Humans are the only extant members of the subtribe Hominina. Together with chimpanzees and orangutans, they are part of the family Hominidae. A terrestrial animal, humans are characterized by their erect bipedal locomotion. Early hominins—particularly the australopithecines, whose brains and anatomy are in many ways more similar to ancestral non-human apes—are less referred to as "human" than hominins of the genus Homo. Several of these hominins used fire, occupied much of Eurasia, gave rise to anatomically modern Homo sapiens in Africa about 315,000 years ago. Humans began to exhibit evidence of behavioral modernity around 50,000 years ago, in several waves of migration, they ventured out of Africa and populated most of the world; the spread of the large and increasing population of humans has profoundly affected much of the biosphere and millions of species worldwide. Advantages that explain this evolutionary success include a larger brain with a well-developed neocortex, prefrontal cortex and temporal lobes, which enable advanced abstract reasoning, problem solving and culture through social learning.
Humans use tools better than any other animal. Humans uniquely use such systems of symbolic communication as language and art to express themselves and exchange ideas, organize themselves into purposeful groups. Humans create complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established an wide variety of values, social norms, rituals, which together undergird human society. Curiosity and the human desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, mythology, religion and numerous other fields of knowledge. Though most of human existence has been sustained by hunting and gathering in band societies many human societies transitioned to sedentary agriculture some 10,000 years ago, domesticating plants and animals, thus enabling the growth of civilization; these human societies subsequently expanded, establishing various forms of government and culture around the world, unifying people within regions to form states and empires.
The rapid advancement of scientific and medical understanding in the 19th and 20th centuries permitted the development of fuel-driven technologies and increased lifespans, causing the human population to rise exponentially. The global human population was estimated to be near 7.7 billion in 2015. In common usage, the word "human" refers to the only extant species of the genus Homo—anatomically and behaviorally modern Homo sapiens. In scientific terms, the meanings of "hominid" and "hominin" have changed during the recent decades with advances in the discovery and study of the fossil ancestors of modern humans; the clear boundary between humans and apes has blurred, resulting in now acknowledging the hominids as encompassing multiple species, Homo and close relatives since the split from chimpanzees as the only hominins. There is a distinction between anatomically modern humans and Archaic Homo sapiens, the earliest fossil members of the species; the English adjective human is a Middle English loanword from Old French humain from Latin hūmānus, the adjective form of homō "man."
The word's use as a noun dates to the 16th century. The native English term man can refer to the species as well as to human males, or individuals of either sex; the species binomial "Homo sapiens" was coined by Carl Linnaeus in his 18th-century work Systema Naturae. The generic name "Homo" is a learned 18th-century derivation from Latin homō "man," "earthly being"; the species-name "sapiens" means "wise" or "sapient". Note that the Latin word homo refers to humans of either gender, that "sapiens" is the singular form; the genus Homo evolved and diverged from other hominins in Africa, after the human clade split from the chimpanzee lineage of the hominids branch of the primates. Modern humans, defined as the species Homo sapiens or to the single extant subspecies Homo sapiens sapiens, proceeded to colonize all the continents and larger islands, arriving in Eurasia 125,000–60,000 years ago, Australia around 40,000 years ago, the Americas around 15,000 years ago, remote islands such as Hawaii, Easter Island and New Zealand between the years 300 and 1280.
The closest living relatives of humans are gorillas. With the sequencing of the human and chimpanzee genomes, current estimates of similarity between human and chimpanzee DNA sequences range between 95% and 99%. By using the technique called a molecular clock which estimates the time required for the number of divergent mutations to accumulate between two lineages, the approximate date for the split between lineages can be calculated; the gibbons and orangutans were the first groups to split from the line leading to the h
A chromosome is a deoxyribonucleic acid molecule with part or all of the genetic material of an organism. Most eukaryotic chromosomes include packaging proteins which, aided by chaperone proteins, bind to and condense the DNA molecule to prevent it from becoming an unmanageable tangle. Chromosomes are visible under a light microscope only when the cell is undergoing the metaphase of cell division. Before this happens, every chromosome is copied once, the copy is joined to the original by a centromere, resulting either in an X-shaped structure if the centromere is located in the middle of the chromosome or a two-arm structure if the centromere is located near one of the ends; the original chromosome and the copy are now called sister chromatids. During metaphase the X-shape structure is called a metaphase chromosome. In this condensed form chromosomes are easiest to distinguish and study. In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation.
Chromosomal recombination during meiosis and subsequent sexual reproduction play a significant role in genetic diversity. If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe; this will make the cell initiate apoptosis leading to its own death, but sometimes mutations in the cell hamper this process and thus cause progression of cancer. Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. Others use the concept in a narrower sense, to refer to the individualized portions of chromatin during cell division, visible under light microscopy due to high condensation; the word chromosome comes from the Greek χρῶμα and σῶμα, describing their strong staining by particular dyes. The term was coined by von Waldeyer-Hartz, referring to the term chromatin, introduced by Walther Flemming; some of the early karyological terms have become outdated.
For example and Chromosom, both ascribe color to a non-colored state. The German scientists Schleiden, Virchow and Bütschli were among the first scientists who recognized the structures now familiar as chromosomes. In a series of experiments beginning in the mid-1880s, Theodor Boveri gave the definitive demonstration that chromosomes are the vectors of heredity, it is the second of these principles, so original. Wilhelm Roux suggested. Boveri was able to confirm this hypothesis. Aided by the rediscovery at the start of the 1900s of Gregor Mendel's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. Boveri influenced two generations of American cytologists: Edmund Beecher Wilson, Nettie Stevens, Walter Sutton and Theophilus Painter were all influenced by Boveri. In his famous textbook The Cell in Development and Heredity, Wilson linked together the independent work of Boveri and Sutton by naming the chromosome theory of inheritance the Boveri–Sutton chromosome theory.
Ernst Mayr remarks that the theory was hotly contested by some famous geneticists: William Bateson, Wilhelm Johannsen, Richard Goldschmidt and T. H. Morgan, all of a rather dogmatic turn of mind. Complete proof came from chromosome maps in Morgan's own lab; the number of human chromosomes was published in 1923 by Theophilus Painter. By inspection through the microscope, he counted 24 pairs, his error was copied by others and it was not until 1956 that the true number, 46, was determined by Indonesia-born cytogeneticist Joe Hin Tjio. The prokaryotes – bacteria and archaea – have a single circular chromosome, but many variations exist; the chromosomes of most bacteria, which some authors prefer to call genophores, can range in size from only 130,000 base pairs in the endosymbiotic bacteria Candidatus Hodgkinia cicadicola and Candidatus Tremblaya princeps, to more than 14,000,000 base pairs in the soil-dwelling bacterium Sorangium cellulosum. Spirochaetes of the genus Borrelia are a notable exception to this arrangement, with bacteria such as Borrelia burgdorferi, the cause of Lyme disease, containing a single linear chromosome.
Prokaryotic chromosomes have less sequence-based structure than eukaryotes. Bacteria have a one-point from which replication starts, whereas some archaea contain multiple replication origins; the genes in prokaryotes are organized in operons, do not contain introns, unlike eukaryotes. Prokaryotes do not possess nuclei. Instead, their DNA is organized into a structure called the nucleoid; the nucleoid occupies a defined region of the bacterial cell. This structure is, dynamic and is maintained and remodeled by the actions of a range of histone-like proteins, which associate with the bacterial chromosome. In archaea, the DNA in chromosomes is more organized, with the DNA packaged within structures similar to eukaryotic nucleosomes. Certain bacteria contain plasmids or other extrachromosomal DNA; these are circular structures in the cytoplasm that contain cellular DNA and play a role in horizontal gene transfer. In prokaryotes and viruses, the DNA is densely packed and organized.
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People have two copies of this chromosome. Chromosome 15 spans about 101 million base pairs and represents between 3% and 3.5% of the total DNA in cells. The human leukocyte antigen gene for β2-microglobulin is found at chromosome 15; the following are some of the gene count estimates of human chromosome 15. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. Among various projects, the collaborative consensus coding sequence project takes an conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes; the following is a partial list of genes on human chromosome 15. For complete list, see the link in the infobox on the right; the following conditions are caused by mutations in chromosome 15. Two of the conditions involve a loss of gene activity in the same part of chromosome 15, the 15q11.2-q13.1 region.
This discovery provided the first evidence in humans that something beyond genes could determine how the genes are expressed. The main characteristics of Angelman syndrome are severe mental retardation, lack of speech, excessively happy demeanor. Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region; this region contains a gene called UBE3A that, when mutated or absent causes the characteristic features of this condition. People have two copies of the UBE3A gene, one from each parent. Both copies of this gene are active in many of the body's tissues. In the brain, only the copy inherited from a person's mother is active. If the maternal copy is lost because of a chromosomal change or a gene mutation, a person will have no working copies of the UBE3A gene in the brain. In most cases, people with Angelman syndrome have a deletion in the maternal copy of chromosome 15; this chromosomal change deletes the region of chromosome 15. Because the copy of the UBE3A gene inherited from a person's father is inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain.
In 3% to 7% of cases, Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. This phenomenon is called paternal uniparental disomy. People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. In a small percentage of cases, Angelman syndrome may be caused by a chromosomal rearrangement called a translocation or by a mutation in a gene other than UBE3A; these genetic changes can abnormally inactivate the UBE3A gene. Angelman syndrome can be hereditary, as evidenced by one case where a patient became pregnant with a daughter who had the condition; the main characteristics of this condition include polyphagia, mild to moderate developmental delay, hypogonadism resulting in delayed to no puberty, hypotonia.
Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. People have two copies of this chromosome in each cell, one copy from each parent. Prader-Willi syndrome occurs when the paternal copy is or missing. In about 70% of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted; the genes in this region are active on the paternal copy of the chromosome and are inactive on the maternal copy. Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. In about 25% of cases, a person with Prader-Willi syndrome has two maternal copies of chromosome 15 in each cell instead of one copy from each parent; this phenomenon is called maternal uniparental disomy. Because some genes are active only on the paternal copy of this chromosome, a person with two maternal copies of chromosome 15 will have no active copies of these genes. In a small percentage of cases, Prader-Willi syndrome is not caused by a chromosomal rearrangement called a trans location.
The condition is caused by an abnormality in the DNA region that controls the activity of genes on the paternal chromosome 15. Because patients always have difficulty reproducing, Prader-Willi syndrome is not hereditary. A specific chromosomal change called an isodicentric chromosome 15 can affect growth and development; the patient possesses an "extra" or "marker" chromosome. This small extra chromosome is made up of genetic material from chromosome 15, abnormally duplicated and attached end-to-end. In some cases, the extra chromosome is small and has no effect on a person's health. A larger isodicentric chromosome 15 can result in weak muscle tone, mental retardation and behavioral problems. Signs and symptoms of autism have been associated with the presence of an isodicentric chromosome 15. Other changes in the number or structure of chromosome 15 can cause mental retardation, delayed growth and development and characteristic facial features