Posts about genetics

Huge Human Population Boom 40,000 to 50,000 Years Ago

Interesting open access paper on looking at the Y-chromosome to explore our ancestry: A calibrated human Y-chromosomal phylogeny based on resequencing. I can’t understand all the details but the basic idea isn’t that complicated. It is interesting to see these details as are the conclusions that can be drawn: that we had a big explosion of human population o 41,000–52,000 years ago.

This population explosion occurred, between the first expansion of modern humans out of Africa 60,000 to 70,000 years ago and the Neolithic expansions of people in several parts of the world starting 10,000 years ago.

“We think this second, previously unknown population boom, may have occurred as humans adapted to their new environment after the first out-of-Africa expansion,” says Dr Qasim Ayub, lead author from the Wellcome Trust Sanger institute. “We think that when humans moved from the horn of Africa to Asia, Australia and eventually Europe, they remained in small groups by the coasts. It took them tens of thousands of years to adapt to the mountainous, forested surroundings on the inner continents. However, once their genetic makeup was suited to these new environments, the population increased extremely rapidly as the groups travelled inland and took advantage of the abundance of space and food.”

The work highlights how it is now possible to obtain new biological insights from existing DNA sequencing data sets, and the value of sharing data. The majority of the DNA information used for this study was obtained from freely-available online data-sets.

This is the first time researchers have used the information from large-scale DNA sequencing to create an accurate family tree of the Y chromosome, from which the inferences about human population history could be made.

Full press release

Related: Laser Tool Creates “blueprints” of Archeology SitesHHMI on Science 2.0: Information RevolutionScientists crack 40-year-old DNA puzzle

Human Gene Origins: 37% Bacterial, 35% Animal, 28% Eukaryotic

The percent of human genes that emerged in various stages of evolution: 37% bacterial, 28% eukaryotic, 16% animal, 13% vertebrate, 6% primate. The history that brought us to where we are is amazing. Eukaryotes include animals, plants, amoebae, flagellates, amoeboflagellates, fungi and plastids (including algae). So eukaryotic genes are those common to us and other non-animal eukaryotes while those classified as animal genes are shared by animals but not non-animal eukaryotes.

We are living in a bacterial world, and it’s impacting us more than previously thought by Lisa Zyga

Bacterial signaling is not only essential for development, it also helps animals maintain homeostasis, keeping us healthy and happy. As research has shown, bacteria in the gut can communicate with the brain through the central nervous system. Studies have found that mice without certain bacteria have defects in brain regions that control anxiety and depression-like behavior. Bacterial signaling also plays an essential role in guarding an animal’s immune system. Disturbing these bacterial signaling pathways can lead to diseases such as diabetes, inflammatory bowel disease, and infections. Studies also suggest that many of the pathogens that cause disease in animals have “hijacked” these bacterial communication channels that originally evolved to maintain a balance between the animal and hundreds of beneficial bacterial species.

Scientists have also discovered that bacteria in the human gut adapts to changing diets. For example, most Americans have a gut microbiome that is optimized for digesting a high-fat, high-protein diet, while people in rural Amazonas, Venezuela, have gut microbes better suited for breaking down complex carbohydrates. Some people in Japan even have a gut bacterium that can digest seaweed. Researchers think the gut microbiome adapts in two ways: by adding or removing certain bacteria species, and by transferring the desired genes from one bacterium to another through horizontal gene transfer. Both host and bacteria benefit from this kind of symbiotic relationship, which researchers think is much more widespread than previously thought.

We want badly for the message in ‘Animals in a bacterial world,’ to be a call for the necessary disappearance of the old boundaries between life science departments (e.g., Depts of Zoology, Botany, Microbiology, etc.) in universities, and societies (e.g., the American Society for Microbiology, etc.). We also want the message disseminated in college and university classes from introductory biology to advanced courses in the various topic areas of our paper.”

Very cool stuff. This amazing facts scientists discover provide an amazing view of the world we live in and how interconnected we are to other life forms in ways we don’t normally think of.

Related: People’s Bodies Carry More Bacterial Cells than Human CellsMicrobes Flourish In Healthy PeopleTracking the Ecosystem Within UsForeign Cells Outnumber Human Cells in Our BodiesBacteria Beneficial to Human Health

Epigenetic Effects on DNA from Living Conditions in Childhood Persist Well Into Middle Age

Family living conditions in childhood are associated with significant effects in DNA that persist well into middle age, according to new research by Canadian and British scientists.

The team, based at McGill University in Montreal, University of British Columbia in Vancouver and the UCL Institute of Child Health in London looked for gene methylation associated with social and economic factors in early life. They found clear differences in gene methylation between those brought up in families with very high and very low standards of living. More than twice as many methylation differences were associated with the combined effect of the wealth, housing conditions and occupation of parents (that is, early upbringing) than were associated with the current socio-economic circumstances in adulthood. (1252 differences as opposed to 545).

I find Epigenetics to be a very interesting area. My basic understanding as I grew up was that you inherited your genes. But epigenetics explores how your genes change over time. This has been a very active area of research recently. Your DNA remains the same during your life. But the way those genes are expressed changes.

I don’t know of any research supporting the idea I mention in this example, but, to explain the concept in a simple way: you may carry genes in your DNA for processing food in different ways. If you have very limited diet the way your body reacts could be to express genes that specialize in maximizing the acquisition of nutrition from food. And it could be that your body sets these expressions based on your conditions when young; if later, your diet changes you may have set those genes to be expressed in a certain way. Again this is an example to try and explain the concept, not something where I know of research that supports evidence for this example.

The findings by these universities, were unfortunately published in a closed way. Universities should not support the closing of scientific knowledge. Several universities, that support open science, require open publication of scientific research. It is unfortunate some universities continue to support closed science.

The research could provide major evidence as to why the health disadvantages known to be associated with low socio-economic position can remain for life, despite later improvement in living conditions. The study set out to explore the way early life conditions might become ‘biologically-embedded’ and so continue to influence health, for better or worse, throughout life. The scientists decided to look at DNA methylation, a so-called epigenetic modification that is linked to enduring changes in gene activity and hence potential health risks. (Broadly, methylation of a gene at a significant point in the DNA reduces the activity of the gene.)

Related: DNA Passed to Descendants Changed by Your LifeBlack Raspberries Alter Hundreds of Genes Slowing CancerBreastfeeding Linked to More Intelligent Kids

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I Always Wanted to be Some Sort of Scientist

A nice simple post by a soon to be Dr. of Genetics and Molecular Biology on what being a scientist is like for her. I like her take, which I think is much more accurate than some of the generalities people use. The main reason people (men or women) become scientists because they want to be scientists.

photo of almost-Dr. Caitlin

Photo the almost-Dr. Caitlin

The truth is science requires you to be social. We share ideas, techniques, and equipment. A good scientist knows her limitations and uses someone else’s expertise when her own is not enough. The modern scientist communicates not only through conferences and journals, but also through blogging and Facebook.

When a non-scientist (usually my parents or some other close relative) asks me about what I do, they inevitably want to tie it back to how I’m curing a disease and saving the world. I am not curing a disease or saving the world.

I study science because it’s cool. I study basic science — asking questions for the purpose of learning the answer. That doesn’t mean what I do isn’t important. Lots of ground-breaking medical advances have been made just because someone asked a question no one else thought to ask.

To all you ladies fighting the good fight in other fields, keep at it, because the numbers are going up for women with advanced degrees.

I’ve always wanted to be some sort of scientist. When I was in elementary school I wanted to be a paleontologist because dinosaurs are awesome (and so was “Jurassic Park”). When I was 11, I read the Hot Zone and knew I wanted to be a biologist. Though there were times that I flirted with the Dark Side, i.e., medical school, but mostly only because when my teachers figured out I was good at science they said go to medical school. No one even suggested becoming a scientist.

Great stuff. Good Luck, Caitlin.

Related: Movie Aims to Inspire College Students With Tales of Successful Minority ScientistsKids on Scientists: Before and After Talking to Real Live ScientistsWomen Choosing Other Fields Over Engineering, Math, Physics and Computer Science

Most Genes? A crustacean the size of a grain of rice

photo of Daphnia, a crustacean

“Daphnia are ubiquitous in freshwater ponds and lakes and are often used to assess the health of ponds. Since the creature is so well studied by ecologists, knowing its genetics should reveal a lot about how genes respond to different environments.

The first scientists to describe Daphnia thought they were a kind of flea because they assumed the red color came from sucking blood as fleas do. It turns out they’re not bloodsuckers – they’re blood makers. Daphnia have genes that make hemoglobin, so when the animal is stressed out, those genes switch on and the animal looks red.

In fact Daphnia have an astonishingly large number of genes. “We count more than 31,000 genes,” says [John] Colbourne. By comparison, the human genome has more like 23,000 genes. If Guinness tracks such things, Daphnia would hold the record for the most genes of any animal studied to date.

“Many of those genes – we estimate around 35 percent of them – are brand new to science,”

Daphnia can grow its own spear and helmet when threatened by an attacker

Related: Our Genome Changes as We AgeAmazing Designs of LifeOne Species’ Genome Discovered Inside Another SpeciesBdelloid Rotifers Abandoned Sex 100 Million Years Ago

Boa Constrictor Gives Birth to Clones

Snake gives ‘virgin birth’ to extraordinary babies

A female boa constrictor snake has given birth to two litters of extraordinary offspring. Evidence suggests the mother snake has had multiple virgin births, producing 22 baby snakes that have no father. More than that, the genetic make-up of the baby snakes is unlike any previously recorded among vertebrates, the group which includes almost all animals with a backbone.

“All offspring are female. The offspring share only half the mother’s genetic make-up,” he told the BBC.

Humans for example have X or Y sex chromosomes; females have two X chromosomes and males have a combination of an X and a Y chromosome. In place of X and Y, snakes and many other reptiles have Z and W chromosomes.

In all snakes, ZZ produces males and ZW produces females. Bizarrely, all the snakes in these litters were WW. This was further proof that the snakes inherited all their genetic material from their mother, as only females carry the W chromosome.

“Essentially they are half clones of their mother,” says Dr Booth. That is because the baby snakes have inherited two copies of one half of their mother’s chromosomes, including one W chromosome.

More astonishing though, is that no vertebrate animal in which the females carry the odd sex chromosome (in this case the W chromosome) has ever been recorded naturally producing viable WW offspring via a virgin birth.

“For decades WW has been considered non-viable” says Dr Booth. In such species, all known examples of babies that are the product of parthenogenesis are male, carrying a ZZ chromosomal arrangement.

Related: No sex for all-girl fish speciesVirgin Birth for Another Shark SpeciesBdelloid Rotifers Abandoned Sex 100 Million Years AgoWorld’s Smallest Snake Found in BarbadosAndrogenesis

Essentials of Genetics Website Reference

Scitable is a science library and personal learning tool on genetics developed by Nature. I must admit I am against the closed science stance Nature normally supports. But this is a good effort on their part at actually talking advantage of the internet to openly promote science. I imagine Nature will eventually more and more move toward supporting open science.

The website has a library of over 200 faculty-written, peer-reviewed articles on core concepts in genetics, plus a video-based online primer called Essentials of Genetics, glossaries, spotlights on key issues, and lots more high quality faculty and student resources.

Scitable is a great place to research and learn more about genetics topics such as diseases, evolution, genetics and society.

Related: Gene Duplication and EvolutionDNA Passed to Descendants Changed by Your LifeAnger at Anti-Open Access Press Strategy

Microcosm by Carl Zimmer

cover of Microcosm by Carl Zimmer

Microcosm: E. Coli and the New Science of Life by Carl Zimmer is an excellent book. It is full of fascinating information and as usual Carl Zimmer’s writing is engaging and makes complex topics clear.

E-coli keep the level of oxygen low in the gut making the resident microbes comfortable. At any time a person will have as many as 30 strains of E. coli in their gut and it is very rare for someone ever to be free of E. coli. [page 53]

In 1943, Luria and Delbruck published the results that won them the 1969 Nobel Prize in Physiology or Medicine in which they showed that bacteria and viruses pass down their traits using genes (though it took quite some time for the scientific community at large to accept this). [page 70]

during a crisis E coli’s mutation rates could soar a hundred – or even a thousandfold… Normally, natural selection favors low mutation rates, since most mutations are harmful. But in times of stress extra mutations may raise the odds that organisms will hit on a way out of their crisis… [alternatively, perhaps] In times of stress, E coli. may not be able to afford the luxury of accurate DNA repair. Instead, it turns to the cheaper lo-fi polymerases. While they may do a sloppier job, E coli. comes out ahead [page 106]
Hybridization is not the only way foreign DNA got into our cells. Some 3 billion years ago our single-celled ancestors engulfed oxygen-breathing bacteria, which became the mitochondria on which we depend. And, like E. coli, our genomes have taken in virus upon virus. Scientists have identified more than 98,000 viruses in the human genome, along with our mutant vestiges of 150,00 others… If we were to strip out all our transgenic DNA, we would become extinct.

I highly recommend Microcosm, just as I highly recommend Parasite Rex, by Carl Zimmer.

Related: Bacteriophages: The Most Common Life-Like Form on EarthForeign Cells Outnumber Human Cells in Our BodiesAmazing Designs of LifeAmazing Science: RetrovirusesOne Species’ Genome Discovered Inside Another’s

Antigen Shift in Influenza Viruses

Antigenic shift is the process by which at least two different strains of a virus, (or different viruses), especially influenza, combine to form a new subtype having a mixture of the surface antigens of the two original strains.

Pigs can be infected with human, avian and swine influenza viruses. Because pigs are susceptible to all three they can be a breeding ground for antigenic shift (as in the recent case of H1N1 Flu – Swine Flu) allowing viruses to mix and create a new virus.

Related: Swine Flu: a Quick OverviewOne Sneeze, 150 Colds for CommutersWashing Hands Works Better than Flu Shots (study results)Learning How Viruses Evade the Immune SystemAlligator Blood Provides Strong Resistance to Bacteria and Viruses

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Gene Duplication and Evolution

Roughly 10 million years ago, a major genetic change occurred in a common ancestor of gorillas, chimpanzees, and humans. Segments of DNA in its genome began to form duplicate copies at a greater rate than in the past, creating an instability that persists in the genome of modern humans and contributes to diseases like autism and schizophrenia. But that gene duplication also may be responsible for a genetic flexibility that has resulted in some uniquely human characteristics.

“Because of the architecture of the human genome, genetic material is constantly being added and deleted in certain regions,” says Howard Hughes Medical Institute investigator and University of Washington geneticist Evan Eichler, who led the project that uncovered the new findings. “These are really like volcanoes in the genome, blowing out pieces of DNA.”

Eichler and his colleagues focused on the genomes of four different species: macaques, orangutans, chimpanzees, and humans. All are descended from a single ancestral species that lived about 25 million years ago. The line leading to macaques broke off first, so that macaques are the most distantly related to humans in evolutionary terms. Orangutans, chimpanzees, and humans share a common ancestor that lived 12-16 million years ago. Chimps and humans are descended from a common ancestral species that lived about 6 million years ago.

By comparing the DNA sequences of the four species, Eichler and his colleagues identified gene duplications in the lineages leading to these species since they shared a common ancestor. They also were able to estimate when a duplication occurred from the number of species sharing that duplication. For example, a duplication observed in orangutan, chimpanzees, and humans but not in macaques must have occurred sometime after 25 million years ago but before the orangutan lineage branched off.

Eichler’s research team found an especially high rate of duplications in the ancestral species leading to chimps and humans, even though other mutational processes, such as changes in single DNA letters, were slowing down during this period.

Related posts: 8 Percent of the Human Genome is Old Virus GenesMutation Rate and EvolutionDNA Passed to Descendants Changed by Your Life
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Extinct Ibex is Resurrected by Cloning

Extinct ibex is resurrected by cloning

The Pyrenean ibex, a form of wild mountain goat, was officially declared extinct in 2000 when the last-known animal of its kind was found dead in northern Spain. Shortly before its death, scientists preserved skin samples of the goat, a subspecies of the Spanish ibex that live in mountain ranges across the country, in liquid nitrogen.

Using DNA taken from these skin samples, the scientists were able to replace the genetic material in eggs from domestic goats, to clone a female Pyrenean ibex, or bucardo as they are known. It is the first time an extinct animal has been cloned.

Sadly, the newborn ibex kid died shortly after birth due to physical defects in its lungs. Other cloned animals, including sheep, have been born with similar lung defects. But the breakthrough has raised hopes that it will be possible to save endangered and newly extinct species by resurrecting them from frozen tissue.

It has also increased the possibility that it will one day be possible to reproduce long-dead species such as woolly mammoths and even dinosaurs.

Related: tree climbing goats of MoroccoBaby Sand Dollars Clone Themselves When They Sense DangerMojave Desert Tortoises

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