Gene behind freckles, brown hair and blue eyes found

November 23, 2013

boards.weddingbee.comWashington, Nov 23: In the study of Icelanders, researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen associated with human pigmentation traits.

It is more common to find people with ancestors from geographic locations farther from the equator, such as Iceland, who have less pigment in their skin, hair and eyes.

The researchers, including scientists from the National Human Genome Research Institute (NHGRI), analysed data from a genome-wide association study (GWAS) of 2,230 Icelanders.

A GWAS compares hundreds of thousands of common differences across individuals' DNA to see if any of those variants are associated with a known trait.

"This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors," said NHGRI Scientific Director Dan Kastner.

Researchers focused on the interferon regulatory factor 4 (IRF4) gene, previously associated with immunity. IRF4 makes a protein that spurs production of interferons, proteins that fight off viruses or harmful bacteria.

The researchers noted from genomic databases that the IRF4 gene is expressed at high levels only in lymphocytes, a type of white blood cell important in the immune system, and in melanocytes, specialized skin cells that make the pigment melanin. The new study established an association between the IRF4 gene and the pigmentation trait.

"Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome," said William Pavan, co-author and senior investigator, Genetic Disease Research Branch, NHGRI.

The Icelandic GWAS yielded millions of variants among individuals in the study. The researchers narrowed their study to 16,280 variants located in the region around the IRF4 gene.

They used an automated fine-mapping process to explore the set of variants in IRF4 in 95,085 people from Iceland. The data revealed that a variant in a non-coding, enhancer region that regulates the IRF4 gene is associated with the combined trait of sunlight sensitivity, brown hair, blue eyes and freckles.

The study was reported in the journal Cell.

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News Network
March 6,2020

Mar 6: The spread of the new coronavirus is shining the spotlight on a little-discussed gender split: men wash their hands after using the bathroom less than women, years of research and on-the-ground observations show.

Health officials around the world advise that deliberate, regular handwashing is one of the best weapons against the virus which causes a flu-like respiratory illness that can kill and has spread to around 80 countries.

The Centers for Disease Control and Prevention's online fact sheet "Handwashing: A corporate activity," cites a 2009 study that finds "only 31% of men and 65% of women washed their hands" after using a public restroom.

Social media comments about men's handwashing lapses forced an august British institution to caution visitors about bathroom behaviour this week.

After author Sathnam Sanghera complained on Twitter about "grown," "educated" men in the British Library toilets not washing their hands, the library responded, putting up additional signs reminding patrons to wash their hands in men's and women's bathrooms.

Thanks to "visitor feedback," a spokesman told Reuters, "we have increased further the number of posters in public toilets so that visitors are reminded of the importance of good hygiene at exactly the point where they can wash their hands."

Men and women approach handwashing after using the restroom differently, according to multiple surveys and field studies.

"Women wash their hands significantly more often, use soap more often, and wash their hands somewhat longer than men," according to a 2013 Michigan State University field study conducted by research assistants who observed nearly 4,000 people in restrooms around East Lansing, Michigan.

The study found 14.6% of men did not wash their hands at all after using the bathroom and 35.1% wet their hands but did not use soap, compared to 7.1% and 15.1% of women, respectively.

"If you stand in the men's bathroom at work, and watch men leave, they mostly don't wash their hands if they used the urinal," said one New York City public relations executive, who did not want to be identified for fear of alienating his colleagues.

Since the virus's spread, he's seen an uptick in men's handwashing at work, he noted. "I, for the record, do wash my hands all the time," he added.

Female medical staff in critical care units "washed their hands significantly more often than did their male counterparts after patient contact," a 2001 study published in the American Journal of Infection Control found.

Middle-aged women with some college education had the highest level of knowledge about hand hygiene, a survey published in 2019 by BMC Public Health, an open access public health journal, found.

Early information about coronavirus infection in China shows that men may be more susceptible to the disease. Just over 58% of the more than 1,000 COVID-19 patients reported in China through Jan. 29, 2020, were male, research published in the New England Journal of Medicine shows.

Researchers have not linked the difference to hand hygiene.

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Agencies
June 22,2020

A team of scientists has produced first open source all-atom models of full-length COVID-19 Spike protein that facilitates viral entry into host cells – a discovery that can facilitate a faster vaccine and antiviral drug development.

The group from Seoul National University in South Korea, University of Cambridge in the UK and Lehigh University in the US produced the first open-source all-atom models of a full-length S protein.

The researchers say this is of particular importance because the S protein plays a central role in viral entry into cells, making it a main target for vaccine and antiviral drug development.

"Our models are the first full-length SARS-CoV-2 spike (S) protein models that are available to other scientists," said Wonpil Im, a professor in Lehigh University.

"Our team spent days and nights to build these models very carefully from the known cryo-EM structure portions. Modeling was very challenging because there were many regions where simple modeling failed to provide high-quality models," he wrote in a paper published in The Journal of Physical Chemistry B.

Scientists can use the models to conduct innovative and novel simulation research for the prevention and treatment of Covid-19.

Though the coronavirus uses many different proteins to replicate and invade cells, the Spike protein is the major surface protein that it uses to bind to a receptor.

The total number of global COVID-19 cases was nearing 9 million, while the deaths have increased to over 467,000, according to the Johns Hopkins University.

With 2,279,306 cases and 119,967 deaths, the US continues with the world's highest number of COVID-19 infections and fatalities, according to the CSSE.

Brazil comes in the second place with 1,083,341 infections and 50,591 deaths.

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News Network
January 31,2020

Jan 31: Cervical cancer could be eliminated worldwide as a public health issue within the next 100 years, according to two studies which may lead to better strategies for screening and vaccination against the malignant disease.

According to the studies, published in the journal The Lancet, more than 74 million cervical cancer cases, and 60 million deaths could be averted, and the disease eliminated in the 78 countries which have the highest disease burden.

The researchers, including those from Laval University in Canada, said cervical cancer is the second most frequent cancer among women in low-income and lower-middle-income countries (LMICs) with 2,90,000 (51 per cent) of the 5,70,000 new cases worldwide reported in women living in LMICs.

In the current studies, the scientists used the WHO draft strategy of cervical cancer elimination which defines plans for vaccination against the disease's causative agent, the human papillomavirus (HPV).

These plans, they explained, call for 90 per cent of girls to be vaccinated against HPV by 2030, and for 70 per cent of women to be screened for cervical cancer once or twice in their lifetime.

About 90 per cent of women with precancerous lesions, or cervical cancer are also advised to receive appropriate treatment, according to the WHO draft strategy, the scientists said.

In the second study, the research team analysed the impact of three elements of the WHO strategy on deaths from cervical cancer -- modelling the impact of scaling up cancer treatment, as well as vaccination and screening

"Our findings emphasise the importance of acting immediately to combat cervical cancer on all three fronts," said Karen Canfell from the University of Sydney in Australia, who co-led both the studies.

"In just 10 years, it's possible to reduce deaths from the disease by a third and, over the next century, more than 60 million women's lives could be saved. This would represent an enormous gain in terms of both quality of life, and lives saved," Canfell said.

By adding the two screening tests, and with the treatment of precancerous cervical lesions, cases of the cancer may drop by 97 per cent, and 72 million cervical cancer cases could be averted over the next century, the researchers said.

Scaling-up of appropriate cancer treatment could avert 62 million cervical cancer deaths, the study noted.

"For the first time, we've estimated how many cases of cervical cancer could be averted if WHO's strategy is rolled out and when elimination might occur," said Marc Brisson, study co-author from Laval University.

"Our results suggest that to eliminate cervical cancer it will be necessary to achieve both high vaccination coverage, and a high uptake of screening and treatment, especially in countries with the highest burden of the disease," Brisson added.

Based on the results of the studies, WHO's cervical cancer elimination strategy has been updated which will be presented for adoption at the World Health Assembly in May 2020, the scientists noted.

"If the strategy is adopted and applied by member states, cervical cancer could be eliminated in high income countries by 2040, and across the globe within the next century, which would be a phenomenal victory for women's health," Brisson said.

"However, this can only be achieved with considerable international financial and political commitment, in order to scale-up prevention and treatment," he added.

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