Genetic study – Genetic Science Services http://geneticscienceservices.com/ Fri, 16 Sep 2022 05:13:55 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://geneticscienceservices.com/wp-content/uploads/2021/10/icon-7.png Genetic study – Genetic Science Services http://geneticscienceservices.com/ 32 32 People with ME invited to take part in a major genetic study https://geneticscienceservices.com/people-with-me-invited-to-take-part-in-a-major-genetic-study/ Sun, 11 Sep 2022 23:01:00 +0000 https://geneticscienceservices.com/people-with-me-invited-to-take-part-in-a-major-genetic-study/ P People diagnosed with myalgic encephalomyelitis (ME) are invited to participate in the world’s largest genetic study of the disease. The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME. […]]]>
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People diagnosed with myalgic encephalomyelitis (ME) are invited to participate in the world’s largest genetic study of the disease.

The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME. , also known as chronic fatigue syndrome (CFS).

It is estimated that more than 250,000 people in the UK are affected by the disease, with symptoms such as pain, ‘brain fog’ and extreme exhaustion which cannot be improved by rest.

The causes of the disease are still unknown and to date there is no diagnostic test or effective treatment.

Testing the DNA in the saliva of 20,000 donated samples will make it possible to analyze whether the disease is partly genetic and, if so, to find its cause and effective treatments.

The study has also been expanded to include DNA analysis of another 5,000 people who were diagnosed with ME or CFS after having Covid-19.

We believe the results should help identify genes, biological molecules and cell types that may play a role in ME/CFS.

Along with the DNA research, an anonymous survey will provide insight into the experience of people with the disease.

The research team is led by Professor Chris Ponting.

He said: “This is the first significant DNA study on ME/CFS, and any differences we find from control samples will serve as important biological clues.

“Specifically, we believe the results should help identify genes, biological molecules and cell types that may play a role in ME/CFS.”

The university works alongside the charity Action for ME, the Forward ME alliance of UK charities and people with lived experience of the disease.

Sonya Chowdhury, Executive Director of Action for ME, said: “People with lived experience of ME/CFS are at the very heart of the DecodeME project and our patient and participant engagement group has worked closely with researchers on all aspects of the study.

“Their deep involvement has been so transformational that we firmly believe it sets a new standard for health research in this country.”

People with ME or CFS aged 16+ and based in the UK are invited to participate from home by registering on the DecodeME website from 12pm on Monday.

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People with myalgic encephalomyelitis will take part in the world’s largest genetic study https://geneticscienceservices.com/people-with-myalgic-encephalomyelitis-will-take-part-in-the-worlds-largest-genetic-study/ Sun, 11 Sep 2022 23:01:00 +0000 https://geneticscienceservices.com/people-with-myalgic-encephalomyelitis-will-take-part-in-the-worlds-largest-genetic-study/ The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME. , also known as chronic fatigue syndrome (CFS). It is estimated that more than 250,000 people in the UK are […]]]>

The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME. , also known as chronic fatigue syndrome (CFS). It is estimated that more than 250,000 people in the UK are affected by the disease, with symptoms such as pain, ‘brain fog’ and extreme exhaustion which cannot be improved by rest.

The causes of the disease are still unknown and to date there is no diagnostic test or effective treatment.

Testing the DNA in the saliva of 20,000 donated samples will make it possible to analyze whether the disease is partly genetic and, if so, to find its cause and effective treatments.

The study has also been expanded to include DNA analysis of another 5,000 people who were diagnosed with ME or CFS after having Covid-19.

Along with the DNA research, an anonymous survey will provide insight into the experience of people with the condition.

The research team is led by Professor Chris Ponting.

He said: “This is the first significant DNA study on ME/CFS, and any differences we find from control samples will serve as important biological clues.

“Specifically, we believe the results should help identify genes, biological molecules and cell types that may play a role in ME/CFS.”

The university works alongside the charity Action for ME, the Forward ME alliance of UK charities and people with lived experience of the disease.

Sonya Chowdhury, Executive Director of Action for ME, said: “People with lived experience of ME/CFS are at the very heart of the DecodeME project and our patient and participant engagement group has worked closely with researchers on all aspects of the study.

“Their deep involvement has been so transformational that we firmly believe it sets a new standard for health research in this country.”

People with ME or CFS aged 16+ and based in the UK are invited to participate from home by registering on the DecodeME website from 12pm on Monday.

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People with ME invited to take part in a major genetic study https://geneticscienceservices.com/people-with-me-invited-to-take-part-in-a-major-genetic-study-2/ Sun, 11 Sep 2022 23:01:00 +0000 https://geneticscienceservices.com/people-with-me-invited-to-take-part-in-a-major-genetic-study-2/ People who have been diagnosed with myalgic encephalomyelitis (ME) are invited to participate in the world’s largest genetic study of the disease. The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of […]]]>

People who have been diagnosed with myalgic encephalomyelitis (ME) are invited to participate in the world’s largest genetic study of the disease.

The study, named DecodeME and led by researchers from the University of Edinburgh’s MRC Human Genetics Unit, aims to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME. , also known as chronic fatigue syndrome (CFS).

It is estimated that more than 250,000 people in the UK are affected by the disease, with symptoms such as pain, ‘brain fog’ and extreme exhaustion which cannot be improved by rest.

The causes of the disease are still unknown and to date there is no diagnostic test or effective treatment.

Testing the DNA in the saliva of 20,000 donated samples will make it possible to analyze whether the disease is partly genetic and, if so, to find its cause and effective treatments.

The study has also been expanded to include DNA analysis of another 5,000 people who were diagnosed with ME or CFS after having Covid-19.



We believe the results should help identify genes, biological molecules and cell types that may play a role in ME/CFS.

Professor Chris Ponting

Along with the DNA research, an anonymous survey will provide insight into the experience of people with the condition.

The research team is led by Professor Chris Ponting.

He said: “This is the first significant DNA study on ME/CFS, and any differences we find from control samples will serve as important biological clues.

“Specifically, we believe the results should help identify genes, biological molecules and cell types that may play a role in ME/CFS.”

The university works alongside the charity Action for ME, the Forward ME alliance of UK charities and people with lived experience of the disease.

Sonya Chowdhury, Executive Director of Action for ME, said: “People with lived experience of ME/CFS are at the very heart of the DecodeME project and our patient and participant engagement group has worked closely with researchers on all aspects of the study.

“Their deep involvement has been so transformational that we firmly believe it sets a new standard for health research in this country.”

People with ME or CFS aged 16+ and based in the UK are invited to participate from home by registering on the DecodeME website from 12pm on Monday.

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Landmark genetic study aims to wipe common childhood cancer off the map https://geneticscienceservices.com/landmark-genetic-study-aims-to-wipe-common-childhood-cancer-off-the-map/ Fri, 02 Sep 2022 14:36:26 +0000 https://geneticscienceservices.com/landmark-genetic-study-aims-to-wipe-common-childhood-cancer-off-the-map/ Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Now, researchers at St. Jude Children’s Research Hospital have created a roadmap of genetic mutations found in patients with ALL. The study, published today in Natural genetics, is the first to offer an in-depth view of the genetics underlying each ALL subtype. This work aims […]]]>

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Now, researchers at St. Jude Children’s Research Hospital have created a roadmap of genetic mutations found in patients with ALL.

The study, published today in Natural genetics, is the first to offer an in-depth view of the genetics underlying each ALL subtype. This work aims to provide a functional guide for physicians and scientists, increasing our understanding of ALL and improving patient outcomes.

“In this study, we were able to comprehensively define the number and type of recurrently altered genes found in childhood ALL,” explained Dr. Charles Mullighan, corresponding co-author and medical director of St. Jude Biorepository. “Due to the breadth of the study, we were able to identify many newly implicated genes that have not been reported in leukemia or cancer at all, and show that they belong to several new cellular pathways.”

Gathering the largest cohort of pediatric ALL specimens

Most children diagnosed with ALL will survive, thanks to research breakthroughs around the world that are improving our understanding of the disease. Nevertheless, a small percentage of ALL patients do not respond to treatment. The researchers hypothesize that it might be possible to predict treatment outcomes by studying differences in the genetic makeup of cancers in these poor responders. This is evidenced by previous findings by the St. Jude team, which showed that a single specific genetic error was sufficient to significantly increase the risk of relapse in a type of leukemia that is normally considered low risk.

With better knowledge of how genetic differences influence responses to cancer treatment, doctors of the future will be able to sequence a patient’s cancer before treatment. Patients could then receive personalized treatments tailored to them, based on which ones will be effective for their particular genetic profile. However, before this becomes a reality, we need to know which mutations are responsible for the development of leukemia by creating a genetic “road map”.

In the current study, researchers collected samples from over 2,500 pediatric ALL patients, creating the largest such cohort to be published (previous studies collected only a few hundred samples or sometimes even fewer). ). Once all the samples were collected, they were analyzed using next-generation sequencing techniques such as whole genome, whole exome, and transcriptome sequencing.

What is Next Generation Sequencing?

Next-generation sequencing (NGS) is a laboratory technique that determines the sequence of the genetic code that makes up DNA or RNA. This data can then be used to determine which mutations are associated with different diseases or conditions.


Chairman of the St. Jude Department of Computational Biology and corresponding co-author Dr. Jinghui Zhang explained the importance of a study of this size: “The study demonstrates the power of data. If you don’t have a sufficient number of patient samples, you don’t have the statistical power to find drivers present at a low prevalence. Once we had the power, we found a subgroup of new pilots involved in the development of ALL.

What mutations cause ALL?

The researchers analyzed the sequencing results to find patterns in the mutations they found, using them to draw a map that shows how these cancers grow and what treatments might work against them. This data allowed them to identify the mutations that drive ALL progression – on average, each pediatric ALL sample had four of these motor mutations. A total of 376 significantly mutated driver genes were identified across all samples – and of these, 70 had never been linked to ALL, and many were linked to unexpected cellular processes.

Corresponding co-author Dr. Stephen P. Hunger summarized some of the findings of the study. “The results of this study clearly define many different genetic subtypes of ALL,” he explained. “Several of these genetic subtypes were previously unknown, and we also identified common secondary and tertiary mutations that lead to the development of ALL. We were able to identify new pathways to target with precision medicine treatments to potentially improve cure rates and reduce short- and long-term side effects of treatment.

The researchers were also able to establish a series of mutational events that occur in many cases of ALL. By examining the cells of so-called hyperdiploid B-cell ALL (which have at least five more chromosomes than normal), the team used computational techniques to establish a timeline of the various mutations and chromosome gains in order to have a insight into how leukemia develops. This timeline showed that in most of these cases, the cells experience a “big bang” of changes early in their cancerous development in which many chromosome gains occur at the same time. In a slightly more controversial finding, the results also indicated that abnormal cells then accumulate more mutations due to UV damage.

Data from this study has been made available for use by other scientists in the Childhood Cancer Data Portal on the St. Jude Cloud.

Reference: Brady SW, Roberts KG, Gu Z, et al. The genomic landscape of pediatric acute lymphoblastic leukemia. Nat. Broom. 2022:1-14. doi: 10.1038/s41588-022-01159-z

This article is a reworking of a press release published by St. Jude Children’s Research Hospital. Material has been edited for length and content.

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Landmark genetic study aims to wipe common childhood cancer off the map https://geneticscienceservices.com/landmark-genetic-study-aims-to-wipe-common-childhood-cancer-off-the-map-2/ Fri, 02 Sep 2022 14:36:26 +0000 https://geneticscienceservices.com/landmark-genetic-study-aims-to-wipe-common-childhood-cancer-off-the-map-2/ Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Now, researchers at St. Jude Children’s Research Hospital have created a roadmap of genetic mutations found in patients with ALL. The study, published today in Natural genetics, is the first to offer an in-depth view of the genetics underlying each ALL subtype. This work aims […]]]>

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Now, researchers at St. Jude Children’s Research Hospital have created a roadmap of genetic mutations found in patients with ALL.

The study, published today in Natural genetics, is the first to offer an in-depth view of the genetics underlying each ALL subtype. This work aims to provide a functional guide for physicians and scientists, increasing our understanding of ALL and improving patient outcomes.

“In this study, we were able to comprehensively define the number and type of recurrently altered genes found in childhood ALL,” explained Dr. Charles Mullighan, corresponding co-author and medical director of St. Jude Biorepository. “Due to the breadth of the study, we were able to identify many newly implicated genes that have not been reported in leukemia or cancer at all, and show that they belong to several new cellular pathways.”

Gathering the largest cohort of pediatric ALL specimens

Most children diagnosed with ALL will survive, thanks to research breakthroughs around the world that are improving our understanding of the disease. Nevertheless, a small percentage of ALL patients do not respond to treatment. The researchers hypothesize that it might be possible to predict treatment outcomes by studying differences in the genetic makeup of cancers in these poor responders. This is evidenced by previous findings by the St. Jude team, which showed that a single specific genetic error was sufficient to significantly increase the risk of relapse in a type of leukemia that is normally considered low risk.

With better knowledge of how genetic differences influence responses to cancer treatment, doctors of the future will be able to sequence a patient’s cancer before treatment. Patients could then receive personalized treatments tailored to them, based on which ones will be effective for their particular genetic profile. However, before this becomes a reality, we need to know which mutations are responsible for the development of leukemia by creating a genetic “road map”.

In the current study, researchers collected samples from over 2,500 pediatric ALL patients, creating the largest such cohort to be published (previous studies collected only a few hundred samples or sometimes even fewer). ). Once all the samples were collected, they were analyzed using next-generation sequencing techniques such as whole genome, whole exome, and transcriptome sequencing.

What is Next Generation Sequencing?

Next-generation sequencing (NGS) is a laboratory technique that determines the sequence of the genetic code that makes up DNA or RNA. This data can then be used to determine which mutations are associated with different diseases or conditions.


St. Jude’s Department of Computational Biology Chair and corresponding co-author Dr. Jinghui Zhang explained the importance of a study of this size: “The study demonstrates the power of data. If you don’t have a sufficient number of patient samples, you don’t have the statistical power to find drivers present at a low prevalence. Once we had the power, we found a subgroup of new pilots involved in the development of ALL.

What mutations cause ALL?

The researchers analyzed the sequencing results to find patterns in the mutations they found, using them to draw a map that shows how these cancers grow and what treatments might work against them. This data allowed them to identify the mutations that drive ALL progression – on average, each pediatric ALL sample had four of these motor mutations. A total of 376 significantly mutated driver genes were identified across all samples – and of these, 70 had never been linked to ALL, and many were linked to unexpected cellular processes.

Corresponding co-author Dr. Stephen P. Hunger summarized some of the findings of the study. “The results of this study clearly define many different genetic subtypes of ALL,” he explained. “Several of these genetic subtypes were previously unknown, and we also identified common secondary and tertiary mutations that lead to the development of ALL. We were able to identify new pathways to target with precision medicine treatments to potentially improve cure rates and reduce short- and long-term side effects of treatment.

The researchers were also able to establish a series of mutational events that occur in many cases of ALL. By examining the cells of so-called hyperdiploid B-cell ALL (which have at least five more chromosomes than normal), the team used computational techniques to establish a timeline of the various mutations and chromosome gains in order to have a insight into how leukemia develops. This timeline showed that in most of these cases, cells experience a “big bang” of changes early in their cancerous development in which many chromosomal gains occur at the same time. In a slightly more controversial finding, the results also indicated that abnormal cells then accumulate more mutations due to UV damage.

Data from this study has been made available for use by other scientists in the Childhood Cancer Data Portal on the St. Jude Cloud.

Reference: Brady SW, Roberts KG, Gu Z, et al. The genomic landscape of pediatric acute lymphoblastic leukemia. Nat. Broom. 2022:1-14. doi: 10.1038/s41588-022-01159-z

This article is a reworking of a press release published by St. Jude Children’s Research Hospital. Material has been edited for length and content.

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Genetic study of immortal jellyfish may help explain its longevity https://geneticscienceservices.com/genetic-study-of-immortal-jellyfish-may-help-explain-its-longevity/ Tue, 30 Aug 2022 07:00:00 +0000 https://geneticscienceservices.com/genetic-study-of-immortal-jellyfish-may-help-explain-its-longevity/ Juvenile Turritopsis dohrnii jellyfish collected from polyps in Santa Caterina, Nardò, Italy. Credit: Maria Pascual-Torner A team of researchers from the University of Oviedo in Spain report findings that could explain how the jellyfish Turritopsis dohrnii is able to live, at least in theory, forever. In their article published in Proceedings of the National Academy […]]]>

Juvenile Turritopsis dohrnii jellyfish collected from polyps in Santa Caterina, Nardò, Italy. Credit: Maria Pascual-Torner

A team of researchers from the University of Oviedo in Spain report findings that could explain how the jellyfish Turritopsis dohrnii is able to live, at least in theory, forever. In their article published in Proceedings of the National Academy of Sciencesthe group describes sequencing the genome of the jellyfish and a deadly close relative to see if they could spot any relevant differences.

Previous research has shown that T. dohrnii begins life as a larva drifting in the sea. At some point they attach themselves to the seabed and soon after begin to germinate as polyps. Then they repeatedly clone themselves to form a colony. Once mature, the colony then begins to produce mature jellyfish. Most other jellyfish reproduce in the same way, but their story ends there: if the colony gets into trouble, it can die. But when T. dohrnii has problems, things are different. One of the jellyfish can turn into a cyst, similar to its original polyp, and stick to the seabed in a new location and start the whole cycle all over again. Because it reproduces by cloning, the creature never actually dies – a version of itself lives on, perhaps indefinitely.

In this new effort, the researchers wanted to know how the jellyfish is able to recycle itself. To find out, they captured samples and performed whole-genome sequencing. Once they had the whole genome, they did the same for a very close relative of T. dohrnii, Turritopsis rubra, which is not immortal. Then they looked for the differences in the genomes that allowed one to live forever while the other perished when problems arose.

Genetic study of immortal jellyfish may help explain its longevity

Polyp of Turritopsis dohrnii from a colony spawned by a single rejuvenated jellyfish. Credit: Maria Pascual-Torner

The researchers found that T. dohrnii had twice the number of genes associated with gene repair and protection than T. rubra. And he also had mutations that delayed cell division and stopped telomeres from breaking down. The researchers also noted that during jelly’s metamorphosis period, some development-related genes reverted to the state when jelly was still just a polyp.



More information:
Maria Pascual-Torner et al, Comparative genomics of mortal and immortal cnidarians reveals new keys behind rejuvenation, Proceedings of the National Academy of Sciences (2022). DOI: 10.1073/pnas.2118763119

© 2022 Science X Network

Quote: Genetic study of immortal jellyfish may help explain its longevity (2022, August 30) Retrieved September 8, 2022, from https://phys.org/news/2022-08-genetic-immortal-jellyfish-longevity.html

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Genetic study highlights ‘central role’ of complement pathway in SLE, pSS https://geneticscienceservices.com/genetic-study-highlights-central-role-of-complement-pathway-in-sle-pss/ Tue, 30 Aug 2022 07:00:00 +0000 https://geneticscienceservices.com/genetic-study-highlights-central-role-of-complement-pathway-in-sle-pss/ medwireNews: A combination of partial impairments affecting C2 and C4A Classical complement pathway genes may represent a risk factor for the development of systemic lupus erythematosus (SLE) or primary Sjögren’s syndrome (PSS), according to research by Lars Rönnblom (Uppsala University, Sweden) and his crew. These findings “underscore the central role of the complement system in […]]]>

medwireNews: A combination of partial impairments affecting C2 and C4A Classical complement pathway genes may represent a risk factor for the development of systemic lupus erythematosus (SLE) or primary Sjögren’s syndrome (PSS), according to research by Lars Rönnblom (Uppsala University, Sweden) and his crew.

These findings “underscore the central role of the complement system in the pathogenesis of both diseases,” the researchers write in Arthritis and rheumatology.

The study involved 958 Scandinavian patients with SLE, 911 with pSS and 2,262 controls without these conditions, all of whom underwent DNA sequencing to assess the presence of heterozygotes. C2 impairment due to a deletion of 28 base pairs (rs9332736) and C4A copy number variations.

Rönnblom and colleagues report that 3.3% of patients in the SLE and pSS groups were heterozygous. C2 deficiency, compared to only 1.9% of controls. This translated into a 1.75-fold increased risk of SLE and a 1.72-fold increased risk of pSS associated with the heterozygous presence of this deletion.

The C4A copy number ranged from zero to five in the entire study population, but all heterozygous individuals C2 deficiency ranged between one and three copies.

When the combined effect of these deficiencies was assessed, researchers found that people who were both heterozygous C2 deficiency and a C4A copy number one had “significantly increased risk of SLE and pSS” compared to individuals with wild type C2 and one C4A copy number two, at an odds ratio of 10.2 for LES and 13.0 for pSS. They also note that there was a tendency for interaction between heterozygotes C2 deficiency and C4A number of copies, but without reaching statistical significance.

“These results show that partial deficiencies affecting multiple classical complement pathway genes can significantly increase disease risk when present in combination,” note Rönnblom et al.

The study authors also demonstrated that having both genetic deficiencies was associated with a younger age at diagnosis. Specifically, among patients with SLE, those with heterozygotes C2 deficiency and a C4A copy number of ones were diagnosed a median of 7 years earlier than wild-type ones C2while the corresponding difference among pSS patients was 12 years.

Conversely, heterozygous C2 deficiency was not associated with age at diagnosis in patients with two copies of C4Awhich, according to the team, “is consistent with the observation that heterozygotes C2 only deficiency is a genetic risk factor for SLE and pSS when combined with a C4A copy number of 1.”

The stories are provided by medwireNews, which is an independent medical news service provided by Springer Healthcare Ltd. © 2022 Springer Healthcare Ltd, part of the Springer Nature Group

This independent reporting was supported by a scholarship from L’Institut Servier, Suresnes, France.

Rheumatol arthritis 2022; doi:10.1002/art.42270

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Extensive genetic study reveals insights into migration patterns and language development https://geneticscienceservices.com/extensive-genetic-study-reveals-insights-into-migration-patterns-and-language-development/ Sun, 28 Aug 2022 22:17:22 +0000 https://geneticscienceservices.com/extensive-genetic-study-reveals-insights-into-migration-patterns-and-language-development/ Main view of the Karashamb Necropolis from the Bronze Age. The study focuses on 26 Late Bronze Age and Early Iron Age individuals from this site. Credit: Pavel Avetsiyan, Varduhi Extensive paleogenetic study reveals insights into migration patterns, agricultural expansion, and language development from the Caucasus over western Asia and southern Europe from the early […]]]>

Main view of the Karashamb Necropolis from the Bronze Age. The study focuses on 26 Late Bronze Age and Early Iron Age individuals from this site. Credit: Pavel Avetsiyan, Varduhi

Extensive paleogenetic study reveals insights into migration patterns, agricultural expansion, and language development from the Caucasus over western Asia and southern Europe from the early Copper Age until at the end of the Middle Ages.

In a trio of scientific papers, published simultaneously in the journal Science, the researchers report a massive genome-wide sequencing effort of 727 distinct ancient individuals with which it was possible to test archaeological, genetic and linguistic hypotheses of long time. They present a systematic picture of the interrelated histories of the peoples of the Southern Arc region, from the origins of agriculture to the late Middle Ages. The scientists include Ron Pinhasi from the Department of Evolutionary Anthropology and Human Evolution and Archaeological Sciences (HEAS) at the University of Vienna and Songül Alpaslan-Roodenberg from the University of Vienna and Harvard University, Iosif Lazaridis and David Reich of Harvard University, along with 202 co-authors.

In the first article, the international research team investigated the homeland and spread of Anatolian and Indo-European languages. The genetic results indicate that the homeland of the Indo-Anatolian language family was in Western Asia, with only secondary dispersals of non-Anatolian Indo-Europeans from the Eurasian steppe. In the first stage, around 7,000–5,000 years ago, people of Caucasian ancestry moved west into Anatolia and north into the steppe. Some of these people may have spoken ancestral forms of Anatolian and Indo-European languages.

All spoken Indo-European languages ​​(e.g., Greek, Armenian, and Sanskrit) can be traced back to the pastoralists of the Yamnaya steppe, with an ancestry of Caucasian hunter-gatherers and Eastern hunter-gatherers, who initiated a chain of migrations across Eurasia around 5,000 years ago. Their expansions south into the Balkans and Greece and east through the Caucasus into Armenia left a mark in the DNA of the Bronze Age peoples of the region.

As they expanded, the descendants of the Yamnaya herders mixed differently with the local populations. The emergence of Greek, Paleo-Balkan, and Albanian (Indo-European) languages ​​in Southeast Europe and the Armenian language in West Asia, formed by Indo-European speaking migrants from the steppe interacting with the local population, and can be traced through different forms of DNA evidence. In southeastern Europe, the Yamnaya impact was profound, and people of virtually full Yamnaya ancestry arrived just after the Yamnaya migrations began.

Areni 1 Cave Trench 1

Areni 1 Cave Trench 1, Chalcolithic period, late 5th millennium BC. The jars contained food offerings and three of them each had a secondary burial of a child who was included in the study and their genomes indicate the early appearance of Eastern hunter-gatherer ancestry in West Asia . Credit: Boris Gasparian

Some of the most remarkable findings are in the central Southern Arc region of Anatolia, where large-scale data paints a rich picture of change – and lack of change – over time.

The results reveal that unlike the Balkans and the Caucasus, Anatolia has hardly been impacted by Yamnaya migrations. No connection with the steppe can be made for speakers of Anatolian languages ​​(e.g. Hittite, Luwian) due to the lack of Eastern hunter-gatherer ancestry in Anatolia, different from all other regions where Indo- Europeans were spoken.

In contrast to Anatolia’s surprising impermeability to steppe migrations, the southern Caucasus has been affected on several occasions, including before the Yamnaya migrations. “I did not expect to find that the Chalcolithic Areni 1 individuals, which were recovered 15 years ago in the excavations I co-directed, would draw gene flow ancestors from the north to parts of the south. of the Caucasus more than 1,000 years before the expansion of the Yamnaya, and that this northern influence would disappear in the region before reappearing a few millennia later.This shows that there is much more to discover thanks to new excavations and fieldwork in the eastern parts of West Asia,” says Ron Pinhasi.

“Anatolia was home to diverse populations from both local hunter-gatherers and eastern populations from the Caucasus, Mesopotamia and the Levant,” says Songül Alpaslan-Roodenberg. “The people of the Marmara region and southeastern Anatolia, the Black Sea and the Aegean region all had variations of the same types of ancestry,” continues Alpaslan-Roodenberg.

The first agricultural societies and their interactions

The second article seeks to understand how the world’s first Neolithic populations formed around 12,000 years ago. “The genetic results support the scenario of a network of pan-regional contacts between early farming communities. They also provide new evidence that the Neolithic transition was a complex process that occurred not just in one central region, but across Anatolia and the Near East,” says Ron Pinhasi.

It provides the first ancient DNA data for pre-potter Neolithic farmers on the Tigris side of northern Mesopotamia – both in eastern Turkey and northern Iraq – a region key to the origins of farming. It also presents the first ancient DNA of the pre-pottery farmers of the island of Cyprus, which witnessed the first maritime expansion of the eastern Mediterranean farmers. In addition, it presents new data on early Neolithic farmers in northwestern Zagros, as well as the first data on Neolithic Armenia. By filling these gaps, the authors were able to study the genetic history of these societies for which archaeological research has documented complex economic and cultural interactions but has not been able to trace mating systems and interactions that do not leave traces. visible materials. The results reveal a mixture of pre-Neolithic sources related to hunter-gatherers from Anatolia, the Caucasus and the Levant. The study also shows that these early agricultural cultures formed a continuum of ancestry reflecting the geography of West Asia. Moreover, the results trace at least two migration pulses from the heart of the Fertile Crescent to the first farmers in Anatolia.

The historical period

The third article shows how the polities of the ancient Mediterranean world retained contrasts in ancestry since the Bronze Age, but were linked by migration. The results reveal that the ancestry of people who lived around Rome during the Imperial period was nearly identical to that of Roman/Byzantine individuals from Anatolia in their mean and pattern of variation, while Italians before the Imperial period had a very different distribution. This indicates that the Roman Empire, both in its short-lived western part and in the longer-lived eastern part centered on Anatolia, had a diverse but similar population presumably drawn to a large extent from pre-imperial sources Anatolian.

“These results are truly surprising because in a scientific paper that I co-edited in 2019, on the genetic ancestry of individuals from ancient Rome, we found a cosmopolitan pattern that we thought was unique to Rome. We see now that other parts of the Roman Empire were as cosmopolitan as Rome itself,” explains Ron Pinhasi.

References:

  1. “The Genetic History of the Southern Arc: A Bridge Between Western Asia and Europe” by Iosif Lazaridis, Songül Alpaslan-Roodenberg, Ayse Acar, Aysen Açikkol, Anagnostis Agelarakis, Levon Aghikyan, Ugur Akyüz, Desislava Andreeva, Gojko Andrijaševic, Dragana Antonovic, Ian Armit, Alper Atmaca, Pavel Avetisyan, Ahmet Ihsan Aytek, Krum Bacvarov, Ruben Badalyan, Stefan Bakardzhiev, Jacqueline Balen, Lorenc Bejko, Rebecca Bernardos, Andreas Bertsatos, Hanifi Biber, Ahmet Bilir, Mario Bodružic, Michelle Bonogofsky, Clive Bonsall, Dušan Boric, Nikola Borovinic, Guillermo Bravo Morante, Katharina Buttinger, Kim Callan, Francesca Candilio, Mario Caric, Olivia Cheronet, Stefan Chohadzhiev, Maria-Eleni Chovalopoulou, Stella Chryssoulaki, Ion Ciobanu, Natalija Condic, Mihai Constantinescu, Emanuela Cristiani, Brendan J. Culleton, Elizabeth Curtis, Jack Davis, Tatiana I. Demcenco, Valentin Dergachev, Zafer Derin, Sylvia Deskaj, Seda Devejyan, Vojislav Djordjevic, Kellie Sara Duffett Carlson, L aurie R. Eccles, Nedko Elenski, Atilla Engin, Nihat Erdogan, Sabiha Erir-Pazarci, Daniel M. Fernandes, Matthew Ferry, Suzanne Freilich, Alin Frînculeasa, Michael L. Galaty, Beatriz Gamarra, Boris Gasparyan, Bisserka Gaydarska, Elif Genç, Timur Gültekin, Serkan Gündüz, Tamás Hajdu, Volker Heyd, Suren Hobosyan, Nelli Hovhannisyan, Iliya Iliev, Lora Iliev, Stanislav Iliev, Ilkay Ivgin, Ivor Jankovic, Lence Jovanova, Panagiotis Karkanas, Berna Kavaz-Kindigili, Esra Hilal Kaya, Denise Keating , Douglas J Kennett, Seda Deniz Kesici, Anahit Khudaverdyan, Krisztián Kiss, Sinan Kiliç, Paul Klostermann, Sinem Kostak Boca Negra Valdes, Saša Kovacevic, Marta Krenz-Niedbala, Maja Krznaric Škrivanko, Rovena Kurti, Pasko Kuzman, Ann Marie Lawson, Catalin Lazar, Krassimir Leshtakov, Thomas E. Levy, Ioannis Liritzis, Kirsi O. Lorentz, Sylwia Lukasik, Matthew Mah, Swapan Mallick, Kirsten Mandl, Kristine Martirosyan-Olshansky, Roger Matthews, Wendy Matthews, Kathleen McSweeney, Varduhi Melikyan, Adam Micc o, Megan Michel, Lidija Milašinovic, Alissa Mittnik, Janet M. Monge, Georgi Nekhrizov, Rebecca Nicholls, Alexey G. Nikitin, Vassil Nikolov, Mario Novak, Iñigo Olalde, Jonas Oppenheimer, Anna Osterholtz, Celal Özdemir, Kadir Toykan Özdogan, Nurettin Öztürk, Nikos Papadimitriou, Niki Papakonstantinou, Anastasia Papathanasiou, Lujana Paraman, Evgeny G. Paskary, Nick Patterson, Ilian Petrakiev, Levon Petrosyan, Vanya Petrova, Anna Philippa-Touchais, Ashot Piliposyan, Nada Pocuca Kuzman, Hrvoje Potrebica, Bianca Preda-Balanica , Zrinka Premužic, T. Douglas Price, Lijun Qiu, Siniša Radovic, Kamal Raeuf Aziz, Petra Rajic Šikanjic, Kamal Rasheed Raheem, Sergei Razumov, Amy Richardson, Jacob Roodenberg, Rudenc Ruka, Victoria Russeva, Mustafa Sahin, Aysegül Sarbak, Emre Savas , Constanze Schattke, Lynne Schepartz, Tayfun Selçuk, Ayla Sevim-Erol, Michel Shamoon-Pour, Henry M. Shephard, Athanasios Sideris, Angela Simalcsik, Hakob Simonyan, Vitalij Sinika, Kendra Sirak, Ghenadie Sirbu, Mario Šlaus, Andrei So ficaru, Bilal Sögüt, Arkadiusz Soltysiak, Çilem Sönmez-Sözer, Maria Stathi, Martin Steskal, Kristin Stewardson, Sharon Stocker, Fadime Suata-Alpaslan, Alexander Suvorov, Anna Szécsényi-Nagy, Tamás Szeniczey, Nikolai Telnov, Strahil Temov, Nadezhda Todorova, Ulsi Tota, Gilles Touchais, Sevi Triantaphyllou, Atila Türker, Marina Ugarkovic, Todor Valchev, Fanica Veljanovska, Zlatko Videvski, Cristian Virag, Anna Wagner, Sam Walsh, Piotr Wlodarczak, J. Noah Workman, Aram Yardumian, Evgenii Yarovoy, Alper Yener Yavuz, Hakan Yilmaz, Fatma Zalzala, Anna Zettl, Zhao Zhang, Rafet Çavusoglu, Nadin Rohland, Ron Pinhasi and David Reich, August 26, 2022, Science.
    DOI: 10.1126/science.abm4247
  2. “A Genetic Probe into the Ancient and Medieval History of Southern Europe and Western Asia” by David Reich, et al., August 25, 2022, Science.
    DOI: 10.1126/science.abq0755
  3. “Ancient Mesopotamian DNA Suggests Distinct Pre-Pottery and Pottery Neolithic Migrations in Anatolia” by David Reich, et al., August 25, 2022, Science.
    DOI: 10.1126/science.abq0762
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Extensive genetic study of ancient Eurasians reveals thousands of years of history https://geneticscienceservices.com/extensive-genetic-study-of-ancient-eurasians-reveals-thousands-of-years-of-history/ Fri, 26 Aug 2022 18:00:00 +0000 https://geneticscienceservices.com/extensive-genetic-study-of-ancient-eurasians-reveals-thousands-of-years-of-history/ The Sumerian Temple of the Great Ziggurat in present-day Iraq.Photo: Asad NIAZI / AFP (Getty Images) Three new scientific papers provide a fascinating and comprehensive analysis of the genomes of 777 humans who lived from the Neolithic period (around 10,000 years ago) to the Ottoman period (around 1700 CE). Overall, the research adds nuance to […]]]>

A woman approaches a large Sumerian ziggurat.

The Sumerian Temple of the Great Ziggurat in present-day Iraq.
Photo: Asad NIAZI / AFP (Getty Images)

Three new scientific papers provide a fascinating and comprehensive analysis of the genomes of 777 humans who lived from the Neolithic period (around 10,000 years ago) to the Ottoman period (around 1700 CE). Overall, the research adds nuance to the story of human dispersal and connection since the dawn of civilization.

Ancient DNA for research came from sources representing a diversity of people over time. Some people were elite in their time: one sample came from the tomb of a seemingly wealthy young man who died in Minoan Crete, nicknamed the Warrior Griffon. Another came from Amesbury Archer, another wealthy man who was buried in Wessex, near Stonehenge, around 4,300 years ago. Twenty-six people buried in an Armenian necropolis during the Late Bronze Age and Early Iron were included, while many others came from farming populations in western Eurasia.

The analysis – conducted by a large interdisciplinary team of more than 200 researchers, including geneticists and genomics, archaeologists and human evolutionary biologists – clarified the migrations of some ancient human populations and how groups of people at across Eurasia interacted. Their research is published in the journal Science.

“We believe this data will be useful on its own, as it describes in detail the broad picture of the Eastern Mediterranean over time. Other researchers can use our data to infer the ancestry of migrants elsewhere,” Iosif Lazaridis, a Harvard University geneticist and lead author of the research, said in an email to Gizmodo. “The map of past migrations, both massive and isolated individuals, is getting clearer!”

The research includes three studies. The first study describes 10,000 years of genomic history in the Southern Arc, a region that can generally be described as westernmost Asia and southeastern Europe. The Southern Arc is important because it is where some of the first agricultural cultures emerged, as well as the first pottery cultures. The region (especially the fertile crescent, which is found in the Southern Arc) is often considered the “cradle of civilization”. How best to refer to the region, however, is debatable.

“The naming of the Southern Arc suggests a map projection centered on the western tip of Eurasia rather than the Anatolian Peninsula – a more intuitive geographic center of the search area,” wrote Benjamin Arbuckle and Zoe Schwandt, anthropological archaeologists at UNC-Chapel Hill. who were not affiliated with the recent works, in an accompaniment Insights Article. “Furthermore, in terms of scale, genome-based narratives often project a high-altitude view of history, mostly devoid of individuals though derived from its most personal components.”

“With this approach, history is made through vague processes of migration and admixture, but the social mechanisms remain unexplored,” Arbuckle and Schwandt added.

Stone-covered graves in Armenia are visible in these aerial images.

One of the main conclusions of the first article was that former speakers of Indo-European languages are related to the Yamnaya culture, a group of steppe herders who lived north of the Black and Caspian seas. Based on the genetic variation among the hundreds of ancient individuals whose DNA was sequenced by the team, the Yamnaya culture spread south of the Southern Arc.

“By comparing the Anatolian samples with their neighbors, we can see that the steppe influence did not reach Anatolia,” Lazaridis said. “We hypothesize that speakers of Anatolian languages ​​(such as Hittite and Luwian) came from the east and not from the steppe; the steppe was only responsible for the Indo-European languages, that is, the linguistic ancestors of Greek, Armenian, Sanskrit, English, etc.

The second paper introduced the first sequenced ancient DNA (aDNA) from the pre-Pottery Neolithic culture in Mesopotamia (what is now southeastern Turkey and northern Iraq), Cyprus and northwestern Iran . Work has also identified at least two human scatters from the Fertile Crescent in Anatolia.

“The genetic results support the scenario of a network of pan-regional contacts between early farming communities,” said Ron Pinhasi, a biological anthropologist specializing in ancient DNA at the University of Vienna and co-author of the work, in a university Release. “They also provide new evidence that the Neolithic transition was a complex process that occurred not just in one central region, but across Anatolia and the Near East.”

The third job probed the ancestral connections of individuals from southern Europe and western Asia; some particular findings were that the Greek elites of Mycenae were genetically similar to the general population, and that there was not much admixture between the inhabitants of eastern Turkey and southern Armenia (then Urartian ) with steppe populations.

“Ancient source populations are highly differentiated from each other, and the authors find over the past 10,000 years a reduction in this differentiation as populations carrying these ancestries mix (“homogenization”),” said said Mohamed Almarri, a geneticist at England’s Sanger Institute who was not affiliated with the research, in an email to Gizmodo.

“However, this process was not uniform, and for me, this is one of the main strengths of the articles,” added Almarri. “Comparing the proportions of sources over time and space in their samples, they find differences in many places, raising questions about why these patterns evolved.”

The remains of the ancient Greek city of Akrotiri.

The archaeological site of Akrotiri, once a Minoan city in Santorini.
Photo: LOUISA GOULIAMAKI/AFP (Getty Images)

The third work also revealed that the inhabitants of ancient Anatolia remained genetically distinct from other populations throughout the Byzantine period and represented “the demographic core of much of the Roman Empire”, as the article.

“[The researchers] have produced an astonishing dataset, unimaginable in magnitude just a decade ago,” Arbuckle and Schwandt wrote. “In the future, the growing body of ancient genomic data will continue to transform views of human history. This work can be particularly effective if scholars recognize their lack of neutrality and embrace their role in constructing narratives while allowing room for diverse perspectives that shed light on people and places whose history is less well known.

As aDNA sequencing methods improve, scientists will be able to extract more nuances from human scattering and mixing over time. Our history – where we all come from and the related question of who we are – can be stated at the base pair level.

After: Footprints suggest humans migrated deep into North America earlier than thought

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Can we prevent the heart from aging? This landmark genetic study is a start https://geneticscienceservices.com/can-we-prevent-the-heart-from-aging-this-landmark-genetic-study-is-a-start/ Tue, 23 Aug 2022 07:00:26 +0000 https://geneticscienceservices.com/can-we-prevent-the-heart-from-aging-this-landmark-genetic-study-is-a-start/ Hearts are not made to be broken. But with age, it happens. Even with a healthy diet and exercise, as our age slowly increases, the risk of clogged arteries, fragile blood vessels, and ultimately heart failure also increases. Why? Scientists have long sought to unravel the mystery of how aging is linked to an increased […]]]>

Hearts are not made to be broken. But with age, it happens. Even with a healthy diet and exercise, as our age slowly increases, the risk of clogged arteries, fragile blood vessels, and ultimately heart failure also increases.

Why?

Scientists have long sought to unravel the mystery of how aging is linked to an increased risk of heart disease, a predominant killer of our time. It’s a difficult problem: many biological aspects, ranging from nature to diet, can subtly influence heart health. To unravel the mystery, some experiments spanned more than half a century and involved hundreds of thousands of people.

The good news? We have clues. With age, heart cells drastically change their function, eventually finding it difficult to contract and release. A new study published in natural aging took an in-depth look at the genetic code to understand why this happens.

From a dozen volunteers aged 0 to 82, the team sequenced the entire genome of 56 heart muscle cells, or cardiomyocytes. The result is the first landscape painting of genetic changes in the aging heart. As we age, the heart suffers a double whammy at the DNA level. The genetic code of cells physically breaks down, while their ability to repair DNA is eroded.

It’s a huge surprise. Like brain cells, cardiomyocytes are the biological end game, in that they can no longer divide into newer, younger offspring. These types of cells usually have a kind of protective “armor”, in that they are less susceptible to mutations.

This is not the case for cardiomyocytes. Compared to neurons, cells accumulate DNA damage rapidly with age, and at a rate three times faster, although neurons are a very complex and particularly delicate type of cell.

“As you get older and get more mutations, you add deleterious effects that could push the heart past a tipping point toward disease,” said study author Dr Ming Hui Chen, cardiologist at Boston Children’s Hospital. “It can get to a point where so much DNA is damaged that the heart can’t beat well.”

The results give us an overview of the aging heart. Like a puzzle, they “provide a paradigm for understanding the influence of aging on cardiac dysfunction,” the authors write.

give your heart a break

Cardiomyocytes are tough creatures. Imagine a pump that automatically and reliably injects just the right amount of blood, with reasonable pressure, to flood your entire body with nutrients. If you’ve done any plumbing work, it’s tough. Yet these cells work in sync, mostly without a hitch, for your entire life. It’s a delicate balance: too little pressure or speed robs your brain and other extremities of blood. Too much, and it’s like squirting a big hose of liquids, at high pressure, into a little weed growing in a starter pot.

Like a rubber garden hose, cardiomyocytes wear out with age. Most cases of heart failure occur in people over the age of 65, even when they are relatively healthy, i.e. without high blood cholesterol, blood pressure or any other risk factors running. But not at all.

“Some people at low or intermediate risk, according to traditional risk factors, still have heart disease, suggesting that additional, unidentified factors may be important,” the authors wrote. What else causes heart disease in the elderly population?

Free the DNA from my heart

To tackle the question, the team turned to a powerful genetic tool: single-cell sequencing, which transcribes the DNA string of each cell analyzed. The technique captures individuality – for example, genetic and other changes – that would otherwise be obscured by analyzing and averaging hundreds of cells simultaneously.

The diversity of a cell’s genome was central to the study design. “This is the first time that somatic mutations have been examined in the human heart at the single-cell level,” said study author Dr Sangita Choudhury.

The team looked at how the DNA signature of heart cells changes with age. These types of mutations are called “somatic mutations” because they cannot be passed on to the next generation.

Not all cells are built the same. Some, like liver cells, can take a fair amount of damage and rebuild themselves. Others, like cardiomyocytes, can no longer divide and must sustain any DNA damage themselves. With age, these cells can accumulate genetic mutations. They’re tricky: most don’t have obvious effects, but some, like a horror movie villain, can silently trigger cancer cells, or even kill them. These mutations have previously been linked to coronary heart disease, a major cause of heart problems as we age.

Trying to capture the mutational signatures leading to heart disease, the team dove deep into the genes of donated hearts from people ranging from infancy to the elderly. By isolating the nuclei – the round, apricot-seed-like structure that houses DNA – they evaluated their method and then compared the genetic sequences of three different age groups.

They focused on one main difference: single nucleotide mutations (also called single nucleotide polymorphisms or SNPs). These changes are simple: they are a single letter swap in the genome rather than, say, an entire piece that is reversed or duplicated. SNPs, when evaluated as a whole, contain a wealth of information. They are the most common form of somatic mutations.

Like pins marking journeys on a world map, with enough SNP mutations, it is possible to construct a complete “map,” or signature, related to specific biological processes or diseases. For example, there is a map of cellular changes related to smoking or DNA repair issues.

“Understanding mutational signatures and their mechanism of formation could lead us to uncover the mechanism of DNA damage and disease progression in the aging heart,” the authors said.

Sequencing nearly 60 samples, the team then worked on an algorithm to analyze the data, comparing it to a well-known cancer signature database called COSMIC. DNA changes increased with age, with mutation types falling within four different signature types. Signature A, for example, swapped the DNA letters C and T. While that might not seem like much, imagine replacing all the Cs in this article with Ts, or vice-versa, that would break up the whole text.

By digging deeper into the molecular underpinnings of the signatures, the team found a potential culprit of aging and heart dysfunction: oxidative stress. An unfortunate byproduct of a cell’s normal metabolism, these molecules act like little cannonballs, wreaking havoc inside cells, DNA and their membranes. While younger cells normally have a way of repelling vicious attacks, older ones gradually lose this ability. The result is not pretty. Heart cells, for example, can end up with damaged DNA letters while simultaneously destroying their genome repair mechanism.

In a way, it’s not that surprising, Chen said. “Because the heart is always pumping, it uses a lot of energy,” which produces chemicals that can damage DNA. What came as a shock was the heart’s special ability to parry damage. Cardiomyocytes have the power to double their chromosomes, buffering themselves against relentless attacks on their DNA.

So far, the study only shows that somatic mutations increase with age, which correlates with damaged heart cells. If the DNA letter exchanges cause cardiac injuries are yet to be determined. But the study is a first for dissecting heart disease at the single-cell level on a large scale. It’s like going from amateur binoculars to the James Webb Space Telescope: we can now analyze every cell, like a star in the sky, by analyzing its DNA inside an aging heart.

Aside from cardiomyocytes, “we also want to look at different types of cells in the heart,” Choudhury said. “We have only touched the tip of the iceberg.”

Image Credit: AnaitSmi / Shutterstock.com

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