Category Archives: Genetics

The evolutionary mystery of flying may finally be cracked by genetics – New Scientist

Finding out how flight evolved or animals moved onto land is all about a collision of palaeontology and genetics, argue two new books

By Graham Lawton

Phil Degginger/Alamy

Books

IN 1871, a now-obscure biologist called St George Jackson Mivart published On the Genesis of Species. As its title suggests, the book was a riposte to Darwins theory of natural selection, published in 1859. Mivart had been an avid Darwinian, but the more he thought about it, the stronger his doubts

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The evolutionary mystery of flying may finally be cracked by genetics - New Scientist

Tracing the Origin of Indonesian People Through Genetics – The Good Men Project

By Herawati Sudoyo, Eijkman Institute for Molecular Biology

To mark Wallacea Week, a series of public lectures and exhibition on the Wallacea region of Indonesia, The Conversation presents a series of analysis on biodiversity and history of science in Indonesia. This is the third and last article of the series.

In Indonesian society, people often use a dichotomy between pribumi or native and pendatang or migrants. Pribumi means the original settlers while pendatang are foreigners. This dichotomy often creates racism and tension between groups in the society.

However, a research on human genome found all Indonesians are migrants. Indonesian people are a mix of different genetic groups of Homo sapiens who travelled from Africa in waves spanning tens of thousands years via different routes to the archipelago.

I study the diversity of genetics of Indonesian people. I work with anthropologists, archaeologists, linguists, and computer scientists to reconstruct the history of settlement in the archipelago. In short, I try to learn who are the ancestors of Indonesian people through genetics.

Before our research, there was no available data about the genetics of humans in Indonesia within the worlds human genome research. Scientists have data about human migration through mainland Asia and Australia, but the data from the Indonesian archipelago were missing because they had never been investigated.

There are three genetic markers that can be used to study human migration.

First, the Y chromosome, a protein structure consisting of nucleid acid in sperm cells. Y chromosome inherits DNA from father to children.

Second, genetic materials in mitochondria, also called mitochondrial DNA, inherited by mothers to the children. Mitochondria is a structure in cells that transforms food intake into energy in the body.

Human genome researchers categorise humans into genetic populations called haplogroups by looking at the similarities in their Y chromosome or mitochondrial DNA, which are the specific motifs of both DNAs.

The third genetic marker is autosomal DNA, inherited from both parents.

My research colleagues and I in Eijkman Institute collected and analysed around 6,000 samples of DNA from different locations in Indonesia to look at the haplogroups of Indonesian people. We tested more than 3,700 people from 35 ethnic groups for their mitochondrial DNA, and almost 3,000 of them for their chromosome Y.

Using mitocondrial DNA, we found haplogroups M, F, Y2 and B in the western part of Indonesia. The people of these haplogroups are mostly speakers of Austronesia languages, spoken in Southeast Asia, Madagascar and Pacific Islands.

Meanwhile in the eastern part of Indonesia we found haplogroups Q and P. These two haplogroups are unique to people of Papua and Nusa Tenggara. People of haplogroup Q and P are non-Austronesian speakers.

Whats more interesting is Mentawai and Nias, the haplogroup of the people in those islands are grouped with the native people of Formosa, Austronesian speakers who travelled to the south around 5,000 years ago.

Through multidisciplinary research combining genetics research with archaeology and linguistics, we can discover that the ancestors of Indonesian people came in waves.

The history of ancestral migration started 72,000 years ago when a group of Homo sapiens or modern humans travelled south from the African continent to the Arabian peninsula towards India.

The descendants of this first wave of people arrived to what is now the Indonesian archipelago around 50,000 ago. At the time the Malay peninsula, Borneo and Java were still connected as one landmass called Sundaland. Descendants of this group continued to wander to Australia.

Signs that the Indonesian archipelago has been inhabited by modern humans can be seen through archaeological findings. In Sarawak, Malaysias territory of Borneo, scientists found a skull thats around 34,000 to 46,000 years old.

And in the caves of Maros, South Sulawesi, there are 40,000-year-old pre-historic rock arts.

The second migration, around 30,000 years ago, came from the area that is now Vietnam. The third migration is the arrival of Austronesian speakers from Formosa around 5,000 to 6,000 years ago.

Lastly, the spread of Hindu and the rise of the Indian empire between the 3rd to 13th century created a variety of haplogroups found in small frequencies in Bali, Java, Borneo, and Sumatra. There was also the spread of Islam from Arabia and the findings of haplogrup O-M7 which is a marker for people from China.

By collecting and analysing the genetics data of Indonesians, we can fill the gap of data about human migration between the Asian mainland and the Pacific Islands.

The genetics of Indonesian people are a mix between different groups of humans. Our genetics data shows that the Indonesian archipelago was once a centre of civilisation.

Our research also has provided us with basic information about mutations of specific diseases such as the inherited blood disease thalasemia. Thalasemia is the main genetic disease in Indonesia.

By having the data about the mutations, diagnosis can be targeted to ethnic groups where the mutations are most present. This will help doctors and patients deal with diseases and improve health care.

These investigations into genetics that reveal the population structure of Indonesian people, match with the research that found the clustering of human pathogens such as Hepatitis B or C as well as dengue. So, having genetic data can help us fight diseases more effectively.

How about autosomal DNA? This helps us predict the chances of someone to contract certain diseases. Its always better to prevent than to cure.

Herawati Sudoyo, Deputy for Fundamental Research of Eijkman Institute., Eijkman Institute for Molecular Biology

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Tracing the Origin of Indonesian People Through Genetics - The Good Men Project

Predictive Genetic Testing And Consumer/Wellness Genomics Market 2020 Status, Growth Rate by Applications, and Future Forecast 2025 |Illumina, BGI,…

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Predictive Genetic Testing And Consumer/Wellness Genomics Market 2020 Status, Growth Rate by Applications, and Future Forecast 2025 |Illumina, BGI,...

The First Genetic Map of the Cerebral Cortex – Technology Networks

The cerebral cortex is the relatively thin, folded, outer gray matter layer of the brain crucial for thinking, information processing, memory, and attention. Not much has been revealed about the genetic underpinnings that influence the size of the cortexs surface area and its thickness, both of which have previously been linked to various psychiatric traits, including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder (ADHD), and autism.Now, for the first time, more 360 scientists from 184 different institutions including UNC-Chapel Hill have contributed to a global effort to find more than 200 regions of the genome and more than 300 specific genetic variations that affect the structure of the cerebral cortex and likely play important roles in psychiatric and neurological conditions.

The study was led by co-senior authors Jason Stein, PhD, assistant professor in the Department of Genetics at the UNC School of Medicine; Sarah Medland, PhD, senior research fellow at the QIMR Berghofer Medical Research Institute in Australia; and Paul Thompson, PhD, associate director of the Mark and Mary Stevens Neuroimaging and Informatics Institute at the University of Southern California. Ten years ago, these scientists cofounded the ENIGMA Consortium, an international research network that has brought together hundreds of imaging genomics researchers to understand brain structure, function, and disease based on brain imaging and genetic data.

This study was only possible due to a huge scientific collaboration of more than 60 sites involved in MRI scanning and genotyping participants, Stein said. This study is the crown jewel of the ENIGMA Consortium, so far.

The researchers studied MRI scans and DNA from more than 50,000 people to identify 306 genetic variants that influence brain structure in order to shed light on how genetics contribute to differences in the cerebral cortex of individuals. Genetic variants or variations are simply the slight genetic differences that make us unique. Generally speaking, some variants contribute to differences such as hair color or blood type. Some are involved in diseases. Most of the millions of genetic variants, though, have no known significance. This is why pinpointing genetic variants associated with cortex size and structure is a big deal. Stein and colleagues consider their new genetic roadmap of the brain a sort of Rosetta stone that will help translate how some genes impact physical brain structure and neurological consequences for individuals.

Among the findings of the research:

Most of our previous understanding of genes affecting the brain are from model systems, like mice, Stein said. With mice, we can find genes, knock out genes, or over express genes to see how they influence the structure or function of the brain. But there are a couple of problems with this.One problem is, quite simply, a mouse is not a human. There are many human-specific features that scientists can only study in the human brain.

The genetic basis for a mouse is very different than the genetic basis for humans, Stein said, especially in in the noncoding regions of the genome.

Genes contain DNA, the basic human code that, when translated into action, creates proteins that do things, such as help your finger muscles type or your heart beat or your liver process toxins. But only about 3 percent of the human genome codes for proteins. The vast majority of the human genome is called the noncoding genome. Much of this region is not shared between mice and humans. This noncoding genome consists of tiny molecular switches that can modulate the expression of other genes. These switches dont directly alter the function of a protein, but they can affect the amounts of a protein that is expressed. Turns out, most genetic variants associated with psychiatric disorders are found in the noncoding region of the genome.

These findings can now be a resource for scientists to help answer important questions about the genetic influences on the brain and how they relate to numerous conditions.ReferenceGrasby et al. (2020) The genetic architecture of the human cerebral cortex. Science. DOI: https://doi.org/10.1126/science.aay6690

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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The First Genetic Map of the Cerebral Cortex - Technology Networks

Icelandic genetics company conducting mass testing for COVID-19 to provide data on the spread of the virus – WGN TV Chicago

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Kari Stefansson Neurologist, Decode Genetics Founder

Headquartered in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using our unique expertise and population resources, deCODE has discovered key genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer.

Find more information here

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Icelandic genetics company conducting mass testing for COVID-19 to provide data on the spread of the virus - WGN TV Chicago

Global scientific collaboration produces first genetic map of the cerebral cortex – News-Medical.net

The cerebral cortex is the relatively thin, folded, outer "gray matter" layer of the brain crucial for thinking, information processing, memory, and attention. Not much has been revealed about the genetic underpinnings that influence the size of the cortex's surface area and its thickness, both of which have previously been linked to various psychiatric traits, including schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder (ADHD), and autism.

Now, for the first time, more 360 scientists from 184 different institutions - including UNC-Chapel Hill - have contributed to a global effort to find more than 200 regions of the genome and more than 300 specific genetic variations that affect the structure of the cerebral cortex and likely play important roles in psychiatric and neurological conditions.

The study, published in Science, was led by co-senior authors Jason Stein, PhD, assistant professor in the Department of Genetics at the UNC School of Medicine; Sarah Medland, PhD, senior research fellow at the QIMR Berghofer Medical Research Institute in Australia; and Paul Thompson, PhD, associate director of the Mark and Mary Stevens Neuroimaging and Informatics Institute at the University of Southern California. Ten years ago, these scientists cofounded the ENIGMA Consortium, an international research network that has brought together hundreds of imaging genomics researchers to understand brain structure, function, and disease based on brain imaging and genetic data.

This study was only possible due to a huge scientific collaboration of more than 60 sites involved in MRI scanning and genotyping participants. This study is the crown jewel of the ENIGMA Consortium, so far."

Jason Stein, Ph.D., assistant professor, Department of Genetics, UNC School of Medicine

The researchers studied MRI scans and DNA from more than 50,000 people to identify 306 genetic variants that influence brain structure in order to shed light on how genetics contribute to differences in the cerebral cortex of individuals. Genetic variants or variations are simply the slight genetic differences that make us unique. Generally speaking, some variants contribute to differences such as hair color or blood type. Some are involved in diseases. Most of the millions of genetic variants, though, have no known significance. This is why pinpointing genetic variants associated with cortex size and structure is a big deal. Stein and colleagues consider their new genetic roadmap of the brain a sort of "Rosetta stone" that will help translate how some genes impact physical brain structure and neurological consequences for individuals.

Among the findings of the research published in Science:

One problem is, quite simply, a mouse is not a human. There are many human-specific features that scientists can only study in the human brain.

"The genetic basis for a mouse is very different than the genetic basis for humans," Stein said, "especially in in the noncoding regions of the genome."

Genes contain DNA, the basic human code that, when translated into action, creates proteins that "do" things, such as help your finger muscles type or your heart beat or your liver process toxins. But only about 3 percent of the human genome codes for proteins. The vast majority of the human genome is called the noncoding genome. Much of this region is not shared between mice and humans. This noncoding genome consists of tiny molecular switches that can modulate the expression of other genes. These switches don't directly alter the function of a protein, but they can affect the amounts of a protein that is expressed. Turns out, most genetic variants associated with psychiatric disorders are found in the noncoding region of the genome.

These findings can now be a resource for scientists to help answer important questions about the genetic influences on the brain and how they relate to numerous conditions.

Source:

Journal reference:

Grasby, K.L., et al. (2020) The genetic architecture of the human cerebral cortex. Science. doi.org/10.1126/science.aay6690.

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Global scientific collaboration produces first genetic map of the cerebral cortex - News-Medical.net

The Enemy Is no Longer Invisible, Greek Professor of Genetics Says – The National Herald

By ANA March 27, 2020

Aristotle University of Thessaloniki. (Photo by Eurokinissi/ Vasilis Ververidis)

ATHENS The rapid analysis and now the knowledge of the SARS-CoV-2 genome is helping us to find quicker ways to deal with it, said Zacharias Skouras, Professor of Genetics at the Aristotle University of Thessaloniki (AUTH).

In an interview with the Athens-Macedonian News Agency, he explained that the enemy is no longer invisible, because it is visible through the progress made under the microscope, the penetration of the human eye into parts so tiny that we can see its image, its phenotype, the means of cultivating and identifying it in different environments, and even more so, its genotype and the analysis of its genetic information.

As for the behaviour of SARS-CoV-2, he noted that it is the seventh coronavirus, and despite its recent appearance, it has been extensively studied. He observed that it is a smart virus as it is invasive and spreads, that is, it survives better because it is not extremely lethal.

Based on studies of human-infecting coronaviruses, both clinically and molecularly, he agreed with the scientific conclusion that the virus did not escape from a laboratory, it was not genetically modified and it is probably a product of nature.

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The Enemy Is no Longer Invisible, Greek Professor of Genetics Says - The National Herald

Bridging the gap study sequences Asian genomes to diversify genetic databases – University of Virginia The Cavalier Daily

Though the number of human genomes sequenced continues to rise rapidly since the completion of the Human Genome Project a scientific endeavor spanning multiple decades and countries aimed at detailing human DNA in 2003, less than 10 percent of those genomes to date correspond to individuals of Asian descent. The GenomeAsia 100K Project, a non-profit consortium, seeks to change this lack of knowledge surrounding a major portion of the worlds ethnicities. The conglomeration of researchers and private sector executives from around the world from Seoul, South Korea to the University plans to add 100,000 novel genomes from individuals of Asian ethnicity to new open-access databases.

Academic institutions and private sector companies came together in 2016 to launch the GenomeAsia 100K Project. While the research organization MedGenome and Nanyang Technological University in Singapore originally founded the non-profit consortium, representatives from other businesses and schools including Genentech, Macrogen and the University of California, San Francisco have joined the association.

Since genome sequencing can reveal the unique characteristics of each persons genetic material, it can help determine a persons ancestry and the propensity for certain medical conditions. According to GenomeAsia 100K, Asians constitute nearly half of the worlds population, and the distinct ethnicities and communities offer a relatively untapped repository of genetic diversity. The project hopes to provide new insights into inherited diseases as well as those caused by a combination of genetic and environmental factors.

Aakrosh Ratan, assistant professor of public health sciences and researcher for GenomeAsia 100K, explained that in particular, the information the initiative collects may help develop medical treatments based on peoples specific genetic makeup, instead of relying on traditional general treatments that may not target the unique root cause of each patients form of a disease.

The goal of precision medicine is to tailor treatment towards a persons genetic background, and that dream cannot be realized until you have the proper reference databases, Ratan said.

Mutations in humans DNA sequences lead to different copies of the same gene within a person and amongst ethnicities. These different versions of a gene can act as markers of diseases that are inherited or influenced by genetic makeup. For example, the disorder sickle cell anemia is caused by the change of a single point in the DNA sequence. When someone is born with copies of this particular gene from both parents contain the mutation, he or she will suffer from often debilitating pain resulting from red blood cells that cannot effectively transport oxygen.

Ratan explained that genome sequencing can highlight mutations in a persons DNA that may cause illnesses such as sickle cell anemia.

One of the ways we identify the mutations that drive a rare disease is by identifying the mutations and then prioritizing those mutations based on their prevalence in healthy populations, Ratan said. With the medical datasets we have compiled, we can actually improve such analyses for patients of Asian descent.

As of December 2019, the GenomeAsia 100K Project has completed the analysis of 1,739 genomes from 219 populations and 64 countries worldwide. Preliminary findings appeared that same month in the scientific journal Nature. The paper concluded that the sample provided a reasonable framework for sequencing practices and studying the history and health of Asian populations. Ratan and his lab at the University supervised the identification and contributed to the analysis of these genetic variants.

Once the 100,000 genomes have been collected and sequenced, the data will be publicly available as a controlled dataset. As a result, experts investigating topics from heart disease to human evolution can easily access the genome sequences.

One of the real gaps in human genetics studies of disease has been the underrepresentation of non-Europeans, Charles Farber, associate professor of public health sciences, said in an email to The Cavalier Daily. The work of the GenomeAsia 100K Consortium provided critical insight into the extent and nature of genome variation in individuals of Asian ancestry and will be critical in making disease genetic studies more inclusive of all global populations.

Ani Manichaikul, assistant professor of public health sciences in the Center for Public Health Genomics, expressed enthusiasm for the GenomeAsia 100K Project. She claimed that the additional genetic information could augment her research as part of the Multi-Ethnic Study of Atherosclerosis, a cardiovascular disease where fatty deposits accumulate and potentially block arteries. The study currently focuses on Caucasian, African American, Hispanic and Chinese American individuals.

The GenomeAsia project is very useful because there are some instances where particular genetic variants are only observed in particular genetic groups, Manichaikul said. Those markers can be unique to those sequenced through the project, which means we would not have necessarily have observed those particular variants otherwise.

Manichaikul also suggested that expanding existing repositories of hereditary statistics would improve methods of assigning people risk scores for diseases based on their DNA. The National Human Genome Research Institute describes polygenic risk score, which indicates a persons likelihood of certain diseases based on the presence of mutations known to be associated with a given disorder. Companies such as 23andMe have started to provide consumers with this metric, but without a comprehensive database of genomes from different populations, score reliability can decrease.

Since indicators of genetically-linked conditions often appear in certain alleles, or different versions of a gene, knowing whether one has a disease marker can help patients take preventative measures if need be. However, in the absence of comprehensive information on the range of disease markers that appear in different ethnicities, whole populations may lack the potential benefits of this burgeoning healthcare statistic.

The only way we can create risk prediction models that are accurate across populations is if we also have corresponding databases available with individuals that represent that diversity, Manichaikul said.

Following the findings in the preliminary study, GenomeAsia 100K Project collaborators will continue to sequence more genomes of Asian individuals. The hope is that, once researchers have access to the data, insights from 100,000 genomes will drive the development of new therapeutic strategies that will benefit people around the world.

I would like more researchers to have access to this data, Ratan said. This is a resource. Were working to establish these reference datasets, and we would definitely like them to be used.

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Bridging the gap study sequences Asian genomes to diversify genetic databases - University of Virginia The Cavalier Daily

Sex is a choice, regardless of genetics – Chicago Daily Herald

Says Louis Guagenti in his recent letter: "Being LGBT is not subjective; it's how the person is wired. They don't get to choose their sexual orientation any more than one gets to choose their eye color." If that's true, then it's also true that heterosexuals are hard wired and since sex has become a recreational activity for so many today, does this hard-wiring force everybody to engage in sex with as many others as possible?

Or is it possible that one must choose to do such things?

So, just as it is with heterosexuals, so it is with others. Whatever it is that either group does, they do it because they choose to do it. That means, regardless of "wiring," they can also choose not to do it, especially if it happens to be a threat to one's physical and/or emotional health.

Regarding abortion when rape is involved, well, that does produce a conundrum, doesn't it?

When the rape victim is a child and gets pregnant, concern for the girl is universal, but even in this case, the pro-death/pro-abort idea that a baby in the womb is not a baby plays out: if it's less than human, then where's the problem? But it IS a baby, a human being and it was through no fault of its own that it even exists, yet we in America decided with Roe-v-Wade that its very life is wholly subject to the whims of the mother carrying it.

There is even a push to allow a baby to die should it survive the abortion procedure. Fancy that: it is no longer a "part of the woman," it is no longer "her body." It is an individual by every definition of the word, yet its very life still depends on the whims of its mother.

John Babush

Big Rock

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Sex is a choice, regardless of genetics - Chicago Daily Herald