Transvection is an epigenetic phenomenon that results from an interaction between an allele on one chromosome and the corresponding allele on the homologous chromosome. Transvection can lead to either gene activation or repression. [1] It can also occur between nonallelic regions of the genome as well as regions of the genome that are not transcribed.
The first observation of mitotic (i.e. non-meiotic) chromosome pairing was discovered via microscopy in 1908 by Nettie Stevens. [2] Edward B. Lewis at Caltech discovered transvection at the bithorax complex in Drosophila in the 1950s. [3] Since then, transvection has been observed at a number of additional loci in Drosophila, including the genes known as white, decapentaplegic, eyes absent, vestigial, and yellow. [4] [5] [6] [7] [8] As defined by Lewis, "Operationally, transvection is occurring if the phenotype of a given genotype can be altered solely by disruption of somatic (or meiotic) pairing. Such disruption can generally be accomplished by introduction of a heterozygous rearrangement that disrupts pairing in the relevant region but has no position effect of its own on the phenotype" (cited by Ting Wu and Jim Morris, 1999 [9] ). Recently, pairing-mediated phenomena have been observed in species other than Drosophila, including mice, humans, plants, nematodes, insects, and fungi. In light of these findings, transvection may represent a potent and widespread form of gene regulation. [10] [11]
Transvection appears to be dependent upon chromosome pairing. In some cases, if one allele is placed on a different chromosome by a translocation, transvection does not occur. Transvection can sometimes be restored in a translocation homozygote, where both alleles may once again be able to pair. Restoration of phenotype has been observed at bithorax, decapentaplegic, eyes absent, and vestigial, and with transgenes of white. In some cases, transvection between two alleles leads to intragenic complementation while disruption of transvection disrupts the complementation.
Transvection is believed to occur through a variety of mechanisms. In one mechanism, the enhancers of one allele activate the promoter of a paired second allele. Other mechanisms include pairing-sensitive silencing and enhancer bypass of a chromatin insulator through pairing-mediated changes in gene structure. [12] [13]
The physiological relevance of transvection has recently been documented in the context of sex-biased gene expression. In Drosophila, transvection acts on the female X-linked gene yellow, which is homozygous in females (XX) versus hemizygous in males (XY). [14]
An allele, or allelomorph, is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.
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.
A pair of homologous chromosomes, or homologs, is 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 that 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.
Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype.
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm. The breakpoints of inversions often happen in regions of repetitive nucleotides, and the regions may be reused in other inversions. Chromosomal segments in inversions can be as small as 1 kilobases or as large as 100 megabases. The number of genes captured by an inversion can range from a handful of genes to hundreds of genes. Inversions can happen either through ectopic recombination between repetitive sequences, or through chromosomal breakage followed by non-homologous end joining.
Forward genetics is a molecular genetics approach of determining the genetic basis responsible for a phenotype. Forward genetics provides an unbiased approach because it relies heavily on identifying the genes or genetic factors that cause a particular phenotype or trait of interest.
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.
A polygene is a member of a group of non-epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance, a type of non-Mendelian inheritance, as opposed to single-gene inheritance, which is the core notion of Mendelian inheritance. The term "monozygous" is usually used to refer to a hypothetical gene as it is often difficult to distinguish the effect of an individual gene from the effects of other genes and the environment on a particular phenotype. Advances in statistical methodology and high throughput sequencing are, however, allowing researchers to locate candidate genes for the trait. In the case that such a gene is identified, it is referred to as a quantitative trait locus (QTL). These genes are generally pleiotropic as well. The genes that contribute to type 2 diabetes are thought to be mostly polygenes. In July 2016, scientists reported identifying a set of 355 genes from the last universal common ancestor (LUCA) of all organisms living on Earth.
A null allele is a nonfunctional allele caused by a genetic mutation. Such mutations can cause a complete lack of production of the associated gene product or a product that does not function properly; in either case, the allele may be considered nonfunctional. A null allele cannot be distinguished from deletion of the entire locus solely from phenotypic observation.
Intragenomic conflict refers to the evolutionary phenomenon where genes have phenotypic effects that promote their own transmission in detriment of the transmission of other genes that reside in the same genome. The selfish gene theory postulates that natural selection will increase the frequency of those genes whose phenotypic effects cause their transmission to new organisms, and most genes achieve this by cooperating with other genes in the same genome to build an organism capable of reproducing and/or helping kin to reproduce. The assumption of the prevalence of intragenomic cooperation underlies the organism-centered concept of inclusive fitness. However, conflict among genes in the same genome may arise both in events related to reproduction and altruism.
Meiotic drive is a type of intragenomic conflict, whereby one or more loci within a genome will affect a manipulation of the meiotic process in such a way as to favor the transmission of one or more alleles over another, regardless of its phenotypic expression. More simply, meiotic drive is when one copy of a gene is passed on to offspring more than the expected 50% of the time. According to Buckler et al., "Meiotic drive is the subversion of meiosis so that particular genes are preferentially transmitted to the progeny. Meiotic drive generally causes the preferential segregation of small regions of the genome".
The term transheterozygote is used in modern genetics periodicals in two different ways. In the first, the transheterozygote has one mutant (-) and one wildtype allele (+) at each of two different genes. In the second, the transheterozygote carries two different mutated alleles of the same gene. This second definition also applies to the term "heteroallelic combination".
Mitotic recombination is a type of genetic recombination that may occur in somatic cells during their preparation for mitosis in both sexual and asexual organisms. In asexual organisms, the study of mitotic recombination is one way to understand genetic linkage because it is the only source of recombination within an individual. Additionally, mitotic recombination can result in the expression of recessive alleles in an otherwise heterozygous individual. This expression has important implications for the study of tumorigenesis and lethal recessive alleles. Mitotic homologous recombination occurs mainly between sister chromatids subsequent to replication. Inter-sister homologous recombination is ordinarily genetically silent. During mitosis the incidence of recombination between non-sister homologous chromatids is only about 1% of that between sister chromatids.
Position-effect variegation (PEV) is a variegation caused by the silencing of a gene in some cells through its abnormal juxtaposition with heterochromatin via rearrangement or transposition. It is also associated with changes in chromatin conformation.
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.
A recombinant inbred strain or recombinant inbred line (RIL) is an organism with chromosomes that incorporate an essentially permanent set of recombination events between chromosomes inherited from two or more inbred strains. F1 and F2 generations are produced by intercrossing the inbred strains; pairs of the F2 progeny are then mated to establish inbred strains through long-term inbreeding.
Chao-ting Wu is an American molecular biologist. After training at Harvard Medical School in genetics with William Gelbart, at Stanford Medical School with David Hogness, and in a fellowship at Massachusetts General Hospital in molecular biology, Wu began her independent academic career as an assistant professor in Anatomy and Cellular Biology and then Genetics at Harvard Medical School in 1993. After a period as Professor of Pediatrics in the Division of Molecular Medicine at the Boston Children's Hospital, she returned to the Department of Genetics at Harvard Medical School as a full professor in 2007.
Somatic pairing of homologous chromosomes is similar to pre- and early meiotic pairing, and has been observed in Diptera (Drosophila), and budding yeast, for example. Mammals show little pairing apart from in germline cells, taking place at specific loci, and under the control of developmental signalling.
Abby F. Dernburg is a professor of Cell and Developmental Biology at the University of California, Berkeley, an Investigator of the Howard Hughes Medical Institute, and a Faculty Senior Scientist at Lawrence Berkeley National Laboratory.
Hybrid incompatibility is a phenomenon in plants and animals, wherein offspring produced by the mating of two different species or populations have reduced viability and/or are less able to reproduce. Examples of hybrids include mules and ligers from the animal world, and subspecies of the Asian rice crop Oryza sativa from the plant world. Multiple models have been developed to explain this phenomenon. Recent research suggests that the source of this incompatibility is largely genetic, as combinations of genes and alleles prove lethal to the hybrid organism. Incompatibility is not solely influenced by genetics, however, and can be affected by environmental factors such as temperature. The genetic underpinnings of hybrid incompatibility may provide insight into factors responsible for evolutionary divergence between species.