Gene in the context of "Gene Ontology"

Biology is the scientific study of life and living organisms. It is a broad natural science that encompasses a wide range of fields and unifying principles that explain the structure, function, growth, origin, evolution, and distribution of life. Central to biology are five fundamental themes: the cell as the basic unit of life, genes and heredity as the basis of inheritance, evolution as the driver of biological diversity, energy transformation for sustaining life processes, and the maintenance of internal stability (homeostasis).

Biology examines life across multiple levels of organization, from molecules and cells to organisms, populations, and ecosystems. Subdisciplines include molecular biology, physiology, ecology, evolutionary biology, developmental biology, and systematics, among others. Each of these fields applies a range of methods to investigate biological phenomena, including observation, experimentation, and mathematical modeling. Modern biology is grounded in the theory of evolution by natural selection, first articulated by Charles Darwin, and in the molecular understanding of genes encoded in DNA. The discovery of the structure of DNA and advances in molecular genetics have transformed many areas of biology, leading to applications in medicine, agriculture, biotechnology, and environmental science.

Archaea (/ɑːrˈkiːə/ ar-KEE-ə) is a domain of organisms. Traditionally, Archaea included only its prokaryotic members, but has since been found to be paraphyletic, as eukaryotes are known to have evolved from archaea. Even though the domain Archaea cladistically includes eukaryotes, the term archaea (sing. archaeon /ɑːrˈkiːɒn/ ar-KEE-on; from Ancient Greek ἀρχαῖον arkhaîon 'ancient') in English still generally refers specifically to prokaryotic members of Archaea. Archaea were initially classified as bacteria, receiving the name archaebacteria (/ˌɑːrkibækˈtɪəriə/, in the Archaebacteria kingdom), but this term has fallen out of use. Archaeal cells have unique properties separating them from Bacteria and Eukaryota, including: cell membranes made of ether-linked lipids; metabolisms such as methanogenesis; and a unique motility structure known as an archaellum. Archaea are further divided into multiple recognized phyla. Classification is difficult because most have not been isolated in a laboratory and have been detected only by their gene sequences in environmental samples. It is unknown if they can produce endospores.

Archaea are often similar to bacteria in size and shape, although a few have very different shapes, such as the flat, square cells of Haloquadratum walsbyi. Despite this, archaea possess genes and several metabolic pathways that are more closely related to those of eukaryotes, notably for the enzymes involved in transcription and translation. Other aspects of archaeal biochemistry are unique, such as their reliance on ether lipids in their cell membranes, including archaeols. Archaea use more diverse energy sources than eukaryotes, ranging from organic compounds such as sugars, to ammonia, metal ions or even hydrogen gas. The salt-tolerant Halobacteria use sunlight as an energy source, and other species of archaea fix carbon (autotrophy), but unlike cyanobacteria, no known species of archaea does both. Archaea reproduce asexually by binary fission, fragmentation, or budding; unlike bacteria, no known species of Archaea form endospores. The first observed archaea were extremophiles, living in extreme environments such as hot springs and salt lakes with no other organisms. Improved molecular detection tools led to the discovery of archaea in almost every habitat, including soil, oceans, and marshlands. Archaea are particularly numerous in the oceans, and the archaea in plankton may be one of the most abundant groups of organisms on the planet.

Human nature comprises the fundamental dispositions and characteristics—including ways of thinking, feeling, and acting—that humans are said to have naturally. The term is often used to denote the essence of humankind; however, this usage has proven to be controversial in that there is dispute as to whether or not such an essence actually exists.

Arguments about human nature have been a central focus of philosophy for centuries and the concept continues to provoke lively philosophical debate. While both concepts are distinct from one another, discussions regarding human nature are typically related to those regarding the comparative importance of genes and environment in human development (i.e., nature versus nurture). Accordingly, the concept also continues to play a role in academic fields, such as both the natural and the social sciences, and philosophy, in which various theorists claim to have yielded insight into human nature. Human nature is traditionally contrasted with human attributes that vary among societies, such as those associated with specific cultures.

Reproduction (or procreation or breeding) is the biological process by which new individual organisms – "offspring" – are produced from their "parent" or parents. There are two forms of reproduction: asexual and sexual.

In asexual reproduction, an organism can reproduce without the involvement of another organism. Asexual reproduction is not limited to single-celled organisms. The cloning of an organism is a form of asexual reproduction. By asexual reproduction, an organism creates a genetically similar or identical copy of itself. The evolution of sexual reproduction is a major puzzle for biologists. The two-fold cost of sexual reproduction is that only 50% of organisms reproduce and organisms only pass on 50% of their genes.

Domestication is a multi-generational mutualistic relationship in which an animal species, such as humans or leafcutter ants, takes over control and care of another species, such as sheep or fungi, to obtain from them a steady supply of resources, such as meat, milk, or labor. The process is gradual and geographically diffuse, based on trial and error. Domestication affected genes for behavior in animals, making them less aggressive. In plants, domestication affected genes for morphology, such as increasing seed size and stopping the shattering of cereal seedheads. Such changes both make domesticated organisms easier to handle and reduce their ability to survive in the wild.

The first animal to be domesticated by humans was the dog, as a commensal, at least 15,000 years ago. Other animals, including goats, sheep, and cows, were domesticated around 11,000 years ago. Among birds, the chicken was first domesticated in East Asia, seemingly for cockfighting, some 7,000 years ago. The horse came under domestication around 5,500 years ago in central Asia as a working animal. Among invertebrates, the silkworm and the western honey bee were domesticated over 5,000 years ago for silk and honey, respectively.

Grafting or graftage is a horticultural technique whereby tissues of plants are joined so as to continue their growth together. The upper part of the combined plant is called the scion (/ˈsaɪən/) while the lower part is called the rootstock. The success of this joining requires that the vascular tissues grow together. The natural equivalent of this process is inosculation. The technique is most commonly used in asexual propagation of commercially grown plants for the horticultural and agricultural trades. The scion is typically joined to the rootstock at the soil line; however, top work grafting may occur far above this line, leaving an understock consisting of the lower part of the trunk and the root system.

In most cases, the stock or rootstock is selected for its roots and the scion is selected for its stems, leaves, flowers, or fruits. The scion contains the desired genes to be duplicated in future production by the grafted plant.

Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an organism's genes using technology. It is a set of technologies used to change the genetic makeup of cells, including the transfer of genes within and across species boundaries to produce improved or novel organisms. New DNA is obtained by either isolating and copying the genetic material of interest using recombinant DNA methods or by artificially synthesising the DNA. A construct is usually created and used to insert this DNA into the host organism. The first recombinant DNA molecule was designed by Paul Berg in 1972 by combining DNA from the monkey virus SV40 with the lambda virus. As well as inserting genes, the process can be used to remove, or "knock out", genes. The new DNA can either be inserted randomly or targeted to a specific part of the genome.

An organism that is generated through genetic engineering is considered to be genetically modified (GM), and the resulting entity is a genetically modified organism (GMO). The first GMO was a bacterium generated by Herbert Boyer and Stanley Cohen in 1973. Rudolf Jaenisch created the first GM animal when he inserted foreign DNA into a mouse in 1974. The first company to focus on genetic engineering, Genentech, was founded in 1976 and began the production of human proteins. Genetically engineered human insulin was produced in 1978, and insulin-producing bacteria were commercialised in 1982. Genetically modified food has been sold since 1994, with the release of the Flavr Savr tomato. The Flavr Savr was engineered to have a longer shelf life, but most current GM crops are modified to increase resistance to insects and herbicides. GloFish, the first GMO designed as a pet, was sold in the United States in December 2003. In 2016, salmon modified with a growth hormone were sold.

Selective breeding (also called artificial selection) is the process by which humans use animal breeding and plant breeding to selectively develop particular phenotypic traits (characteristics) by choosing which typically animal or plant males and females will sexually reproduce and have offspring together. Domesticated animals are known as breeds, normally bred by a professional breeder, while domesticated plants are known as varieties, cultigens, cultivars, or breeds. Two purebred animals of different breeds produce a crossbreed, and crossbred plants are called hybrids. Flowers, vegetables and fruit-trees may be bred by amateurs and commercial or non-commercial professionals: major crops are usually the provenance of the professionals.

In animal breeding artificial selection is often combined with techniques such as inbreeding, linebreeding, and outcrossing. In plant breeding, similar methods are used. Charles Darwin discussed how selective breeding had been successful in producing change over time in his 1859 book, On the Origin of Species. Its first chapter discusses selective breeding and domestication of such animals as pigeons, cats, cattle, and dogs. Darwin used artificial selection as an analogy to propose and explain the theory of natural selection but distinguished the latter from the former as a separate process that is non-directed.

Common descent is a concept in evolutionary biology applicable when one species is the ancestor of two or more species later in time. According to modern evolutionary biology, all living beings could be descendants of a unique ancestor commonly referred to as the last universal common ancestor (LUCA) of all life on Earth.

Common descent is an effect of speciation, in which multiple species derive from a single ancestral population. The more recent the ancestral population two species have in common, the more closely they are related. The most recent common ancestor of all currently living organisms is the last universal ancestor, which lived about 3.9 billion years ago. The two earliest pieces of evidence for life on Earth are graphite found to be biogenic in 3.7 billion-year-old metasedimentary rocks discovered in western Greenland and microbial mat fossils found in 3.48 billion-year-old sandstone discovered in Western Australia. All currently living organisms on Earth share a common genetic heritage, though the suggestion of substantial horizontal gene transfer during early evolution has led to questions about the monophyly (single ancestry) of life. 6,331 groups of genes common to all living animals have been identified; these may have arisen from a single common ancestor that lived 650 million years ago in the Precambrian.

Genetic drift, also known as random genetic drift, allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance.

Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed.

In genetics, the phenotype (from Ancient Greek φαίνω (phaínō) 'to appear, show' and τύπος (túpos) 'mark, type') is the set of observable characteristics or traits of an organism. The term covers all traits of an organism other than its genome, however transitory: the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties whether reversible or irreversible, and all its behavior, from a peacock's display to the phone number you half remember. An organism's phenotype results from two basic factors: the expression of an organism's unique profile of genes (its genotype) and the influence of environmental factors experienced by that same organism which influence the variable expression of said genes, and thereby shape the resulting profile of defining traits. Since the developmental process is a complex interplay of gene-environment, gene-gene interactions, there is a high degree of phenotypic variation in a given population that extends beyond mere genotypic variation.

A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and again in his 1982 book The Extended Phenotype suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams as "extended phenotypes".

Protein biosynthesis, or protein synthesis, is a core biological process, occurring inside cells, balancing the loss of cellular proteins (via degradation or export) through the production of fresh proteins. Proteins perform a number of critical functions as enzymes, structural proteins or hormones. Protein synthesis is a very similar process for both prokaryotes and eukaryotes but there are some distinct differences.

Protein synthesis can be divided broadly into two phases: transcription and translation. During transcription, a section of DNA encoding a protein, known as a gene, is converted into a molecule called messenger RNA (mRNA). This conversion is carried out by enzymes, known as RNA polymerases, in the nucleus of the cell. In eukaryotes, this mRNA is initially produced in a premature form (pre-mRNA) which undergoes post-transcriptional modifications to produce mature mRNA. The mature mRNA is exported from the cell nucleus via nuclear pores to the cytoplasm of the cell for translation to occur. During translation, the mRNA is read by ribosomes which use the nucleotide sequence of the mRNA to determine the sequence of amino acids. The ribosomes catalyze the formation of covalent peptide bonds between the encoded amino acids to form a polypeptide chain.

A cell type is a classification used to identify cells that share morphological or phenotypical features. A multicellular organism may contain cells of a number of widely differing and specialized cell types, such as muscle cells and skin cells, that differ both in appearance and function yet have identical genomic sequences. Cells may have the same genotype, but belong to different cell types due to the differential regulation of the genes they contain. Classification of a specific cell type is often done through the use of microscopy (such as those from the cluster of differentiation family that are commonly used for this purpose in immunology). Recent developments in single cell RNA sequencing facilitated classification of cell types based on shared gene expression patterns. This has led to the discovery of many new cell types in e.g. mouse grey matter, hippocampus, dorsal root ganglion and spinal cord.

Animals have evolved a greater diversity of cell types in a multicellular body (100–150 different cell types), comparedwith 10–20 in plants, fungi, and protists. The exact number of cell types is, however, undefined, and the Cell Ontology, as of 2021, lists over 2,300 different cell types.

Gene expression is the process by which the information contained within a gene is used to produce a functional gene product, such as a protein or a functional RNA molecule. This process involves multiple steps, including the transcription of the gene's sequence into RNA. For protein-coding genes, this RNA is further translated into a chain of amino acids that folds into a protein, while for non-coding genes, the resulting RNA itself serves a functional role in the cell. Gene expression enables cells to utilize the genetic information in genes to carry out a wide range of biological functions. While expression levels can be regulated in response to cellular needs and environmental changes, some genes are expressed continuously with little variation.

A gene product is the biochemical material, either RNA or protein, resulting from the expression of a gene. A measurement of the amount of gene product is sometimes used to infer how active a gene is. Abnormal amounts of gene product can be correlated with disease-causing alleles, such as the overactivity of oncogenes, which can cause cancer.A gene is defined as "a hereditary unit of DNA that is required to produce a functional product". Regulatory elements include:

• Promoter region
• TATA box
• Polyadenylation sequences
• Enhancers

These elements work in combination with the open reading frame to create a functional product. This product may be transcribed and be functional as RNA or is translated from mRNA to a protein to be functional in the cell.

A non-coding RNA (ncRNA) is a functional RNA molecule that is not translated into a protein. The DNA sequence from which a functional non-coding RNA is transcribed is often called an RNA gene. Abundant and functionally important types of non-coding RNAs include transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs), as well as small RNAs such as microRNAs, siRNAs, piRNAs, snoRNAs, snRNAs, exRNAs, scaRNAs and the long ncRNAs such as Xist and HOTAIR.

The number of non-coding RNAs within the human genome is unknown; however, recent transcriptomic and bioinformatic studies suggest that there are thousands of non-coding transcripts. Many of the newly identified ncRNAs have unknown functions, if any. There is no consensus on how much of non-coding transcription is functional: some believe most ncRNAs to be non-functional "junk RNA", spurious transcriptions, while others expect that many non-coding transcripts have functions to be discovered.