Phenotypic trait

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A phenotypic trait, [1] [2] simply trait, or character state [3] [4] 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. [5] For example, eye color is a character of an organism, while blue, brown and hazel are traits.



A phenotypic trait is an obvious, observable, and measurable trait; it is the expression of genes in an observable way. An example of a phenotypic trait is a specific hair color or eye colour. Underlying genes, which make up the genotype, determine the hair color, but the hair color observed is the phenotype. The phenotype is dependent on the genetic make-up of the organism, and also influenced by the environmental conditions to which the organism is subjected across its ontogenetic development, [6] including various epigenetic processes. Regardless of the degree of influence of genotype versus environment, the phenotype encompasses all of the characteristics of an organism, including traits at multiple levels of biological organization, ranging from behavior and evolutionary history of life traits (e.g., litter size), through morphology (e.g., body height and composition), physiology (e.g., blood pressure), cellular characteristics (e.g., membrane lipid composition, mitochondrial densities), components of biochemical pathways, and even messenger RNA.

Genetic origin of traits in diploid organisms

The inheritable unit that may influence a trait is called a gene. A gene is a portion of a chromosome, which is a very long and compacted string of DNA and proteins. An important reference point along a chromosome is the centromere; the distance from a gene to the centromere is referred to as the gene's locus or map location.

The nucleus of a diploid cell contains two of each chromosome, with homologous (mostly identical) pairs of chromosomes having the same genes at the same loci.

Different phenotypic traits are caused by different forms of genes, or alleles, which arise by mutation in a single individual and are passed on to successive generations.

Mendelian expression of genes in diploid organisms

A gene is only a DNA code sequence; the slightly different variations of that sequence are called alleles. Alleles can be significantly different and produce different product RNAs.

Combinations of different alleles thus go on to generate different traits through the information flow charted above. For example, if the alleles on homologous chromosomes exhibit a "simple dominance" relationship, the trait of the "dominant" allele shows in the phenotype.

Gregor Mendel pioneered modern genetics. His most famous analyses were based on clear-cut traits with simple dominance. He determined that the heritable units, what we now call genes, occurred in pairs. His tool was statistics.

Biochemistry of dominance and extensions to expression of traits

The biochemistry of the intermediate proteins determines how they interact in the cell. Therefore, biochemistry predicts how different combinations of alleles will produce varying traits.

Extended expression patterns seen in diploid organisms include facets of incomplete dominance, codominance, and multiple alleles. Incomplete dominance is the condition in which neither allele dominates the other in one heterozygote. Instead the phenotype is intermediate in heterozygotes. Thus you can tell that each allele is present in the heterozygote. [7] Codominance refers to the allelic relationship that occurs when two alleles are both expressed in the heterozygote, and both phenotypes are seen simultaneously. [8] Multiple alleles refers to the situation when there are more than 2 common alleles of a particular gene. Blood groups in humans is a classic example. The ABO blood group proteins are important in determining blood type in humans, and this is determined by different alleles of the one locus. [9]


Schizotypy is an example of a psychological phenotypic trait found in schizophrenia-spectrum disorders. Studies have shown that gender and age influences the expression of schizotypal traits. [10] For instance, certain schizotypal traits may develop further during adolescence, whereas others stay the same during this period. [10]

See also


  1. Williams, David; Schmitt, Michael; Wheeler, Quentin (2016-07-21). The Future of Phylogenetic Systematics: The Legacy of Willi Hennig. ISBN   9781107117648.
  2. Yeates, David K.; Wiegmann, Brian M. (2005). The Evolutionary Biology of Flies. ISBN   9780231127004.
  4. Wright, April M; Lloyd, Graeme T; Hillis, David M (2016). "Modeling Character Change Heterogeneity in Phylogenetic Analyses of Morphology through the Use of Priors". Systematic Biology. 65 (4): 602–611. doi: 10.1093/sysbio/syv122 . PMID   26715586.
  5. Lawrence, Eleanor (2005) Henderson's Dictionary of Biology. Pearson, Prentice Hall. ISBN   0-13-127384-1
    • Campbell, Neil; Reece, Jane, Biology, Benjamin Cummings
  6. Bailey, Regina. "What is incomplete dominance".
  7. McClean, Philip. "Variations to Mendel's First Law of Genetics".
  8. Unknown. "Multiple Alleles".
  9. 1 2 Fonseca-Pedrero, Eduardo; Lemos-Giráldez, Serafín; Paino, Mercedes; Sierra-Baigrie, Susana; Muñiz, José (2012-08-01). "Phenotypic Expression of Schizotypal Traits in an Adolescent Population". Journal of Personality Disorders. 26 (4): 539–550. doi:10.1521/pedi.2012.26.4.539. ISSN   0885-579X.

Related Research Articles

An allele is one of two, or more, forms of a given gene variant. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles. Nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. An allele is one of two, or more, versions of the same gene at the same place on a chromosome. It can also refer to different sequence variations for several-hundred base-pair or more region of the genome that codes for a protein. Alleles can come in different extremes of size. At the lowest possible size an allele can be a single nucleotide polymorphism (SNP). At the higher end, it can be up to several thousand base-pairs long. Most alleles result in little or no observable change in the function of the protein the gene codes for.

Genetics Science of genes, heredity, and variation in living organisms

Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.

Genotype Part of the genetic makeup of a cell which determines one of its characteristics

The genotype of an organism is its complete set of genetic material. However, the term is often used to refer to a single gene or set of genes, such as the genotype for eye color. The genes partly determine the observable characteristics of an organism, such as hair color, height, etc. An example of a characteristic determined by a genotype is the petal color in a pea plant. The collection of all genetic possibilities for a single trait are called alleles; two alleles for petal color are purple and white.

Heredity Passing of traits to offspring from the speciess parents or ancestor

Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics.

Mendelian inheritance Type of biological inheritance

Mendelian inheritance is a type of biological inheritance that follows the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 and popularized by William Bateson. These principles were initially controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in his 1930 book The Genetical Theory of Natural Selection, putting evolution onto a mathematical footing and forming the basis for population genetics within the modern evolutionary synthesis.

Dominance (genetics) One gene variant masking the effect of another in the other copy of the gene

In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child. Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant nor recessive. Additionally, there are other forms of dominance such as incomplete dominance, in which a gene variant has a partial effect compared to when it is present on both chromosomes, and co-dominance, in which different variants on each chromosome both show their associated traits.

Homologous chromosome Set of one maternal and one paternal chromosome that pair up with each other inside a cell during meiosis

A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization. Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. This is the basis for Mendelian inheritance which characterizes inheritance patterns of genetic material from an organism to its offspring parent developmental cell at the given time and area.

Polymorphism (biology) Occurrence of two or more clearly different morphs or forms in the population of a species

In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population.

Punnett square Diagram used to predict the possible outcomes of a breeding experiment, and their respective likelihoods

The Punnett square is a square diagram that is used to predict the genotypes of a particular cross or breeding experiment. It is named after Reginald C. Punnett, who devised the approach in 1905. The diagram is used by biologists to determine the probability of an offspring having a particular genotype. The Punnett square is a tabular summary of possible combinations of maternal alleles with paternal alleles. These tables can be used to examine the genotypical outcome probabilities of the offspring of a single trait (allele), or when crossing multiple traits from the parents. The Punnett square is a visual representation of Mendelian inheritance. It is important to understand the terms "heterozygous", "homozygous", "double heterozygote", "dominant allele" and "recessive allele" when using the Punnett square method. For multiple traits, using the "forked-line method" is typically much easier than the Punnett square. Phenotypes may be predicted with at least better-than-chance accuracy using a Punnett square, but the phenotype that may appear in the presence of a given genotype can in some instances be influenced by many other factors, as when polygenic inheritance and/or epigenetics are at work.

Non-Mendelian inheritance

Non-Mendelian inheritance is any pattern of inheritance in which traits do not segregate in accordance with Mendel's laws. These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. In Mendelian inheritance, each parent contributes one of two possible alleles for a trait. If the genotypes of both parents in a genetic cross are known, Mendel's laws can be used to determine the distribution of phenotypes expected for the population of offspring. There are several situations in which the proportions of phenotypes observed in the progeny do not match the predicted values.

Genetics, a discipline of biology, is the science of heredity and variation in living organisms.

Locus (genetics) Location of a gene or region on a chromosome

In genetics, a locus is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000.

This glossary of genetics is a list of definitions of terms and concepts commonly used in the study of genetics and related disciplines in biology, including molecular biology and evolutionary biology. It is intended as introductory material for novices; for more specific and technical detail, see the article corresponding to each term. For related terms, see Glossary of evolutionary biology.

Balancer chromosomes are a type of genetically engineered chromosome used in laboratory biology for the maintenance of recessive lethal mutations within living organisms without interference from natural selection. Since such mutations are viable only in heterozygotes, they cannot be stably maintained through successive generations and therefore continually lead to production of wild-type organisms, which can be prevented by replacing the homologous wild-type chromosome with a balancer. In this capacity, balancers are crucial for genetics research on model organisms such as Drosophila melanogaster, the common fruit fly, for which stocks cannot be archived. They can also be used in forward genetics screens to specifically identify recessive lethal mutations. For that reason, balancers are also used in other model organisms, most notably the nematode worm Caenorhabditis elegans and the mouse.

Marker assisted selection or marker aided selection (MAS) is an indirect selection process where a trait of interest is selected based on a marker linked to a trait of interest, rather than on the trait itself. This process has been extensively researched and proposed for plant and animal breeding.

The following outline is provided as an overview of and topical guide to genetics:

Hereditary carrier

A hereditary carrier, is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.


Zygosity is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.

Classical genetics is the branch of genetics based solely on visible results of reproductive acts. It is the oldest discipline in the field of genetics, going back to the experiments on Mendelian inheritance by Gregor Mendel who made it possible to identify the basic mechanisms of heredity. Subsequently, these mechanisms have been studied and explained at the molecular level.

This glossary of evolutionary biology is a list of definitions of terms and concepts used in the study of evolutionary biology, population biology, speciation, and phylogenetics, as well as sub-disciplines and related fields. For additional terms from related glossaries, see Glossary of genetics, Glossary of ecology, and Glossary of biology.