Phenotype in the context of Stabilizing selection

In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of RNA or protein from a gene), DNA is first copied into RNA. RNA can be directly functional or be the intermediate template for the synthesis of a protein.

The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype of the individual.

Natural selection is the differential survival and reproduction of individuals due to differences in the relative fitness endowed on them by their own particular complement of observable characteristics. It is a key law or mechanism of evolution which changes the heritable traits characteristic of a population or species over generations. Charles Darwin popularised the term "natural selection", contrasting it with artificial selection, which is intentional, whereas natural selection is not.

For Darwin natural selection was a law or principle which resulted from three different kinds of process: inheritance, including the transmission of heritable material from parent to offspring and its development (ontogeny) in the offspring; variation, which partly resulted from an organism's own agency (see phenotype; Baldwin effect); and the struggle for existence, which included both competition between organisms and cooperation or 'mutual aid' (particularly in 'social' plants and social animals).

Panethnicity is a political neologism used to group various ethnic groups together based on their related cultural origins; geographic, linguistic, religious, or "racial" (i.e. phenotypic) similarities are often used alone or in combination to draw panethnic boundaries. The term panethnic was used extensively during mid-20th century anti-colonial/national liberation movements. In the United States, Yen Le Espiritu popularized the term and coined the nominal term panethnicity in reference to Asian Americans, a racial category composed of disparate peoples having in common only their origin in the continent of Asia.

It has since seen some use as a replacement of the term race; for example, the aforementioned Asian Americans can be described as "a panethnicity" of various unrelated peoples of Asia, which are nevertheless perceived as a distinguishable group within the larger multiracial North American society.

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Human variability, or human variation, is the range of possible values for any characteristic, physical or mental, of human beings.

Frequently debated areas of variability include cognitive ability, personality, physical appearance (body shape, skin color, etc.) and immunology.Variability is partly heritable and partly acquired (nature vs. nurture debate).As the human species exhibits sexual dimorphism, many traits show significant variation not just between populations but also between the sexes.

A phenotypic trait, simply trait, or character state is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two. For example, having eye color is a character of an organism, while blue, brown and hazel versions of eye color are traits. The term trait is generally used in genetics, often to describe the phenotypic expression of different combinations of alleles in different individual organisms within a single population, such as the famous purple vs. white flower coloration in Gregor Mendel's pea plants. By contrast, in systematics, the term character state is employed to describe features that represent fixed diagnostic differences among taxa, such as the absence of tails in great apes, relative to other primate groups.

In botany, a sport or bud sport, traditionally called lusus, is a part of a plant that shows morphological differences from the rest of the plant. Sports may differ by foliage shape or color, flowers, fruit, or branch structure. The cause is generally thought to be chance genetic mutations in a single cell. Sports may also arise from stable changes in gene expression due to epigenetic modifications, including histone modification, DNA methylation, chromatin remodeling and RNA silencing. If the clonal descendants of a modified cell eventually form a meristem that gives rise to new plant parts, those may be of a new phenotype. Often only part of the meristem cells are affected, resulting in genetic chimerism in such sports.

Fitness (often denoted ${\displaystyle w}$ or ω in population genetics models) is a quantitative representation of individual reproductive success. It is also equal to the average contribution to the gene pool of the next generation, made by the same individuals of the specified genotype or phenotype. Fitness can be defined either with respect to a genotype or to a phenotype in a given environment or time. The fitness of a genotype is manifested through its phenotype, which is also affected by the developmental environment. The fitness of a given phenotype can also be different in different selective environments.

With asexual reproduction, it is sufficient to assign fitnesses to genotypes. With sexual reproduction, recombination scrambles alleles into different genotypes every generation; in this case, fitness values can be assigned to alleles by averaging over possible genetic backgrounds. Natural selection tends to make alleles with higher fitness more common over time, resulting in Darwinian evolution.

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.

The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous.

Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the petal color in a pea plant is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. However, other traits are only partially influenced by genotype. These traits are often called complex traits because they are influenced by additional factors, such as environmental and epigenetic factors. Not all individuals with the same genotype look or act the same way because appearance and behavior are modified by environmental and growing conditions. Likewise, not all organisms that look alike necessarily have the same genotype.

Genetic variability is either the presence of, or the generation of, genetic differences. It is defined as "the formation of individuals differing in genotype, or the presence of genotypically different individuals, in contrast to environmentally induced differences which, as a rule, cause only temporary, nonheritable changes of the phenotype." Genetic variability in a population promotes biodiversity, as it ensures that no two living things are exactly alike. While many factors can cause genetic variability, some factors can also decrease genetic variability.

Species variability refers to the observable differences within a species, often encompassing morphological, physiological, behavioral, or phenotypic traits. While genetic variability contributes to species variability, external factors like the environment or developmental conditions can also influence the traits expressed.

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements.

Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of all genetic variation, providing the raw material on which evolutionary forces such as natural selection can act.

Genetic architecture is the underlying genetic basis of a phenotypic trait and its variational properties. Phenotypic variation for quantitative traits is, at the most basic level, the result of the segregation of alleles at quantitative trait loci (QTL). Environmental factors and other external influences can also play a role in phenotypic variation. Genetic architecture is a broad term that can be described for any given individual based on information regarding gene and allele number, the distribution of allelic and mutational effects, and patterns of pleiotropy, dominance, and epistasis.

There are several different experimental views of genetic architecture. Some researchers recognize that the interplay of various genetic mechanisms is incredibly complex, but believe that these mechanisms can be averaged and treated, more or less, like statistical noise. Other researchers claim that each and every gene interaction is significant and that it is necessary to measure and model these individual systemic influences on evolutionary genetics.

A genetic screen or mutagenesis screen is an experimental technique used to identify and select individuals who possess a phenotype of interest in a mutagenized population. Hence a genetic screen is a type of phenotypic screen. Genetic screens can provide important information on gene function as well as the molecular events that underlie a biological process or pathway. While genome projects have identified an extensive inventory of genes in many different organisms, genetic screens can provide valuable insight as to how those genes function.

Human physical appearance is the outward phenotype or look of human beings.

There are functionally infinite variations in human phenotypes, though society reduces the variability to distinct categories. The physical appearance of humans, in particular those attributes which are regarded as important for physical attractiveness, are believed by anthropologists to affect the development of personality significantly and social relations. Many humans are acutely sensitive to their physical appearance. Some differences in human appearance are genetic, others are the result of age, lifestyle or disease, and many are the result of personal adornment.

In evolutionary biology, adaptive radiation is a process in which organisms diversify rapidly from an ancestral species into a multitude of new forms, particularly when a change in the environment makes new resources available, alters biotic interactions or opens new environmental niches. Starting with a single ancestor, this process results in the speciation and phenotypic adaptation of an array of species exhibiting different morphological and physiological traits. The prototypical example of adaptive radiation is finch speciation on the Galapagos ("Darwin's finches"), but examples are known from around the world.

Genetic divergence is the process in which two or more populations of an ancestral species accumulate independent genetic changes (mutations) through time, often leading to reproductive isolation and continued mutation even after the populations have become reproductively isolated for some period of time, as there is not any genetic exchange anymore. In some cases, subpopulations cover living in ecologically distinct peripheral environments can exhibit genetic divergence from the remainder of a population, especially where the range of a population is very large (see parapatric speciation). The genetic differences among divergent populations can involve silent mutations (that have no effect on the phenotype) or give rise to significant morphological and/or physiological changes. Genetic divergence will always accompany reproductive isolation, either due to novel adaptations via selection and/or due to genetic drift, and is the principal mechanism underlying speciation.

On a molecular genetics level, genetic divergence is due to changes in a small number of genes in a species, resulting in speciation. However, researchers argue that it is unlikely that divergence is a result of a significant, single, dominant mutation in a genetic locus because if that were so, the individual with that mutation would have zero fitness. Consequently, they could not reproduce and pass the mutation on to further generations. Hence, it is more likely that divergence, and subsequently reproductive isolation, are the outcomes of multiple small mutations over evolutionary time accumulating in a population isolated from gene flow.