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Human Evolution 1 Genetics 2 Mutations 3 Natural Selection 4 Darwinism/Lamarck’s Theory 5 Taxonomy 6 Traits and Punnett Squares 7 Evolution of Diets 8 Evolution of Diseases 9 Immigration 10 Emigration 11 Paleoanthropology 12 Development of the Brain 13 Evolution of Behavior 14 Human Genome Project 15 Glossary 16 About the Authors 18 Image Credits 19 It is widely accepted in science that the Homo sapiens, or humans, that we see today are descended from primates like the chimpanzee. The oldest human-like fossils have been found in the Middle East, leading scientists to think that the first ape-humans came about in this area of the world. Although scientists may know where and how humans evolved from our ape ancestors, why this occurred is still unclear. Many theories of human evolution haved been proposed, each outlining a situation that could have caused primates to evolve into such a unique species. Scientists are still working today to find the theory that best matches all of the changes that are present between apes and humans, especially the difference in intelligence. Savanna theory: Millions of years ago, apes may have moved to the savanna due to changes in climate. The need to hunt for food and to see over the tall grass led to the development of bipedalism as well as tool-making and cooperation. The heat of the savanna caused them to lose their hair in the interest of staying cool. Aquatic Ape theory: Evidence supports the theory that our ape ancestors lived half in the water and half on land. Our skin doesn’t shift around like a cat’s or dog’s. Only marine mammals have this trait. Standing upright allows us to wade farther into the water. We have no fur like other marine mammals. Our strange nostrils allow us to dive underwater. To this day, scientists are in a heated debate over which theory is better. Another semi-aquatic species of ape exists that is strikingly similar to humans in physical characteristics. The skull on the left is of Homo floresiensis, the humanlike creature that lived on the island of Flores in Indonesia. The species is now extinct, but by analyzing the fossils left behind, scientists can conclude many aspects of their physique and behavior. The skull on the right is a human skull. Genetics, the science of genes, heredity, and variations, is a subset of modern science that has evolved greatly since the 19th century. Starting with Gregor Mendel’s pea plant experiment in 1868, moving to Watson and Crick and their DNA discovery in 1953, and finally the sequencing of the entire genome in 2003, genetics constantly changes every year. Our understanding of how traits are passed on from generation to generation has evolved since Mendel pioneered genetics research in 1868. DNA, or deoxyribonucleic acid, is the basis behind what drives genetics. All of the genes that exist in the bodies of organisms are coded for by nucleotides in the DNA. Along with proteins and RNA, it is one of the essential building blocks for life. The double helix shape of the DNA strand is unique, and it is well suited for storing biological information. When organisms pass on traits to the next generation, DNA is where these traits are stored. Sometimes, internal or external factors can lead to the denaturing of the proteins in the body. This will lead to mutations in the genes of an organism. These mutations can lead to the production of offspring that have a deformation or a neurological disease. Mutations can either remove or add extraneous bits of DNA to the strand, and this can lead to the formation of cancer cells or abnormalities in the body. However, these genetic variations sometimes lead to good things as well. The immune system is formed through a series of mutations in the body; evolution also happens because of mutations. Natural selection is also aided by the positive side effects of genetic mutations. In the genome of the cell, denatured proteins cause there to be an increase in genetic variation amongst the alleles. Polyploidy, or the instance where an organism has an extra mutated set of chromosomes, is a result of a genetic mutation. However, this mutation is absolutely necessary for natural selection in organisms. This also relates to epigenetics in the evolutionary sense. Epigenetics is the study of the change in gene expression as caused by mutations and natural selection. The results of the mutations are passed down through genes in a process called heredity. Epigenetic factors alter the genes that are being passed on to the next generation, altering the phenotype of the offspring. Natural selection is one of the major mechanisms of evolution. It occurs when one phenotype in a species is more likely to survive than others. Because of their higher rate of survival, this phenotype may reproduce more successfully than the others and slowly dominate the gene pool. Other scenarios can cause natural selection as well, such as when a specific phenotype is less likely to survive than the others. Natural selection can only occur when a population is under stress. Otherwise, all of the phenotypes would survive and reproduce regardless of their advantages or disadvantages. Stress can come in many forms for a population, such as competition, predators, pollution, and disease. The peppered moths below show an example of how different phenotypes can have an advantage under some circumstances: The right-most picture shows a simulation of the natural habitat of the peppered moth, with a background colored like a tree. It is much easier to see the black moths on this background than the camouflaged white ones! However, the habitat of the peppered moth has become polluted and covered with ash from nearby factories. Now, their habitat looks much more like the picture on the left. In both scenarios, it is the more obvious moths that would be noticed first by hungry birds; therefore, the camouflaged color is more likely to survive and reproduce. Charles Darwin is the name that most people associate with evolution. He spent many years studying species on the Galapagos Islands, where most of the evidence for his theories was found. He noticed differences in the finches on each island that seemed to reflect their diets. This gave him the idea that there may be some method of inheritance that allows individuals with certain desirable traits to pass them on to offspring. He wrote a book about his theories, The Origin of Species, in which he described this “natural selection.” Lamarck, an English scientist of the 1800s, was one of the pioneers in this concept of evolution. Before Lamarck, it was universally accepted in science that all organisms were static. In his novel proposal, Lamarck stated that any changes that occurred during the life of an individual would be passed on to its offspring. In his famous example, he described how this theory would apply to giraffes. Over time, horses would have stretched out their necks trying to reach for higher food. This change would accumulate over time to cause the characteristics we see today. Lamarck’s theory is clearly incorrect, but this new idea inspired many others to study the same concepts. There are countless species of organisms on this planet, including bacteria, animals, plants, and many other categories. How do scientists organize all this information? It is a daunting task that some people devote their lives to; these people study taxonomy, the classification of organisms. There exists a hierarchy of categories that all organisms fit into. This system creates a tree of organisms, with subcategories branching off of categories. Organisms that share a category have certain characteristics in common, such as cell structure. Using this system of taxonomy, each species on the planet can be given a unique name, called their binomial nomenclature. This Latin term simply means that a name consisting of two parts is given to them. The first is the genus to which the species belongs, while the second is the name of the species. These are also called the scientific names of organisms because they are used as a standard name in science. If binomial nomenclature did not exist, then scientists from different countries would have different names for the same organism, causing unnecessary confusion. In fact, you have probably heard many of these binomial nomenclatures; the name given to humans is Homo sapiens! Punnett squares are diagrams that are used to predict the result of the breeding of two organisms. In the square, one maternal allele is crossed with one paternal allele for the same trait, and the resulting cross is determined inside the square. From the results of the Punnett Square, scientists can accurately determine the relative probability of each trait being passed down to the offspring. The squares are best exemplified by Gregor Mendel’s pea plant heredity experiment because the results are also referred to as Mendelian Inheritances. There are two different types of Punnett Squares, monohybrid cross and dihybrid cross. A monohybrid cross is used when the trait that is being crossed has alleles in the form of BB, Bb, or bb. This type of cross is a 2 x 2 square, and there are 4 outcomes from the cross. More often than not (75%), the phenotype for the offspring is going to express the dominant allele for the trait. A dihybrid cross is when 2 independent traits get crossed in the same Punnett Square. This means that there are 16 outcomes in the resulting cross. Often this type of cross is only used when there exist 2 traits that are being studied concurrently and are independent of each other. No other times are suitable for using the dihybrid cross. Both types of squares have results consistent with Mendelian Inheritance patterns. The diets of humans have improved drastically since the first records of Australopithecus diets were released. Our eldest ancestors, even dating back to primates, typically ate a diet that consisted of fruits, nuts, and berries. People were scavengers back then, and their bodies were more adept to eating objects that we wouldn’t consider eating today. They still ate eggs, insects, and small animals, but their meat consumption is far below what it is today. Hominids from as early as 3.9 million years ago have shown signs that they created tools and ate meat. Ancient humans consumed significantly more protein and vitamins than we do at the present. They ate whatever was available to them, and that allowed them to survive and evolve into us Homo sapiens today. There are organs found in the body today that are completely unused, these are referred to as vestigial organs. These vestiges are remnants of highly used organs that our ancestors used to eat their food. The appendix is considered a vestigial organ because it was at one point used to grind up the bones consumed during a meal. Hominids would eat a lot of raw meat and animal bones, and the appendix would crush up those bones. Wisdom teeth are also vestiges because they were used to grind up plant cellulose. Now, human jaws and diets have adapted so that these organs are no longer necessary. However, they still exist in the body currently. The evolution of diets helped speed up the development of humans, and there are still remnants of how we used to be present in us today. Disease can often affect evolution through means of natural selection. There are many example of this throughout human history, where people with certain phenotypes are more likely to survive an epidemic. In Africa, where a disease called malaria is devastating many communities, the presence of a genetic mutation called sickle-cell anemia is on the rise. Sickle-cell anemia causes the blood cells to be misshapen and not function correctly. An individual who is homozygous for this trait will have serious healthy complications; however, an individual who is heterozygous for this trait will have half sicklecells and half normal cells. It turns out that these heterozygotes are immune to malaria because there are not enough healthy blood cells present for malaria to infect. Through the force of natural selection, this disease has changed the course of evolution! Malaria is caused by a parasite transmitted from the bite of a mosquito. Symptoms include: fever, fatigue, headaches, and death in severe cases. In the cases where a disease is caused by another organism, such as a bacterial infection, it is possible for their evolution to be affected as well! Bacteria that live in our body do not want to cause harm; in fact, they would rather live in symbiosis with us, getting their nutrients without having to fight our immune system. Because of this, phenotypes of bacteria that do not hurt us are naturally selected for. Over time, this causes the symptoms of a disease to weaken. For example, the respiratory disease Tuberculosis used to be a gruesome and fatal disease that affected all parts of the body. Today, these bacteria live exclusively in the lungs for most cases. Immigration is the entrance of new individuals into a population. This process can bring many new things into a community that could potentially change the course of evolution, such as genetic mutations, disease, or competition. When analyzing population dynamics, immigration is often grouped with births because both of these cause an increase in population. The introduction of new species to an environment can cause drastic changes in any aspect from geology to food availability. In the famous example at Yellowstone National Park, grey wolves were reintroduced into the park in order to control the elk population. By reducing the population of elk, they reduced the stress on the willow tree population, thinking that this would increase the population. However, the wolves were also eating the beaver that were redirecting the flow of water from the river with their dams. Now the willow trees do not have enough water! Aside from the ecological repercussions, the new population of wolves is attacking the livestock in nearby ranches. A species can be invasive if it adversely affects the ecosystem that it immigrates to. The carpenter ant was accidentally introduced to the Southern United States when a crate infested with them was brought overseas on a ship. Today, the population of ants is rapidly increasing as they infest and destroy buildings. Emigration is the converse of immigration; individuals that emigrate from a population are leaving that area and moving somewhere else. Emigration is often coupled with deaths to give a total population decrease when analyzing population dynamics. Emigration primarily affects evolution through genetic drift, where the gene pool is changes due to circumstance in a small population. In a process called the founder effect, a small population may emigrate to an area where a this species is not already established. The gene pool in this new area will be very volatile because of its remoteness from the original population and the random chance factor of which individuals did the emigrating. For example, the diagram to the right shows an example of the founder effect, where a small population crosses the river and reproduces there. By random chance, this small population happened to have more red individuals than blue. Because of this, the gene pool of the new population is significantly different from the original. Paleoanthropology is the study of our distant ancestors from millions of years ago, when humans looked more like primates than Homo sapiens. Scientists are discovering how humans evolved from apes in the same way that they learn about dinosaurs: by digging up fossils and analyzing them in many different ways. One of the oldest and most famous fossils of an early human was found in 1974 in Ethiopia (see map). This skeleton was named “Lucy” after the Beatles song “Lucy in the Sky with Diamonds.” By studying her bones, scientists could infer a few things about her life: Lucy had long arms and ape-like facial features, along with an ape-sized brain; however, her pelvis and knee structure show that she walked upright on two legs. Neanderthal is a term used to describe the early man, caught between a human and an ape. Most people think of these people as cavemen, sitting around their campfires living without emotions or technology. Recent evidence shows that there may be more to Neanderthals than we expected. Scientists have found a fossilized skeleton of a primitive man with serious damage to his face and skull. Although this man would have been crippled and possibly paralyzed by this incident, his skeleton suggests that he lived about 40-50 years, a ripe old age for this time period. How could he have survived in his condition? Perhaps some younger individuals took care of the man, suggesting that these supposedly primitive people had a sense of community and were capable of helping one another. The brain of our ancient ancestors was quite different from our brains today. Brains in ancient times were not much larger than those of a chimpanzee or gorilla. The growth of the brain is often attributed to a neurological process called neuroplasticity. When a brain becomes more complex because of new experiences, it requires the neuronal connections to constantly be rearranged. This constant reorganization of the synapses causes the brain to grow and take up more room in the cranium. The skull will also evolve and expand with the brain. This is why the head shape of ancient humans is different from the way it is now. As time goes on and the brain rewires itself again and again, future generations of people will have different shaped heads. Sociobiology, a subset of evolutionary biology, looks into the assumption that behavior is a result of evolution. The social behavior of ancient hominids, specifically in their rituals, fights, hunts, and societies, is the primary area covered by sociobiologists. As an organism grows and evolves, certain behavioral traits get passed on from generation to generation, each time getting honed by natural selection. For example, ancient hominids did not have the knowledge or the behavioral traits to perform the complex mating rituals (now called dating) that Homo sapiens go through in everyday lifestyles. The mindset that we get in when we like someone is different from the mindset of a Homo habilis when he/she liked another hominid. As time went on, the ones that exhibited the more favorable traits survived because of natural selection. With the natural selection of the stronger genes wiping out the weaker genes out of the gene pool, the weaker ones that survive need to exist in a metaphorical ecological balance. This means that in the case where there is a sudden expansion of altruistic traits, there is an equal expansion of traits that are dependent on those initial traits to survive. Instinctive and intuitive behaviors, being more like a “go getter” than a “follower,” are more likely to survive because of both altruism and sociobiology. Many scientists believe that social behaviors evolve sort of like adaptations, where the more protective and assertive social traits survived. One of the greatest biological acheivements in the past 30 years was the Human Genome Project. First proposed by the Reagan Administration in 1987, the goal of the project was to accomplish something never before done in the history of humanity: sequencing the genome of a human, comprising every single gene and protein found in the body of an individual . Think this is an easy task? Guess again! There are over 20,000 known genes in the body that needed to be identified and sequenced. On top of that, there were also billions of nucleotides needing to be sequenced! This was of great importance to science because the results would allow people to better understand many diseases associated with the human body. The entire project itself spanned 13 years from 1990 to 2003. It cost over $3 billion and was 99.99% accurate to the average human genome! Since the first sequencing of the genome was completed in 2003, technology has advanced to the point that a complete sequencing can now be done for as little as $10,000 in just 3 months. The project has provided many people with crucial information that has led to many important discoveries in the last few years. Scientists and doctors who had access to the findings from an online database were able to use the information for diagnosing and discovering new genes and technologies that have already saved countless lives. With many more new technologies still in clinical trials, and novel oncogenes (genes which lead to cancer) still lying inert in the body, the genome project will continue to pay dividends for years to come. Since its completion in 2003…. - 1,800 new disease genes have been discovered - 2,000 new genetic tests have been created - 350 new biotechnology devices have been designed - Malignant genes in inherited diseases have been discovered 128 times faster - 2 new diseases have been completely identified Phenotype – n. the set of observable characteristics of an individual resulting from the interaction of its genotype with the environment. Epidemic – n. a widespread occurrence of an infectious disease in a community at a particular time. Sickle-cell anemia – n. a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. It is commonest among those of African descent. Heterozygous – adj. having two different alleles of a particular gene or genes, and so giving rise to varying offspring. Homozygous – adj. having two identical alleles of a particular gene or genes and so breeding true for the corresponding characteristic Malaria – n. an intermittent and remittent fever caused by a parasite that invades the red blood cells and is transmitted by mosquitoes in many tropical and subtropical regions. The parasite belongs to the genus Plasmodium (phylum Sporozoa) and is transmitted by female mosquitoes of the genus Anopheles Tuberculosis – n. an infectious bacterial disease characterized by the growth of nodules (tubercles) in the tissues, especially the lungs. The disease is caused by the bacterium Mycobacterium tuberculosis Natural selection – n. the process whereby organisms better adapted to their environment tend to survive and produce more offspring. The theory of its action was first fully expounded by Charles Darwin, and it is now regarded as be the main process that brings about evolution. Taxonomy – n. the branch of science concerned with classification, especially of organisms; systematics. Binomial nomenclature – n. the system of nomenclature in which two terms are used to denote a species of living organism, the first one indicating the genus and the second the specific epithet. Paleoanthropology – n. the branch of anthropology concerned with fossil hominids. Neanderthal – n. an extinct species of human that was widely distributed in ice-age Europe between circa 120,000 and 35,000 years ago, with a receding forehead and prominent brow ridges. The Neanderthals were associated with the Mousterian flint industry of the Middle Palaeolithic. Nucleotide – n: any group of molecules that form the building blocks of DNA and RNA when linked together. They comprise a phosphate group, the bases (adenine, cytosine, guanine, and thymine), and a pentose sugar. Genome – n: a full set of chromosomes; all the inheritable traits of an organism. Allele – n: any of several forms of a gene, usually arising as a result of a mutation, that is responsible for hereditary variation in an organism. Neuroplasticity – n: the ability of the nervous system to restore, strengthen, or rearrange neuronal connections after a stimulus or brain injury Synapse – n: a region where nerve impulses are transmitted and received. This encompasses the axon terminal of a neuron that releases neurotransmitters in response to an impulse along with the gap where neurotransmitters travel, the adjacent membrane of an axon, and the dendrite. Vestige – n: a degenerate or imperfectly developed organ or structure that has little or no utility. However, this organ was used in preceding evolutionary forms of the organism for useful functions. Sociobiology – n: the study of social behavior in animals with emphasis on the role of behavior in survival and reproduction. Epigenetics – n: the study of heritable changes that occur without a change in the DNA sequence. Mutation – n: the sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or chromosome. Genetics – n: the science of heredity, dealing with resemblances and differences of related organisms resulting from the interaction of their genes and the environment. Melody Spencer Melody is a 17-year-old student at the Mass Academy of Math and Science. She lives in West Brookfield, MA with her parents and younger brother. With a passion for both computer science and biology, she hopes to find a career that combines the two, such as bioinformatics. Aside from academics, she enjoys long-distance running and art. She also works as a page at her local library. Gregory Konar Gregory is a 17-year-old student at Mass Academy. He lives in Marlborough, MA with his parents and sister. He is a 2-time International Science Fair participant in the category of Medicine and Health Sciences. He is extremely passionate about cancer biology, and he hopes to find a career in cancer biological research. Outside of school, he enjoys hiking, hurdling, and playing music. He will be volunteering at UMASS Cancer Biology labs this summer. He also umpires in Metrowest for girls’ softball. Cover : http://www.learner.org/courses/biology/images/archive/fullsize/1678_fs.jpg http://creatia2013.wordpress.com/2013/03/12/dna-is-like-a-computer-program-but-far-farmore-advanced-than-any-software-weve-ever-created-bill-gates/ http://physicsandcake.files.wordpress.com/2010/02/neurons.jpg http://yellowscene.com/wp-content/uploads/2009/02/caveart1.jpg Human Evolution http://sciencebasedlife.wordpress.com/2010/12/18/ten-consequences-of-human-evolution/ http://en.wikipedia.org/wiki/Homo_floresiensis http://room42.wikispaces.com/Savanna+Geography http://camprrm.com/2009/09/doublelake-campground/ Genetics http://www.chrismadden.co.uk/cartoon-gallery/genetics-cartoon-the-printer-in-a-geneticslaboratory-printing-out-with-the-paper-forming-a-double-helix-spiral/ http://ghr.nlm.nih.gov/handbook/basics/dna Mutation http://www.cartoonstock.com/directory/g/genetic_mutation.asp http://www.pbs.org/wgbh/nova/body/epigenetics.html Natural Selection http://www.techapps.net/interactives/pepperMoths.swf Darwin and Lamarck http://davidguilbault.typepad.com/such_is_life_by_david_gui/2009/02/darwins-finches.html http://galapagosonline.wordpress.com/2011/09/15/charles-darwin-in-galapagos/ http://morriscourse.com/myths_of_evolution/myths_of_evolution.htm http://www.learner.org/courses/biology/images/archive/fullsize/1678_fs.jpg Taxonomy http://biologicalexceptions.blogspot.com/2012/08/lions-and-tigers-and-ligers-oh-my.html Punnett Squares http://www.bio200.buffalo.edu/labs/heritability.html http://www.biology.arizona.edu/mendelian_genetics/problem_sets/dihybrid_cross/03t.html Evolution of Diet http://www.webmd.com/digestive-disorders/picture-of-the-appendix http://www.ironlady2015.com/the-athletes-kitchen/ Evolution and Disease http://www.petridish.org/projects/developing-a-treatment-for-sickle-cell-anemia http://www.umaa.org/ http://textbookofbacteriology.net/tuberculosis.html Immigration http://www.fcps.edu/islandcreekes/ecology/carpenter_ant.htm http://www.atlanticpestsolutions.net/wp-content/uploads/2011/10/carpenter-ant-damage1.jpg https://upload.wikimedia.org/wikipedia/commons/thumb/f/f5/Howlsnow.jpg/220pxHowlsnow.jpg Emigration http://www.gnutext.com/Anth_Phys/Anth_Phys_2/Evolution.html http://click4biology.info/c4b/5/images/5.3/Pop-size.gif Paleoanthropology http://www.arthursclipart.org/southafrica/people%20and%20places/early%20man.gif http://en.wikipedia.org/wiki/Lucy_(Australopithecus) http://upload.wikimedia.org/wikipedia/commons/thumb/7/7f/Ethiopia_in_Africa_(mini_map_-rivers).svg/1084px-Ethiopia_in_Africa_(-mini_map_-rivers).svg.png Brain http://www.brainline.org/content/2009/02/ask-expert-what-neuroplasticity.html http://www.theamericanbookofthedead.com/2010/09/08/mind-evolution/ Behavior http://webspace.ship.edu/cgboer/sociobiology.html http://en.wikipedia.org/wiki/File:Ethology_diversity.jpg Genome http://www.life.illinois.edu/ib/494/genome.html