Extranuclear inheritance or cytoplasmic inheritance is the transmission of genes that occur outside the nucleus. It is found in most eukaryotes and is commonly known to occur in cytoplasmic organelles such as mitochondria and chloroplasts or from cellular parasites like viruses or bacteria. [1] [2] [3]
Mitochondria are organelles which function to transform energy as a result of cellular respiration. Chloroplasts are organelles which function to produce sugars via photosynthesis in plants and algae. The genes located in mitochondria and chloroplasts are very important for proper cellular function. The mitochondrial DNA and other extranuclear types of DNA replicate independently of the DNA located in the nucleus, which is typically arranged in chromosomes that only replicate one time preceding cellular division. The extranuclear genomes of mitochondria and chloroplasts however replicate independently of cell division. They replicate in response to a cell's increasing energy needs which adjust during that cell's lifespan. Since they replicate independently, genomic recombination of these genomes is rarely found in offspring, contrary to nuclear genomes in which recombination is common.
Mitochondrial diseases are inherited from the mother, not from the father. Mitochondria with their mitochondrial DNA are already present in the egg cell before it gets fertilized by a sperm. In many cases of fertilization, the head of the sperm enters the egg cell; leaving its middle part, with its mitochondria, behind. The mitochondrial DNA of the sperm often remains outside the zygote and gets excluded from inheritance.
Extranuclear transmission of viral genomes and symbiotic bacteria is also possible. An example of viral genome transmission is perinatal transmission. This occurs from mother to fetus during the perinatal period, which begins before birth and ends about 1 month after birth. During this time viral material may be passed from mother to child in the bloodstream or breastmilk. This is of particular concern with mothers carrying HIV or Hepatitis C viruses. [2] [3] Symbiotic cytoplasmic bacteria are also inherited in organisms such as insects and protists. [4]
Three general types of extranuclear inheritance exist.
Poky is a mutant of the fungus Neurospora crassa that has extranuclear inheritance. Poky is characterized by slow growth, a defect in mitochondrial ribosome assembly and deficiencies in several cytochromes. [10] The studies of poky mutants were among the first to establish an extranuclear mitochondrial basis for inheritance of a particular genotype. It was initially found, using genetic crosses, that poky is maternally inherited. [11] Subsequently, the primary defect in the poky mutants was determined to be a deletion in the mitochondrial DNA sequence encoding the small subunit of mitochondrial ribosomal RNA. [12]
A zygote is a eukaryotic cell formed by a fertilization event between two gametes. The zygote's genome is a combination of the DNA in each gamete, and contains all of the genetic information of a new individual organism.
Selfish genetic elements are genetic segments that can enhance their own transmission at the expense of other genes in the genome, even if this has no positive or a net negative effect on organismal fitness. Genomes have traditionally been viewed as cohesive units, with genes acting together to improve the fitness of the organism. However, when genes have some control over their own transmission, the rules can change, and so just like all social groups, genomes are vulnerable to selfish behaviour by their parts.
Symbiogenesis is the leading evolutionary theory of the origin of eukaryotic cells from prokaryotic organisms. The theory holds that mitochondria, plastids such as chloroplasts, and possibly other organelles of eukaryotic cells are descended from formerly free-living prokaryotes taken one inside the other in endosymbiosis. Mitochondria appear to be phylogenetically related to Rickettsiales bacteria, while chloroplasts are thought to be related to cyanobacteria.
Mitochondrial DNA is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts.
The plastid is a membrane-bound organelle found in the cells of plants, algae, and some other eukaryotic organisms. They are considered to be intracellular endosymbiotic cyanobacteria. Examples include chloroplasts, chromoplasts, and leucoplasts.
D-loop replication is a proposed process by which circular DNA like chloroplasts and mitochondria replicate their genetic material. An important component of understanding D-loop replication is that many chloroplasts and mitochondria have a single circular chromosome like bacteria instead of the linear chromosomes found in eukaryotes. However, many chloroplasts and mitochondria have a linear chromosome, and D-loop replication is not important in these organelles. Also, not all circular genomes use D-loop replication as the process of replicating its genome.
Heteroplasmy is the presence of more than one type of organellar genome within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases. Because most eukaryotic cells contain many hundreds of mitochondria with hundreds of copies of mitochondrial DNA, it is common for mutations to affect only some mitochondria, leaving most unaffected.
Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are heteroplasmic. It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors.
Non-Mendelian inheritance is any pattern 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.
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.
petite (ρ–) is a mutant first discovered in the yeast Saccharomyces cerevisiae. Due to the defect in the respiratory chain, 'petite' yeast are unable to grow on media containing only non-fermentable carbon sources and form small colonies when grown in the presence of fermentable carbon sources. The petite phenotype can be caused by the absence of, or mutations in, mitochondrial DNA, or by mutations in nuclear-encoded genes involved in oxidative phosphorylation. A neutral petite produces all wild type progeny when crossed with wild type.
A nuclear gene is a gene whose physical DNA nucleotide sequence is located in the cell nucleus of a eukaryote. The term is used to distinguish nuclear genes from genes found in mitochondria or chloroplasts. The vast majority of genes in eukaryotes are nuclear.
Extrachromosomal DNA is any DNA that is found off the chromosomes, either inside or outside the nucleus of a cell. Most DNA in an individual genome is found in chromosomes contained in the nucleus. Multiple forms of extrachromosomal DNA exist, and, while some of these serve important biological functions, they can also play a role in diseases, such as ecDNA in cancer.
In genetics, paternal mtDNA transmission and paternal mtDNA inheritance refer to the incidence of mitochondrial DNA (mtDNA) being passed from a father to his offspring. Paternal mtDNA inheritance is observed in a small proportion of species; in general, mtDNA is passed unchanged from a mother to her offspring, making it an example of non-Mendelian inheritance. In contrast, mtDNA transmission from both parents occurs regularly in certain bivalves.
Cytoplasmic male sterility is total or partial male sterility in plants as the result of specific nuclear and mitochondrial interactions. Male sterility is the failure of plants to produce functional anthers, pollen, or male gametes.
NUMT, pronounced "new might", is an acronym for "nuclear mitochondrial DNA" segment coined by evolutionary geneticist, Jose V. Lopez, which describes a transposition of any type of cytoplasmic mitochondrial DNA into the nuclear genome of eukaryotic organisms.
Organellar DNA (oDNA) is DNA contained in organelles (such as mitochondria and chloroplasts), outside the nucleus of Eukaryotic cells.
The CoRR hypothesis states that the location of genetic information in cytoplasmic organelles permits regulation of its expression by the reduction-oxidation ("redox") state of its gene products.
Uniparental inheritance is a non-Mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father. This phenomenon is most commonly observed in eukaryotic organelles such as mitochondria and chloroplasts. This is because such organelles contain their own DNA and are capable of independent mitotic replication that does not endure crossing over with the DNA from another parental type. Although uniparental inheritance is the most common form of inheritance in organelles, there is increased evidence of diversity. Some studies found doubly uniparental inheritance (DUI) and biparental transmission to exist in cells. Evidence suggests that even when there is biparental inheritance, crossing-over doesn't always occur. Furthermore, there is evidence that the form of organelle inheritance varied frequently over time. Uniparental inheritance can be divided into multiple subtypes based on the pathway of inheritance.
Biparental inheritance is a type of biological inheritance where the progeny inherits a maternal and a paternal allele for one gene. It is one of the criteria for Mendelian inheritance. Sexual reproduction, where offspring result from the fusion of gametes from two parents, is the most common form of biparental inheritance. While less common, cases of biparental inheritance in extranuclear genes have been documented, such as biparental inheritance of mitochondrial DNA, or chloroplast DNA in plants. Biparental inheritance of nuclear DNA by way of sexual reproduction can allow for new combinations of alleles from each contributing parent. The production of gametes through meiosis can sometimes include recombination, or crossing-over, which is a possibility for novel combinations of alleles.