Technology (KIT) and the University of Vienna has now been able to show in global climate models that a climate condition with a water belt is rather unlikely and therefore not a reliable explanation for the persistence of life in the cryogenium. The reason for this is the uncertain influence of clouds on the climate at that time. The team presents the results of the study in the journal Nature geoscience.

From space, Earth might have looked like a big snowball during the global ice ages in the Cryogenium. Geoscience therefore describes this assumption of a closed sea ice sheet established in research as a snowball earth theory. It is still particularly unclear how sponges - of which fossil finds testify - could have survived in the very cold snowball earth climate. Therefore, some researchers have proposed an ice-free water belt around the equator as an alternative theory.

Genetic analysis of tree confirms what Indigenous people of Borneo knew

The pingan tree’s fruit (left) is distinct from the lumok tree’s (right), but Western scientists misclassified the two trees as one species for almost two centuries.
Credit: left, Elias Ednie; right, Elliot Gardner

A study led by Northwestern University plant biologists has determined that a species of fruit-bearing tree found in Borneo and the Philippines, long considered by Western botanists to be a single species, is actually two genetically distinct species.

The findings confirm what the Iban people, who are indigenous to Borneo, already knew from experience: The tree has two different varieties, which they call lumok and pingan, distinguished by their fruit size and shape.

The researchers conducted a genetic analysis of Artocarpus odoratissimus, a single species in current Linnaean taxonomy, first described to western science by a Spanish botanist close to 200 years ago. Throughout the scientific process, the team engaged with Indigenous people to combine their knowledge with DNA data.

The study, which includes Malaysian scientists and Iban field botanists as authors, was published this week in the journal Current Biology.

Native Americans Name Asteroid 'Ayló'chaxnim or 'Venus Girl'

Members of the Pauma band pose inside the dome of the 200-inch Hale Telescope.
Credit: Palomar Observatory/Caltech

On June 7, at Caltech's Palomar Observatory in the forested mountain outside San Diego, members of the Pauma band of indigenous peoples gathered to celebrate the naming of the first known asteroid to circle entirely within the orbit of Venus. The asteroid was originally discovered in 2020 by the Zwicky Transient Facility, or ZTF, which operates at the Palomar Observatory. Sometime after its discovery, the ZTF team decided to ask the Pauma band, whose ancestral lands include the mountainous region where the observatory is located, if they would like to bestow the new cosmic find with a name of their choosing.

Ultimately, the indigenous group chose to name the asteroid 'Ayló'chaxnim, which means "Venus girl" in their native language of Luiseño.

The Palomar naming ceremony included blessings, traditional Pauma songs, and a reading of a poem titled Luiseño Songs of the Seasons, which describes how "it will soon be time for the acorns to fall from the trees" when "Venus is rising."

How ‘viral dark matter’ may help mitigate climate change

A network-based ecological interaction analysis showed the diversity of RNA viral species was higher than expected in the Arctic and Antarctic.
Photo Credit: Tara Ocean Foundation

A deep dive into the 5,500 marine RNA virus species scientists recently identified has found that several may help drive carbon absorbed from the atmosphere to permanent storage on the ocean floor.

Ahmed Zayed

The analysis also suggests that a small portion of these newly identified species had “stolen” genes from organisms they infected, helping researchers identify their presumed hosts and functions in marine processes.

Beyond mapping a fount of foundational ecological data, the research is leading to a fuller understanding of the outsize role these tiny particles play in the ocean ecosystem.

“The findings are important for model development and predicting what is happening with carbon in the correct direction and at the correct magnitude,” said Ahmed Zayed, a research scientist in microbiology at The Ohio State University and co-first author of the study.

The question of magnitude is a serious consideration when taking into account the vastness of the ocean.

Lead author Matthew Sullivan, professor of microbiology at Ohio State, envisions identifying viruses that, when engineered on a massive scale, could function as controllable “knobs” on a biological pump that affects how carbon in the ocean is stored.

Anti-Aging Clues Lurk in Lysosomes, the Recycling Centers of the Cell

HHMI Investigator Meng Wang is studying the secrets to longevity. Her team has shown how the lysosome plays a role in aging.
Credit: Anthony Rathbun/AP Images for HHMI

For decades, biology students have learned that lysosomes – tiny sacs found within nearly all cells – had a singular task: to gobble up bits of foreign material and worn-out cell parts. The aim? To break them down for recycling.

But that lesson might soon need revising. Now, scientists are learning that molecules produced during the recycling process can also serve as signals that talk to other parts of the body.

These signals seem to play a role in determining how and when organisms grow old. Cells in different organs and tissues around the body send signals to one another constantly, says Meng Wang, an HHMI Investigator at Baylor College of Medicine. “When we’re young, everything is connected and communicating. But as we age, some of these connections are lost and function declines.”

Wang has spent the past seven years exploring the link between longevity and the signals lysosomes produce. Her team previously discovered that such signaling occurs within cells. Now, they have found evidence that the anti-aging messages are transmitted between cells too, and among different tissues, Wang and her colleagues reported in a preprint on bioRxiv.org and later on June 9, 2022, in the journal Nature Cell Biology. The results suggest that lysosome signals help coordinate the body’s aging process – and prolong the lives of some organisms.

‘Fantastic giant tortoise,’ believed extinct, confirmed alive in the Galápagos

Fernanda, the only known living Fernandina giant tortoise, now lives at the Galápagos National Park’s Giant Tortoise Breeding Center on Santa Cruz Island. Princeton geneticist Stephen Gaughran recently confirmed that she comes from the same species as a tortoise collected from the island more than a century ago, and those two are genetically distinct from all other Galápagos tortoises. 
Photo Credit: Galápagos Conservancy

A tortoise from a Galápagos species long believed extinct has been found alive and now confirmed to be a living member of the species. The tortoise, named Fernanda after her Fernandina Island home, is the first of her species identified in more than a century.

The Fernandina Island Galápagos giant tortoise (Chelonoidis phantasticus, or “fantastic giant tortoise”) was known only from a single specimen, collected in 1906. The discovery in 2019 of a female tortoise living on Fernandina Island provided the opportunity to determine if the species lives on. By sequencing the genomes of both the living individual and the museum specimen, and comparing them to the other 13 species of Galápagos giant tortoises, Princeton’s Stephen Gaughran showed that the two known Fernandina tortoises are members of the same species, genetically distinct from all others. He is co-first author on a paper in the current issue of Communications Biology confirming her species’ continued existence.

“For many years it was thought that the original specimen collected in 1906 had been transplanted to the island, as it was the only one of its kind,” said Peter Grant, Princeton’s Class of 1877 Professor of Zoology, Emeritus and an emeritus professor of ecology and evolutionary biology who has spent more than 40 years studying evolution in the Galápagos islands. “It now seems to be one of a very few that were alive a century ago.”