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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Agencies
May 9,2020

17-year-old Pratyusha Jha, wakes up scrambling for newspapers these days to look for any news about her pending board exams and is anxious about what the future has in store for her.

Similar concerns are shared by Bipin Kumar, a class 12 student, who says the announcement of board exams from July 1 to 15 brought limited clarity as the larger questions remain unanswered.

The COVID-19 lockdown, came with a different set of concerns for class 12 students, whose board exams were postponed midway following the outbreak of coronavirus, putting on hold their future plans as well.

"Everyday I have been looking for news about the exams and about entrance exam dates. I feel unfortunate that this happened during the year I was supposed to take the big college leap. I don't want my future decisions to be shaped by this very year as what I opt to study now will remain with me lifelong," Pratyusha told PTI.

Ending some uncertainty for students, HRD Minister Ramesh Pokhriyal 'Nishank' on Friday announced that the pending class 10 and 12 board exams will be held from July 1 to 15. While class 12 exams will be conducted across the country, the class 10 exams are only pending in North East Delhi where they were affected due to the law and order situation.

"The anxiety doesn't end here, there is no date sheet yet. What will be the modalities of exams, how will we reach centres, what protocols have to be followed, there is no clarity on that. My friends and I keep calling our school teachers and also the CBSE helpline to seek some clarity," Bipin Kumar said.

Vaibhav Sharma, a class 12 student in Gurgaon said, "There is no clarity yet. I wanted to apply for DU, but now that the exams are taking place in July when will the results be declared, when will cut offs be announced. If I don't get a good college here, will I be able to travel to different cities for admission, nothing is known yet."

Similarly, for the students in northeast Delhi, the wait for the exams has become a "test of patience" as they were postponed first in the area due to law and order situation, and later due to the coronavirus outbreak, resulting in a four-month-long wait for the exams.

"It has become an endless wait and now I don't feel like studying too. Right from childhood, we are taught that board exams are too crucial and have to be focussed at least two years in advance. But now, it is a different picture altogether," Rani Kumari, a resident of Chandbagh said.

Universities and schools across the country have been closed and exams postponed since March 16 when the Centre announced a countrywide classroom shutdown as one of the measures to contain the COVID-19 outbreak.

Later, a nationwide lockdown was announced on March 24, which has now been extended till May 17.

The board was not able to conduct class 10 and 12 exams on eight examination days due to the coronavirus outbreak. Further, due to the law and order situation in North East Delhi, the board was not able to conduct exams on four examination days, while a very small number of students from and around this district were not able to appear in exams on six days.

The board had last month announced that it will only conduct pending exams in 29 subjects which are crucial for promotion and admission to higher educational institutions. The modalities of assessment for the subjects for which exams are not being conducted will be announced soon by the board.

The schedule has been decided in order to ensure that the board exams are completed before competitive examinations such as engineering entrance JEE-Mains, which is scheduled from July 18-23, and medical entrance exam NEET, which is scheduled on July 26.

The University Grants Commission (UGC) has issued guidelines to universities that new academic session for freshers will begin from September while for the existing students from August.

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News Network
May 11,2020

Panaji, May 11: Amid the COVID-19 outbreak, most of the people are more concerned about the health of their near and dear ones than their own well-being, says a study conducted by a leading business school in Goa.

People are now more conscious about any bodily changes, and even mild cold, cough and sneezing, it says.

The study, on public's reaction towards COVID-19 outbreak by gauging their psychological response in terms of anxiety and their coping behaviour, was conducted by the Goa Institute of Management's Dr Divya Singhal and Prof Padhmanabhan Vijayaraghavan.

It took into account inputs from 231 respondents residing in various parts of the country.

"Nearly 82.25 per cent of the respondents were more worried about the health of their loved ones than their own well-being," Singhal said.

"Majority of the respondents have become conscious of any bodily changes, sensations, a mild cold, cough, sneezing and experience concern, and attribute those changes to the symptoms of COVID-19," she said.

Besides, more than 50 per cent of the respondents said their social media usage has gone up as well as their time spent on watching movies and shows through online medium, the official said.

The respondents agreed that their technology usage to connect with friends and relatives has gone up, she said.

The study also indicated that a large group of respondents found it "depressing" to read forwarded messages on the deadly disease.

"An overwhelming majority of the respondentsagreed that they discourage unverified forwarded messages about COVID-19 on social media," says the study.

It also found that 41 per centof the respondents were not doing any physical activity, like yoga, during the lockown period, while another 19 per cent were not sure about engaging themselves in physical activities.

Besides, 57 per cent of the respondents were not engaged in any mind-calming practices like meditation, and 18 per cent were not sure about taking up meditative practices, the study said.

The respondents included 145 men and 86 women, aged 18 and above, with nearly 60 per cent of them residing in non- metro cities and rest from metros.

About 47.62 per cent of the respondents were employed in private or government sectors, and the remaining included students, retired persons and homemakers.

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Agencies
February 6,2020

Researchers have found the rates of lung cancer are higher in young women than men.

The study, published in the journal Pediatrics, examined lung cancer rates in young adults in 40 countries across five continents and uncovered a trend of higher lung cancer rates in women compared with men in recent years.

The emerging trend was widespread, affecting countries across varied geographic locations and income levels.

The changes appeared to be driven by a rising rate of adenocarcinoma lung cancer among women, said the study researchers from University of Calgary in Canada.

Lung cancer rates have been higher among men than women because men started smoking in large numbers earlier and smoked at higher rates; however, recent studies have reported converging lung cancer incidence rates between sexes.

Among men, age specific lung cancer incidence rates generally decreased in all countries, while in women the rates varied across countries with the trends in most countries stable or declining, albeit at a slower pace compared to those in men.

For the findings, lung and bronchial cancer cases between 30-64 age group from 1993-2012 were extracted from cancer incidence in five continents.

The study found the higher emerging rates of lung cancer in young women compared to young men.

According to the researchers, future studies are needed to identify reasons for the elevated incidence of lung cancer among young women.

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