Inheritance
Further information: Classical genetics
Punnett square depicting a cross between two pea plants heterozygous for purple (B) and white (b) blossoms
Genetics is the scientific study of inheritance.[68][69][70] Mendelian inheritance, specifically, is the process by which genes and traits are passed on from parents to offspring.[32] It was formulated by Gregor Mendel, based on his work with pea plants in the mid-nineteenth century. Mendel established several principles of inheritance. The first is that genetic characteristics, which are now called alleles, are discrete and have alternate forms (e.g., purple vs. white or tall vs. dwarf), each inherited from one of two parents. Based on his law of dominance and uniformity, which states that some alleles are dominant while others are recessive; an organism with at least one dominant allele will display the phenotype of that dominant allele.[71] Exceptions to this rule include penetrance and expressivity.[32] Mendel noted that during gamete formation, the alleles for each gene segregate from each other so that each gamete carries only one allele for each gene, which is stated by his law of segregation. Heterozygotic individuals produce gametes with an equal frequency of two alleles. Finally, Mendel formulated the law of independent assortment, which states that genes of different traits can segregate independently during the formation of gametes, i.e., genes are unlinked. An exception to this rule would include traits that are sex-linked. Test crosses can be performed to experimentally determine the underlying genotype of an organism with a dominant phenotype.[72] A Punnett square can be used to predict the results of a test cross. The chromosome theory of inheritance, which states that genes are found on chromosomes, was supported by Thomas Morgans's experiments with fruit flies, which established the sex linkage between eye color and sex in these insects.[73] In humans and other mammals (e.g., dogs), it is not feasible or practical to conduct test cross experiments. Instead, pedigrees, which are genetic representations of family trees,[74] are used instead to trace the inheritance of a specific trait or disease through multiple generations.[75]
DNA
Bases lie between two spiraling DNA strands.
See also: Gene, DNA, and Genetics
A gene is a unit of heredity that corresponds to a region of deoxyribonucleic acid (DNA) that carries genetic information that influences the form or function of an organism in specific ways. DNA is a molecule composed of two polynucleotide chains that coil around each other to form a double helix, which was first described by James Watson and Francis Crick in 1953.[76] It is found as linear chromosomes in eukaryotes, and circular chromosomes in prokaryotes. A chromosome is an organized structure consisting of DNA and histones. The set of chromosomes in a cell and any other hereditary information found in the mitochondria, chloroplasts, or other locations is collectively known as a cell's genome. In eukaryotes, genomic DNA is localized in the cell nucleus, or with small amounts in mitochondria and chloroplasts.[77] In prokaryotes, the DNA is held within an irregularly shaped body in the cytoplasm called the nucleoid.[78] The genetic information in a genome is held within genes, and the complete assemblage of this information in an organism is called its genotype.[79] Genes encode the information needed by cells for the synthesis of proteins, which in turn play a central role in influencing the final phenotype of the organism.
The two polynucleotide strands that make up DNA run in opposite directions to each other and are thus antiparallel. Each strand is composed of nucleotides,[80][81] with each nucleotide containing one of four nitrogenous bases (cytosine [C], guanine [G], adenine [A] or thymine [T]), a sugar called deoxyribose, and a phosphate group. The nucleotides are joined to one another in a chain by covalent bonds between the sugar of one nucleotide and the phosphate of the next, resulting in an alternating sugar-phosphate backbone. It is the sequence of these four bases along the backbone that encodes genetic information. Bases of the two polynucleotide strands are bound together by hydrogen bonds, according to base pairing rules (A with T and C with G), to make double-stranded DNA. The bases are divided into two groups: pyrimidines and purines. In DNA, the pyrimidines are thymine and cytosine whereas the purines are adenine and guanine.
There are grooves that run along the entire length of the double helix due to the uneven spacing of the DNA strands relative to each other.[76] Both grooves differ in size, with the major groove being larger and therefore more accessible to the binding of proteins than the minor groove.[76] The outer edges of the bases are exposed to these grooves and are therefore accessible for additional hydrogen bonding.[76] Because each groove can have two possible base-pair configurations (G-C and A-T), there are four possible base-pair configurations within the entire double helix, each of which is chemically distinct from another.[76] As a result, protein molecules are able to recognize and bind to specific base-pair sequences, which is the basis of specific DNA-protein interactions.
DNA replication is a semiconservative process whereby each strand serves as a template for a new strand of DNA.[76] The process begins with the unwounding of the double helix at an origin of replication, which separates the two strands, thereby making them available as two templates. This is then followed by the binding of the enzyme primase to the template to synthesize a starter RNA (or DNA in some viruses) strand called a primer from the 5' to 3' location.[76] Once the primer is completed, the primase is released from the template, followed by the binding of the enzyme DNA polymerase to the same template to synthesize new DNA. The rate of DNA replication in a living cell was measured as 749 nucleotides added per second under ideal conditions.[82]
DNA replication is not perfect as the DNA polymerase sometimes insert bases that are not complementary to the template (e.g., putting in A in the strand opposite to G in the template strand).[76] In eukaryotes, the initial error or mutation rate is about 1 in 100,000.[76] Proofreading and mismatch repair are the two mechanisms that repair these errors, which reduces the mutation rate to 10−10, particularly before and after a cell cycle.[76]
Mutations are heritable changes in DNA.[76] They can arise spontaneously as a result of replication errors that were not corrected by proofreading or can be induced by an environmental mutagen such as a chemical (e.g., nitrous acid, benzopyrene) or radiation (e.g., x-ray, gamma ray, ultraviolet radiation, particles emitted by unstable isotopes).[76] Mutations can appear as a change in single base or at a larger scale involving chromosomal mutations such as deletions, inversions, or translocations.[76]
In multicellular organisms, mutations can occur in somatic or germline cells.[76] In somatic cells, the mutations are passed on to daughter cells during mitosis.[76] In a germline cell such as a sperm or an egg, the mutation will appear in an organism at fertilization.[76] Mutations can lead to several types of phenotypic effects such as silent, loss-of-function, gain-of-function, and conditional mutations.[76]
Some mutations can be beneficial, as they are a source of genetic variation for evolution.[76] Others can be harmful if they were to result in a loss of function of genes needed for survival.[76] Mutagens such as carcinogens are typically avoided as a matter of public health policy goals.[76] One example is the banning of chlorofluorocarbons (CFC) by the Montreal Protocol, as CFCs tend to deplete the ozone layer, resulting in more ultraviolet radiation from the sun passing through the Earth's upper atmosphere, thereby causing somatic mutations that can lead to skin cancer.[76] Similarly, smoking bans have been enforced throughout the world in an effort to reduce the incidence of lung cancer.[76]
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