The skull is a bony structure that forms the head in vertebrates. It provides a protective cavity for the brain; the skull is composed of two parts: the mandible. In the human, these two parts are the neurocranium and the viscerocranium or facial skeleton that includes the mandible as its largest bone; the skull forms the anterior most portion of the skeleton and is a product of cephalisation—housing the brain, several sensory structures such as the eyes, ears and mouth. In humans these sensory structures are part of the facial skeleton. Functions of the skull include protection of the brain, fixing the distance between the eyes to allow stereoscopic vision, fixing the position of the ears to enable sound localisation of the direction and distance of sounds. In some animals such as horned ungulates, the skull has a defensive function by providing the mount for the horns; the English word "skull" is derived from Old Norse "skulle", while the Latin word cranium comes from the Greek root κρανίον.
The skull is made up of a number of fused flat bones, contains many foramina, fossae and several cavities or sinuses. In zoology there are openings in the skull called fenestrae. For details and the constituent bones, see Neurocranium and Facial skeleton The human skull is the bony structure that forms the head in the human skeleton, it forms a cavity for the brain. Like the skulls of other vertebrates, it protects the brain from injury; the skull consists of two parts, of different embryological origin—the neurocranium and the facial skeleton. The neurocranium forms the protective cranial cavity that surrounds and houses the brain and brainstem; the upper areas of the cranial bones form the calvaria. The membranous viscerocranium includes the mandible; the facial skeleton is formed by the bones supporting the face Except for the mandible, all of the bones of the skull are joined together by sutures—synarthrodial joints formed by bony ossification, with Sharpey's fibres permitting some flexibility.
Sometimes there can be extra bone pieces within the suture known as sutural bones. Most these are found in the course of the lambdoid suture; the human skull is considered to consist of twenty-two bones—eight cranial bones and fourteen facial skeleton bones. In the neurocranium these are the occipital bone, two temporal bones, two parietal bones, the sphenoid and frontal bones; the bones of the facial skeleton are the vomer, two inferior nasal conchae, two nasal bones, two maxilla, the mandible, two palatine bones, two zygomatic bones, two lacrimal bones. Some sources count the maxilla as having two bones; some of these bones—the occipital, frontal, in the neurocranium, the nasal and vomer, in the facial skeleton are flat bones. The skull contains sinuses, air-filled cavities known as paranasal sinuses, numerous foramina; the sinuses are lined with respiratory epithelium. Their known functions are the lessening of the weight of the skull, the aiding of resonance to the voice and the warming and moistening of the air drawn into the nasal cavity.
The foramina are openings in the skull. The largest of these is the foramen magnum that allows the passage of the spinal cord as well as nerves and blood vessels; the many processes of the skull include the zygomatic processes. The skull is a complex structure; the skull roof bones, comprising the bones of the facial skeleton and the sides and roof of the neurocranium, are dermal bones formed by intramembranous ossification, though the temporal bones are formed by endochondral ossification. The endocranium, the bones supporting the brain are formed by endochondral ossification, thus frontal and parietal bones are purely membranous. The geometry of the skull base and its fossae, the anterior and posterior cranial fossae changes rapidly; the anterior cranial fossa changes during the first trimester of pregnancy and skull defects can develop during this time. At birth, the human skull is made up of 44 separate bony elements. During development, many of these bony elements fuse together into solid bone.
The bones of the roof of the skull are separated by regions of dense connective tissue called fontanelles. There are six fontanelles: one anterior, one posterior, two sphenoid, two mastoid. At birth these regions are fibrous and moveable, necessary for birth and growth; this growth can put a large amount of tension on the "obstetrical hinge", where the squamous and lateral parts of the occipital bone meet. A possible complication of this tension is rupture of the great cerebral vein; as growth and ossification progress, the connective tissue of the fontanelles is invaded and replaced by bone creating sutures. The five sutures are the two squamous sutures, one coronal, one lambdoid, one sagittal suture; the posterior fontanelle closes by eight weeks, but the anterior fontanel can remain open up to eighteen months. The anterior fontanelle is located at the junction of the parietal bones. Careful observation will show that you can count a baby's heart
The human eye is an organ which reacts to light and pressure. As a sense organ, the mammalian eye allows vision. Human eyes help to provide a three dimensional, moving image coloured in daylight. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth; the human eye can differentiate between about 10 million colors and is capable of detecting a single photon. Similar to the eyes of other mammals, the human eye's non-image-forming photosensitive ganglion cells in the retina receive light signals which affect adjustment of the size of the pupil and suppression of the hormone melatonin and entrainment of the body clock; the eye is not shaped like a perfect sphere, rather it is a fused two-piece unit, composed of the anterior segment and the posterior segment. The anterior segment is made up of the cornea and lens; the cornea is transparent and more curved, is linked to the larger posterior segment, composed of the vitreous, retina and the outer white shell called the sclera.
The cornea is about 11.5 mm in diameter, 1/2 mm in thickness near its center. The posterior chamber constitutes the remaining five-sixths; the cornea and sclera are connected by an area termed the limbus. The iris is the pigmented circular structure concentrically surrounding the center of the eye, the pupil, which appears to be black; the size of the pupil, which controls the amount of light entering the eye, is adjusted by the iris' dilator and sphincter muscles. Light energy enters the eye through the cornea, through the pupil and through the lens; the lens shape is controlled by the ciliary muscle. Photons of light falling on the light-sensitive cells of the retina are converted into electrical signals that are transmitted to the brain by the optic nerve and interpreted as sight and vision. Dimensions differ among adults by only one or two millimetres, remarkably consistent across different ethnicities; the vertical measure less than the horizontal, is about 24 mm. The transverse size of a human adult eye is 24.2 mm and the sagittal size is 23.7 mm with no significant difference between sexes and age groups.
Strong correlation has been found between the width of the orbit. The typical adult eye has an anterior to posterior diameter of 24 millimetres, a volume of six cubic centimetres, a mass of 7.5 grams.. The eyeball grows increasing from about 16–17 millimetres at birth to 22.5–23 mm by three years of age. By age 12, the eye attains its full size; the eye is made up of layers, enclosing various anatomical structures. The outermost layer, known as the fibrous tunic, is composed of the sclera; the middle layer, known as the vascular tunic or uvea, consists of the choroid, ciliary body, pigmented epithelium and iris. The innermost is the retina, which gets its oxygenation from the blood vessels of the choroid as well as the retinal vessels; the spaces of the eye are filled with the aqueous humour anteriorly, between the cornea and lens, the vitreous body, a jelly-like substance, behind the lens, filling the entire posterior cavity. The aqueous humour is a clear watery fluid, contained in two areas: the anterior chamber between the cornea and the iris, the posterior chamber between the iris and the lens.
The lens is suspended to the ciliary body by the suspensory ligament, made up of hundreds of fine transparent fibers which transmit muscular forces to change the shape of the lens for accommodation. The vitreous body is a clear substance composed of water and proteins, which give it a jelly-like and sticky composition; the approximate field of view of an individual human eye varies by facial anatomy, but is 30° superior, 45° nasal, 70° inferior, 100° temporal. For both eyes combined visual field is 200 ° horizontal, it is 13700 square degrees for binocular vision. When viewed at large angles from the side, the iris and pupil may still be visible by the viewer, indicating the person has peripheral vision possible at that angle. About 15° temporal and 1.5° below the horizontal is the blind spot created by the optic nerve nasally, 7.5° high and 5.5° wide. The retina has a static contrast ratio of around 100:1; as soon as the eye moves to acquire a target, it re-adjusts its exposure by adjusting the iris, which adjusts the size of the pupil.
Initial dark adaptation takes place in four seconds of profound, uninterrupted darkness. The process is nonlinear and multifaceted, so an interruption by light exposure requires restarting the dark adaptation process over again. Full adaptation is dependent on good blood flow; the human eye can detect a luminance range of 1014, or one hundred trillion, from 10−6 cd/m2, or one millionth of a candela per square meter to 108 cd/m2 or one hundred million candelas per square meter. This range does not include looking at the midday lightning discharge. At the low end o
In the developing chordate, the neural tube is the embryonic precursor to the central nervous system, made up of the brain and spinal cord. The neural groove deepens as the neural folds become elevated, the folds meet and coalesce in the middle line and convert the groove into the closed neural tube. In humans, neural tube closure occurs by the fourth week of pregnancy; the ectodermal wall of the tube forms the rudiment of the nervous system. The centre of the tube is the neural canal; the neural tube develops in two ways: secondary neurulation. Primary neurulation divides the ectoderm into three cell types: The internally located neural tube The externally located epidermis The neural crest cells, which develop in the region between the neural tube and epidermis but migrate to new locationsPrimary neurulation begins after the neural plate forms; the edges of the neural plate start forming the neural folds. The center of the neural plate remains allowing a U-shaped neural groove to form; this neural groove left sides of the embryo.
The neural folds pinch in towards the midline of the embryo and fuse together to form the neural tube. In secondary neurulation, the cells of the neural plate form a cord-like structure that migrates inside the embryo and hollows to form the tube; each organism uses secondary neurulation to varying degrees. Neurulation in fish proceeds only via the secondary form. In avian species the posterior regions of the tube develop using secondary neurulation and the anterior regions develop by primary neurulation. In mammals, secondary neurulation begins around the 35th somite. Mammalian neural tubes close in the head in the opposite order. In the head:Neural crest cells migrate Neural tube closes Overlying ectoderm closesIn the trunk:Overlying ectoderm closes Neural tube closes Neural crest cells migrate Four neural tube subdivisions each develop into distinct regions of the central nervous system by the division of neuroepithelial cells: the forebrain, the midbrain, the hindbrain and the spinal cord.
The prosencephalon further goes on to develop into the diencephalon. The mesencephalon stays as the midbrain; the rhombencephalon develops into the myelencephalon. For a short time, the neural tube is open both caudally; these openings, called neuropores, close during the fourth week in humans. Improper closure of the neuropores can result in neural tube defects such as anencephaly or spina bifida; the dorsal part of the neural tube contains the alar plate, associated with sensation. The ventral part of the neural tube contains the basal plate, associated with motor control; the neural tube patterns along the dorsal-ventral axis to establish defined compartments of neural progenitor cells that lead to distinct classes of neurons. According to the French flag model of morphogenesis, this patterning occurs early in development and results from the activity of several secreted signaling molecules. Sonic hedgehog is a key player in patterning the ventral axis, while bone morphogenic proteins and Wnt family members play an important role in patterning the dorsal axis.
Other factors shown to provide positional information to the neural progenitor cells include fibroblast growth factors and retinoic acid. Retinoic acid is required ventrally along with Shh to induce Pax6 and Olig2 during differentiation of motor neurons. Three main ventral cell types are established during early neural tube development: the floor plate cells, which form at the ventral midline during the neural fold stage; these cell types are specified by the secretion of the Shh from the notochord, from the floor plate cells. Shh acts as a morphogen, meaning that it acts in a concentration-dependent manner to specify cell types as it moves further from its source; the following is a proposed mechanism for how Shh patterns the ventral neural tube: A gradient of Shh that controls the expression of a group of homeodomain and basic Helix-Loop-Helix transcription factors is created. These transcription factors are grouped into two protein classes based on. Class I is inhibited by Shh; these two classes of proteins cross-regulate each other to create more-defined boundaries of expression.
The different combinations of expression of these transcription factors along the dorsal-ventral axis of the neural tube are responsible for creating the identity of the neuronal progenitor cells. Five molecularly distinct groups of ventral neurons form from these neuronal progenitor cells in vitro; the position at which these neuronal groups are generated in vivo can be predicted by the concentration of Shh required for their induction in vitro. Studies have shown that neural progenitors can evoke different responses based on the length of exposure to Shh, with a longer exposure time resulting in more ventral cell types. At the dorsal end of the neural tube, BMPs are responsible for neuronal patterning. BMP is secreted from the overlying ectoderm. A secondary signaling center is established in the roof plate, the dorsal most structure of the neural tube. BMP from the dorsal end of the neural tube seems to act in the same concentration-dependent manner as Shh in the ventral end; this was shown using zeb
The occipital bone is a cranial dermal bone and the main bone of the occiput. It is trapezoidal in shape and curved on itself like a shallow dish; the occipital bone overlies the occipital lobes of the cerebrum. At the base of skull in the occipital bone, there is a large oval opening called the foramen magnum, which allows the passage of the spinal cord. Like the other cranial bones, it is classed as a flat bone. Due to its many attachments and features, the occipital bone is described in terms of separate parts. From its front to the back is the basilar part called the basioccipital, at the sides of the foramen magnum are the lateral parts called the exoccipitals, the back is named as the squamous part; the basilar part is a thick, somewhat quadrilateral piece in front of the foramen magnum and directed towards the pharynx. The squamous part is the curved, expanded plate behind the foramen magnum and is the largest part of the occipital bone; the occipital bone, like the other seven cranial bones, has outer and inner layers of cortical bone tissue between, the cancellous bone tissue known in the cranial bones as diploë.
The bone is thick at the ridges, protuberances and anterior part of the basilar part. Near the middle of the outer surface of the squamous part of the occipital there is a prominence – the external occipital protuberance; the highest point of this is called the inion. From the inion, along the midline of the squamous part until the foramen magnum, runs a ridge – the external occipital crest and this gives attachment to the nuchal ligament. Running across the outside of the occipital bone are three curved lines and one line that runs down to the foramen magnum; these are known as the nuchal lines which give attachment to various muscles. They are named as the highest and inferior nuchal lines; the inferior nuchal line runs across the midpoint of the medial nuchal line. The area above the highest nuchal line is termed the occipital plane and the area below this line is termed the nuchal plane; the inner surface of the occipital bone forms the base of the posterior cranial fossa. The foramen magnum is a large hole situated in the middle, with the clivus, a smooth part of the occipital bone travelling upwards in front of it.
The median internal occipital crest travels behind it to the internal occipital protuberance, serves as a point of attachment to the falx cerebri. To the sides of the foramen sitting at the junction between the lateral and base of the occipital bone are the hypoglossal canals. Further out, at each junction between the occipital and petrous portion of the temporal bone lies a jugular foramen; the inner surface of the occipital bone is marked by dividing lines as shallow ridges, that form four fossae or depressions. The lines are called the cruciform eminence. At the midpoint where the lines intersect a raised part is formed called the internal occipital protuberance. From each side of this eminence runs a groove for the transverse sinuses. There are two midline skull landmarks at the foramen magnum; the basion is the most anterior point of the opening and the opisthion is the point on the opposite posterior part. The basion lines up with the dens; the foramen magnum is a large oval foramen longest front to back.
The clivus, a smooth bony section, travels upwards on the front surface of the foramen, the median internal occipital crest travels behind it. Through the foramen passes the medulla oblongata and its membranes, the accessory nerves, the vertebral arteries, the anterior and posterior spinal arteries, the tectorial membrane and alar ligaments; the superior angle of the occipital bone articulates with the occipital angles of the parietal bones and, in the fetal skull, corresponds in position with the posterior fontanelle. The lateral angles are situated at the extremities of the groove for the transverse sinuses: each is received into the interval between the mastoid angle of the parietal bone, the mastoid portion of the temporal bone; the inferior angle is fused with the body of the sphenoid bone. The superior borders extend from the superior to the lateral angles: they are serrated for articulation with the occipital borders of the parietals, form by this union the lambdoidal suture; the inferior borders extend from the lateral angles to the inferior angle.
These two portions of the inferior border are separated from one another by the jugular process, the notch on the anterior surface of which forms the posterior part of the jugular foramen. The lambdoid suture joins the occipital bone to the parietal bones; the occipitomastoid suture joins the occipital mastoid portion of the temporal bone. The sphenobasilar suture joins the basilar part of the occipital bone and the back of the sphenoid bone body; the petrous-basilar suture joins the side edge of the basilar part of the occipital bone to the petrous-part of the temporal bone. The occipital plane of the squamous part of the occipital bone is developed in membrane, may remain separate throughout life when it constitutes the interparietal bone; the number of nuclei for the occipital plane is given as four, two appearing near the middle line about the second month, two some little distance from the middle line about the third month of
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from errors during DNA replication or other types of damage to DNA, which may undergo error-prone repair, or cause an error during other forms of repair, or else may cause an error during replication. Mutations may result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution and the development of the immune system, including junctional diversity; the genomes of RNA viruses are based on RNA rather than DNA. The RNA viral genome can be double single stranded. In some of these viruses replication occurs and there are no mechanisms to check the genome for accuracy; this error-prone process results in mutations.
Mutation can result in many different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, the remainder being either neutral or marginally beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state. Mutations can involve the duplication of large sections of DNA through genetic recombination; these duplications are a major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years.
Most genes belong to larger gene families of shared ancestry. Novel genes are produced by several methods through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions. Here, protein domains act as modules, each with a particular and independent function, that can be mixed together to produce genes encoding new proteins with novel properties. For example, the human eye uses four genes to make structures that sense light: three for cone cell or color vision and one for rod cell or night vision. Another advantage of duplicating a gene is. Other types of mutation create new genes from noncoding DNA. Changes in chromosome number may involve larger mutations, where segments of the DNA within chromosomes break and rearrange. For example, in the Homininae, two chromosomes fused to produce human chromosome 2. In evolution, the most important role of such chromosomal rearrangements may be to accelerate the divergence of a population into new species by making populations less to interbreed, thereby preserving genetic differences between these populations.
Sequences of DNA that can move about the genome, such as transposons, make up a major fraction of the genetic material of plants and animals, may have been important in the evolution of genomes. For example, more than a million copies of the Alu sequence are present in the human genome, these sequences have now been recruited to perform functions such as regulating gene expression. Another effect of these mobile DNA sequences is that when they move within a genome, they can mutate or delete existing genes and thereby produce genetic diversity. Nonlethal mutations increase the amount of genetic variation; the abundance of some genetic changes within the gene pool can be reduced by natural selection, while other "more favorable" mutations may accumulate and result in adaptive changes. For example, a butterfly may produce offspring with new mutations; the majority of these mutations will have no effect. If this color change is advantageous, the chances of this butterfly's surviving and producing its own offspring are a little better, over time the number of butterflies with this mutation may form a larger percentage of the population.
Neutral mutations are defined as mutations whose effects do not influence the fitness of an individual. These can increase in frequency over time due to genetic drift, it is believed that the overwhelming majority of mutations have no significant effect on an organism's fitness. DNA repair mechanisms are able to mend most changes before they become permanent mutations, many organisms have mechanisms for eliminating otherwise-permanently mutated somatic cells. Beneficial mutations can improve reproductive success. Mutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's 1859 book, On the Origin of Species. In the theory, mutation was the source of novelty
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, transporting molecules from one location to another. Proteins differ from one another in their sequence of amino acids, dictated by the nucleotide sequence of their genes, which results in protein folding into a specific three-dimensional structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are considered to be proteins and are called peptides, or sometimes oligopeptides; the individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residues in a protein is defined by the sequence of a gene, encoded in the genetic code.
In general, the genetic code specifies 20 standard amino acids. Shortly after or during synthesis, the residues in a protein are chemically modified by post-translational modification, which alters the physical and chemical properties, stability and the function of the proteins. Sometimes proteins have non-peptide groups attached, which can be called prosthetic groups or cofactors. Proteins can work together to achieve a particular function, they associate to form stable protein complexes. Once formed, proteins only exist for a certain period and are degraded and recycled by the cell's machinery through the process of protein turnover. A protein's lifespan covers a wide range, they can exist for years with an average lifespan of 1 -- 2 days in mammalian cells. Abnormal or misfolded proteins are degraded more either due to being targeted for destruction or due to being unstable. Like other biological macromolecules such as polysaccharides and nucleic acids, proteins are essential parts of organisms and participate in every process within cells.
Many proteins are enzymes that are vital to metabolism. Proteins have structural or mechanical functions, such as actin and myosin in muscle and the proteins in the cytoskeleton, which form a system of scaffolding that maintains cell shape. Other proteins are important in cell signaling, immune responses, cell adhesion, the cell cycle. In animals, proteins are needed in the diet to provide the essential amino acids that cannot be synthesized. Digestion breaks the proteins down for use in the metabolism. Proteins may be purified from other cellular components using a variety of techniques such as ultracentrifugation, precipitation and chromatography. Methods used to study protein structure and function include immunohistochemistry, site-directed mutagenesis, X-ray crystallography, nuclear magnetic resonance and mass spectrometry. Most proteins consist of linear polymers built from series of up to 20 different L-α- amino acids. All proteinogenic amino acids possess common structural features, including an α-carbon to which an amino group, a carboxyl group, a variable side chain are bonded.
Only proline differs from this basic structure as it contains an unusual ring to the N-end amine group, which forces the CO–NH amide moiety into a fixed conformation. The side chains of the standard amino acids, detailed in the list of standard amino acids, have a great variety of chemical structures and properties; the amino acids in a polypeptide chain are linked by peptide bonds. Once linked in the protein chain, an individual amino acid is called a residue, the linked series of carbon and oxygen atoms are known as the main chain or protein backbone; the peptide bond has two resonance forms that contribute some double-bond character and inhibit rotation around its axis, so that the alpha carbons are coplanar. The other two dihedral angles in the peptide bond determine the local shape assumed by the protein backbone; the end with a free amino group is known as the N-terminus or amino terminus, whereas the end of the protein with a free carboxyl group is known as the C-terminus or carboxy terminus.
The words protein and peptide are a little ambiguous and can overlap in meaning. Protein is used to refer to the complete biological molecule in a stable conformation, whereas peptide is reserved for a short amino acid oligomers lacking a stable three-dimensional structure. However, the boundary between the two is not well defined and lies near 20–30 residues. Polypeptide can refer to any single linear chain of amino acids regardless of length, but implies an absence of a defined conformation. Proteins can interact with many types of molecules, including with other proteins, with lipids, with carboyhydrates, with DNA, it has been estimated. Smaller bacteria, such as Mycoplasma or spirochetes contain fewer molecules, on the order of 50,000 to 1 million. By contrast, eukaryotic cells are larger and thus contain much more pro
In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA; the RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait; these genes make up different DNA sequences called genotypes. Genotypes along with developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions; some genetic traits are visible, such as eye color or number of limbs, some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life. Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the population; these alleles encode different versions of a protein, which cause different phenotypical traits.
Usage of the term "having a gene" refers to containing a different allele of the same, shared gene. Genes evolve due to natural selection / survival of the fittest and genetic drift of the alleles; the concept of a gene continues to be refined. For example, regulatory regions of a gene can be far removed from its coding regions, coding regions can be split into several exons; some viruses store their genome in RNA instead of DNA and some gene products are functional non-coding RNAs. Therefore, a broad, modern working definition of a gene is any discrete locus of heritable, genomic sequence which affect an organism's traits by being expressed as a functional product or by regulation of gene expression; the term gene was introduced by Danish botanist, plant physiologist and geneticist Wilhelm Johannsen in 1909. It is inspired by the ancient Greek: γόνος, that means offspring and procreation; the existence of discrete inheritable units was first suggested by Gregor Mendel. From 1857 to 1864, in Brno, he studied inheritance patterns in 8000 common edible pea plants, tracking distinct traits from parent to offspring.
He described these mathematically as 2n combinations where n is the number of differing characteristics in the original peas. Although he did not use the term gene, he explained his results in terms of discrete inherited units that give rise to observable physical characteristics; this description prefigured Wilhelm Johannsen's distinction between phenotype. Mendel was the first to demonstrate independent assortment, the distinction between dominant and recessive traits, the distinction between a heterozygote and homozygote, the phenomenon of discontinuous inheritance. Prior to Mendel's work, the dominant theory of heredity was one of blending inheritance, which suggested that each parent contributed fluids to the fertilisation process and that the traits of the parents blended and mixed to produce the offspring. Charles Darwin developed a theory of inheritance he termed pangenesis, from Greek pan and genesis / genos. Darwin used the term gemmule to describe hypothetical particles. Mendel's work went unnoticed after its first publication in 1866, but was rediscovered in the late 19th century by Hugo de Vries, Carl Correns, Erich von Tschermak, who reached similar conclusions in their own research.
In 1889, Hugo de Vries published his book Intracellular Pangenesis, in which he postulated that different characters have individual hereditary carriers and that inheritance of specific traits in organisms comes in particles. De Vries called these units "pangenes", after Darwin's 1868 pangenesis theory. Sixteen years in 1905, Wilhelm Johannsen introduced the term'gene' and William Bateson that of'genetics' while Eduard Strasburger, amongst others, still used the term'pangene' for the fundamental physical and functional unit of heredity. Advances in understanding genes and inheritance continued throughout the 20th century. Deoxyribonucleic acid was shown to be the molecular repository of genetic information by experiments in the 1940s to 1950s; the structure of DNA was studied by Rosalind Franklin and Maurice Wilkins using X-ray crystallography, which led James D. Watson and Francis Crick to publish a model of the double-stranded DNA molecule whose paired nucleotide bases indicated a compelling hypothesis for the mechanism of genetic replication.
In the early 1950s the prevailing view was that the genes in a chromosome acted like discrete entities, indivisible by recombination and arranged like beads on a string. The experiments of Benzer using mutants defective in the rII region of bacteriophage T4 showed that individual genes have a simple linear structure and are to be equivalent to a linear section of DNA. Collectively, this body of research established the central dogma of molecular biology, which states that proteins are translated from RNA, transcribed from DNA; this dogma has since been shown to have exceptions, such as reverse transcription in retroviruses. The modern study of genetics at the level of DNA is known as molecular genetics. In 1972, Walter Fiers and his team were the first to determine the sequence of a gene: that of Bacteriophage MS2 coat protein; the subsequent development of chain-termination DNA sequencing in 1977 by Frederick Sanger improved the efficiency of sequencing and turned it into a routine laboratory tool.
An automated version of the Sanger method was used in early phases of the