Genome in Dissolution

‘ 25 geneticists sat together at the University of California at Berkeley to answer the seemingly simple question: What is a gene?’

A few takeaways.

‘ In reality, our genetic makeup is constantly changing.’

‘ The result: every organism, every human being, even every body cell is a genetic universe of its own.’

‘ The genome is not a stable text. ’

‘ In truth, a lot of hereditary information is subject to a process of reproduction and exists in up to 16 copies in the cell nucleus.’

‘ the number of copies of the genes can decrease or increase, even the body cells of an individual person differ from one another ’

‘ Matthew Hahn compared the genome with a revolving door: “Genes keep coming, others go.”

‘ Only such dynamic processes can, in their interplay, have such a powerful impact on the psychological and physical characteristics of humans. Because these are not controlled by individual genes, but rather by networks of often hundreds of genetic makeup. These gene systems often react very sensitively to even subtle changes in individual genes.’

‘ the experts also detected an abundance of so-called indels: millions of times, entire sections had been newly incorporated into the hereditary molecules (inversion) or simply disappeared (deletion).
Others had detached themselves from their surroundings and put themselves back the other way around. The previous conviction that every gene usually only exists twice in the genome (once in the paternal, once in the maternal, inherited sentence of the Chromosomes).’

‘ At least physically, humans no longer appear as individuals, but as an association of selfish cell colonies. In up to ten percent of all hereditary factors – and perhaps much more – either only the maternal or the paternal variant is active. This pattern, called “autosomal monoallelic expression” in technical jargon, is already established in the embryo. And that each cell makes its own decision. “

“ It is a fact that identical twins are not genetically identical, says Chess, “that is a really exciting result.” There are clear differences not only in the exclusively maternal or paternal activity pattern of their genes, but also in their CNV pattern. “We always asked ourselves why there are differences between identical twins, for example in terms of susceptibility to complex diseases,” says Chess. “Our discovery is an explanation.” Social and material external factors can also shape a person via biology – by changing their genetic functions. Through so-called epigenetic processes, stress or torture, lack of nutrition or deprivation of love can have a negative effect on the cell nucleus

“ the adult organism resembles a patchwork of cell clusters, whose genetic networks are knitted differently”

“ the research findings paint a picture of a system fragile puzzles made up of biologically disparate units. Health would therefore be an unstable state in which the egoisms of the pieces of the mosaic are kept in check. ”

‘ Steven Henikoff: “I like the idea that we are mosaics.’

‘ In view of the flood of these still largely mysterious findings, genetic researchers are faring in a very similar way to cosmologists who have been researching the mysterious “dark matter” in the universe for several years. Even the bioscientists are now puzzling over the dark matter of the genome. Our genome does not determine what kind of person grows out of it. They could find the dark secret in that part of the genome that they have previously dismissed as garbage, as ” Junk DNA «.’

‘ The conclusion from all these new findings can only be: Although the characteristics of a person are based on their genome, they are nevertheless in the open system of the embryonic genome does not in any way determine which person will grow out of it. Even if an embryo, exactly duplicated down to the last molecule, could be allowed to grow in the womb under identical circumstances – “another person would still come out,” assures the Berlin geneticist Nikolaus Rajewsky. And that without any influence from education and culture.’

‘In view of the complexity and indeterminacy of the genetic processes, many visions of the optimized designer are now emerging but also some warnings about the dangers of genetic research as a much simplified vulgar biologism.

‘Tinkering with the genome turns out to be much more complicated than expected. And the fantasy that one could resurrect gifted artists, brilliant researchers or just a loved one in an identical form through cloning will probably remain wishful thinking forever.’

Source: ( German )
https://onedrive.live.com/?authkey=%21AIUd9D%5FqhO2axKE&cid=40F805FCA9C3...)

Google translate :

Genome in dissolution DIE ZEIT, June 12, 2008 .

The genome was considered to be the unchangeable blueprint of human beings that was established at the beginning of our lives. Science has to say goodbye to this idea.

In reality, our genetic makeup is constantly changing.

VON ULRICH BAHNSEN Two years ago, 25 geneticists sat together at the University of California at Berkeley to answer the seemingly simple question: What is a gene?
The attempt to define the basic concept of their field precisely, however, turned out to be extremely difficult. The meeting of experts almost ended in disaster, recalls Karen Eilbeck, Professor of Human Genetics at Berkeley and host of the group: “We had meetings that lasted for hours. Everyone yelled at everyone. ”The Berkeley argument has little to do with research vanity. It was a first symptom that the life sciences – still unnoticed by the public – are on the verge of a turning point. What researchers bring to light in the chromosome strands of humans or animals goes beyond the previous thought patterns of genetics. Quite similar to the beginning of the 20th Century, when Einstein and his colleagues formed a new physical view of the world, the age of relativistic genetics may now dawn. Medical research in particular is facing new challenges. In the first outlines it can be seen: body and soul, their health, illness, development and aging are subject to a genetic interplay, the complexity of which exceeds all previous ideas. Geneticists have to say goodbye to their image of a stable genome in which changes are pathological exceptions.

Everyone’s genetic make-up is constantly changing. The result: every organism, every human being, even every body cell is a genetic universe of its own.
The first analysis of the human genome was still a lengthy and costly affair, the result – in 2000 by US President Bill Clinton’s “Book of Life” celebrated – a sequence of three billion letters. New laboratory techniques, with the help of which huge amounts of data can be generated and analyzed, have since generated a flood of new findings on the inner workings of the human genome in particular. The book dissolves in front of the readers’ eyes. The genome is not a stable text. The evidence also raises fundamental philosophical questions, such as the genetic and thus biophysical identity of humans – and may require radically different answers.
The geneticists have a new “human project” in their sights – the motto: Everything about you. “Our assumptions were so naive that it is almost embarrassing,” says Craig Venter. The latest results show more than ever that humans are a product of genetic processes is. But also that these processes are equipped with many degrees of freedom: they form an open system in which by no means everything is predetermined, something very few knew about after the first genome decoding. The experts believed they had understood what a gene looks like and functions, and what functional principles the human or microbe genome follows. “In retrospect, our assumptions about how the genome worked at the time were so naive that it is almost embarrassing,” says Craig Venter, who was involved in the project with his company Celera.
One had expected a collection of complicated but understandable cooking recipes for the life processes. Now it becomes clear: The Book of Life is full of enigmatic prose. It was only the first high point of the upheaval when the conviction of the genetic uniformity and thus the identity of humanity was shattered a few months ago. Until then, it was assumed that the genetic makeup of any two people was only differs in about one per thousand of all DNA building blocks. But the differences in the human genome are actually so great that science now confirms what the Cologne vernacular has known for a long time: “Every Jeck is different.” Very different! Craig Venter himself contributed to this realization.
The charismatic gene guru from Rockville, Maryland, has had his own genome deciphered. Almost at the same time, experts from the company 454 Life Sciences decoded the genome of Nobel Prize winner James Watson, discoverer of the DNA double helix and Venter’s intimate enemy. He didn’t want to hope, Venter teased, that there would be too many similarities between him and Watson.
After the celebrity sequencing of the research divisions, scientists in Shenzhen announced that they had completely deciphered an anonymous Han Chinese. A few days ago, the geneticist Gert-Jan van Ommen from the University of Leiden reported the first decoding of a woman. It is the clinical geneticist Marjolein Kriek, a member of van Ommen’s team.

The fine analyzes of the genetic data now show that people’s genes are just as diverse as they are different in body and mind. Venter’s genome made it possible to catalog the differences for the first time.
The genome of the human body cells consists of a set of chromosomes inherited from the father and half from the mother. The researchers anticipated that parental dowry would be different; It has long been known that there are numerous exchanges of individual letters in the genome (so-called SNPs – single nucleotide poly morphisms). But they were surprised by the true extent of the differences: In almost every second gene of the researcher, they found differences between the maternal and paternal gene copies. During the comparison, the experts also detected an abundance of so-called indels: millions of times, entire sections had been newly incorporated into the hereditary molecules (inversion) or simply disappeared (deletion).
Others had detached themselves from their surroundings and put themselves back the other way around. The previous conviction that every gene usually only exists twice in the genome (once in the paternal, once in the maternal, inherited sentence of the Chromosomes).

In truth, a lot of hereditary information is subject to a process of reproduction and exists in up to 16 copies in the cell nucleus. Various research teams have now discovered such copy variations (CNVs, copy number variants) in at least 1500 human genes; there are probably many more of these Xerox genes, with each person having their own CNV ( copy number variation) profile.
( CNV- is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.- https://en.m.wikipedia.org/wiki/Copy_number_variation)

The explosiveness of the findings is exacerbated by the discovery that the CNV patterns in the genome are by no means stable, the number of copies of the genes can decrease or increase, even the body cells of an individual person differ from one another Genome is a natural constant, a fixed human source code.

The US geneticist Matthew Hahn compared the genome with a revolving door: “Genes keep coming, others go.” Only such dynamic processes can, in their interplay, have such a powerful impact on the psychological and physical characteristics of humans. Because these are not controlled by individual genes, but rather by networks of often hundreds of genetic makeup. These gene systems often react very sensitively to even subtle changes in individual genes. If, for example, genes for signal substances or their recipient molecules are multiplied in it, the communication systems of the organism change. The copying mechanics in the genome should therefore be responsible for the physical characteristics of the individual, but also for complex diseases such as diabetes, autoimmune diseases or heart diseases. The brain functions in particular seem to be affected: CNVs ( copy number variations) are the main cause of various forms of intellectual disability, autism, schizophrenia and other organic brain dysfunction. Presumably, in interaction with other genetic processes, they also regulate the manifestations of healthy psychological properties. “This is one of the most exciting and fertile new areas in human genetics,” says US geneticist David Haussler of the University of California at Santa Cruz. The genome-wide search for such gene variations has already produced amazing results.

The medicine of the future, the researcher predicts, will be shaped by the results of ultra-fast genome sequencing and massive computing power: “We have to keep an eye on hundreds, maybe thousands of genes at the same time in order to understand diseases.” Identical twins develop genetically as embryos apart The 1000 Genomes Project has now been started to determine the extent of the construction work in the genetic stock. Over the course of three years, the consortium of sequencing centers in the United States, Great Britain and China plans to sequence the genome of 1,000 people from all over the world and record the variance of the genetic data from various population groups around the world.

The interplay in the human genome is not only able to explain the individual characteristics of the individual, it also produces the genetic assortment from which evolution further shapes humans. This makes another disturbing finding understandable: The species Homo sapiens is apparently subject to turboevolution. Hundreds of areas in the genome have changed much faster than in other primates. New studies even come to the conclusion that civilization must have accelerated human evolution by a factor of 100 since the beginning of the Neolithic. The magazine Science selected the discovery of these genetic variations as the breakthrough in 2007. Not even a year earlier, the journal mused one celebrates the prospect of distilling those factors that mark the evolutionary path to Homo sapiens through the precise genome comparison of humans and chimpanzees. But even before the question of what makes us human in our DNA is answered many. At least physically, humans no longer appear as individuals, but as an association of selfish cell colonies. In up to ten percent of all hereditary factors – and perhaps much more – either only the maternal or the paternal variant is active. This pattern, called “autosomal monoallelic expression” in technical jargon, is already established in the embryo. And that each cell makes its own decision. “We believe this is what happens when the embryo implants,” says Harvard University geneticist Andrew Chess. The result: the adult organism resembles a patchwork of cell clusters, whose genetic networks are knitted differently. Contrary to previous estimates, whether individual genetic information in these gene cascades comes from father or mother has drastic effects. Their information content can show subtle differences, but these have profound consequences in the highly complex networks that control human characteristics.

Another fascinating finding comes from the Harvard laboratory of Andrew Chess: Monoallelic expression particularly often affects genes that were subject to accelerated evolution in the course of human development, and those with an important function in the central nervous system. What this means for the functioning of the brain and the construction of the psyche cannot even be estimated at the moment. Since then, Passé has been the belief that at least the healthy organism represents a harmonious system that works in harmony with itself.
Instead, the research findings paint a picture of a system fragile puzzles made up of biologically disparate units. Health would therefore be an unstable state in which the egoisms of the pieces of the mosaic are kept in check. In any case, however, the following applies: Even the biological identity of the individual is probably up for grabs.

What sounds terrifying to many is an inspiring idea for the American geneticist Steven Henikoff: “I like the idea that we are mosaics.” This essentially threatens the work of those scientists who want to measure the influence of the environment on human development . For decades, when comparing monozygotic and dizygotic twins, they have tried to differentiate the influence of the environment from the dictates of genes. They considered the differences between their own twin pairs as a measure of the environmental impact on human characteristics – after all, they are endowed with completely identical genes. Therefore, all differences should be cultural and not biological. But as it turns out, there can be no question of that: It is a fact that identical twins are not genetically identical, says Chess, “that is a really exciting result.” There are clear differences not only in the exclusively maternal or paternal activity pattern of their genes, but also in their CNV pattern. “We always asked ourselves why there are differences between identical twins, for example in terms of susceptibility to complex diseases,” says Chess. “Our discovery is an explanation.” Social and material external factors can also shape a person via biology – by changing their genetic functions. Through so-called epigenetic processes, stress or torture, lack of nutrition or deprivation of love can have a negative effect on the cell nucleus In view of the flood of these still largely mysterious findings, genetic researchers are faring in a very similar way to cosmologists who have been researching the mysterious “dark matter” in the universe for several years. Even the bioscientists are now puzzling over the dark matter of the genome. Our genome does not determine what kind of person grows out of it. They could find the dark secret in that part of the genome that they have previously dismissed as garbage, as ” Junk DNA «.

For them, only those few percent of the genome were relevant which, as genes of conventional definition, contain the information necessary for the structure of proteins in the cells. The rest was considered evolutionary junk. At best, this part of the genome could be imagined as a stabilizing element, as it were as the connecting cement between the actually important genetic information. Now, however, it becomes clear that it is above all the dark DNA matter in the chromosomes in which many of the newly discovered processes take place. Apparently the “junk” is full of unknown genes, populated by control modules. Especially the so-called microRNAs, a until recently unknown class of genetic information, regulate a multitude of developmental and disease processes. The conclusion from all these new findings can only be: Although the characteristics of a person are based on their genome, they are nevertheless in the open system of the embryonic genome does not in any way determine which person will grow out of it. Even if an embryo, exactly duplicated down to the last molecule, could be allowed to grow in the womb under identical circumstances – “another person would still come out,” assures the Berlin geneticist Nikolaus Rajewsky. And that without any influence from education and culture.

In view of the complexity and indeterminacy of the genetic processes, many visions of the optimized designer are now emerging but also some warnings about the dangers of genetic research as a much simplified vulgar biologism.

Tinkering with the genome turns out to be much more complicated than expected. And the fantasy that one could resurrect gifted artists, brilliant researchers or just a loved one in an identical form through cloning will probably remain wishful thinking forever.

( modified by F. Neubeck 2013)