Nomenclature of transposable elements in prokaryotes.

Transposable elements are defined as specific DNA segments that can repeatedly insert into a few or many sites in a genome. They are classified as simple IS elements, more complex Tn transposons and self-replicating episomes. Definitions and nomenclature rules for these three classes of prokaryotic transposable elements are specified.     

Nomenclature of transposable elements in prokaryotes.

Transposable elements are defined as specific DNA segments that can repeatedly insert into a few or many sites in a genome. They are classified as simple IS elements, more complex Tn transposons, and self-replicating episomes. Definitions and nomenclature rules for these three classes of prokaryotic transposable elements are specified.     

Evolutionary dynamics of transposable elements in prokaryotes and eukaryotes

This paper summarizes some recent theories about the evolution of transposable genetic elements in outbreeding, sexual eukaryotic organisms. The evolutionary possibilities available to self-replicating transposable elements are shown to vary depending on the reproductive biology of the host genome. This effect can be used to explain, in part, the differences in abundance of transposable elements between prokaryotes and eukaryotes. It is argued that the pattern of sexual outbreeding seen in mammals and plants is especially favorable to the spread of transposons. Moreover, because transposon spread is facilitated by zygote formation, the evolutionary origin of sexual conjugation may have been due to selection on transposon-encoded genes. Finally, evidence is also presented that introns could have originated as transposable genetic elements.     

Distribution of transposable elements in Drosophila species

We present a global analysis of the distribution of 43 transposable elements (TEs) in 228 species of the Drosophila genus from our data and data from the literature. Data on chromosome localization come from in situ hybridization and presence/absence of the elements from southern analyses. This analysis shows great differences between TE distributions, even among closely related species. Some TEs are distributed according to the phylogeny of their host specie; others do not entirely follow the phylogeny, suggesting horizontal transfers. A higher number of insertion sites for most TEs in the genome of D. melanogaster is observed when compared with that in D. simulans. This suggests either intrinsic differences in genomic characteristics between the two species, or the influence of differing effective population sizes, although biases due to the use of TE probes coming mostly from D. melanogaster and to the way TEs are initially detected in species cannot be ruled out. Data on TEs more specific to the species under consideration are necessary for a better understanding of their distribution in organisms and populations. This revised version was published online in July 2006 with corrections to the Cover Date.     

Distribution of transposable elements in neotropical species of Drosophila

The phylogenetic distribution of transposable families, P, gypsy, hobo, I, and mariner has been analyzed in 33 species of 11 groups of neotropical Drosophila and a Drosophilidae species Zygotrica vittimaculosa, using squash blot and dot blot. Genomic DNA of almost all neotropical species tested hybridized with gypsy probe and some species showed a particularly strong hybridization signal, as D. gaucha, D. virilis, and species of flavopilosa group. The hobo element was restricted to melanogaster group and some strains of D. willistoni. Only D. simulans DNA showed hybridization to mariner probe in all species tested and D. simulans and D. melanogaster showed hybridization with I element probe. P element homologous sequence was present in D. melanogaster and all species and strains of the willistoni and saltans groups tested. The presence of at least one P-homologous sequence was detected in Drosophila mediopunctata. This one was the only P-bearing species of all six tested from the tripunctata group. Four different pairs of primers homologous to segments of the canonical sequence of D. melanogaster's P were used to amplify specific sequences from D. mediopunctata DNA, showing the occurrence of seemingly well-conserved P-homologous sequences. This revised version was published online in July 2006 with corrections to the Cover Date.     

Distribution of hobo transposable elements in the genus Drosophila

This study describes the distribution of hobo-hybridizing sequences in the genus Drosophila. Southern blot analysis of 134 species revealed that hobo sequences are limited to the melanogaster and montium subgroups of the melanogaster-species group. Of the hobo-bearing species, only D. melanogaster and two of its sibling species, D. simulans and D. mauritiana, were found to contain potentially complete hobo elements. The distribution of hobo sequences is one of the narrowest distributions thus far described for any Drosophila transposable element.     

Mosquito transposable elements

The completion of the genome assembly for the African malaria mosquito, Anopheles gambiae, and continuing genomic efforts for the yellow fever mosquito, Aedes aegypti, have allowed the use of bioinformatics tools to identify and characterize a diverse array of transposable elements (TEs) in these and other mosquito genomes. An overview of the types and number of both RNA-mediated and DNA-mediated TEs that are found in mosquito genomes is presented. A number of novel and interesting TEs from these species are discussed in more detail. These findings have significant implications for our understanding of mosquito genome evolution and for future modifications of natural mosquito populations through the use of TE-mediated genetic transformation.     

Plant transposable elements

Biochemical and genetical analysis of plant transposons has shown that these elements can induce unstable mutations and also that the transposon structure can be altered in different ways. Upon insertion, a transposon can give rise to a variety of chromosomal changes in the vicinity of the insertion site. The alterations range from the nucleotide level to large-scale rearrangements.     

Distribution of hobo transposable elements in natural populations of Drosophila melanogaster.

Forty-six strains derived from American and French natural populations of Drosophila melanogaster were tested for the presence and activity of hobo elements by using Southern blotting and a gonadal dysgenesis assay. The oldest available strains exhibited weak detectable hybridization to the hobo-element probe and revealed neither hobo-activity potential nor hobo-repression potential. In contrast, all recently collected strains harbored hobo sequences and revealed a strong hobo-repression potential but no strong hobo-activity potential. On the basis of restriction-enzyme analysis, old strains appear to have numerous fragments hybridizable to hobo sequences, several probably conserved at the same locations in the genome of the tested strain and others dispersed. In recently isolated strains, and unlike the situation in the published sequence of the cloned hobo108 element, a PvuII site is present in the great majority of full-sized hobo elements and their deletion derivatives. When the genetic and molecular characteristics are considered together, the available evidence is consistent with the hypothesis of a worldwide hobo-element invasion of D. melanogaster during the past 50 years. Comparison of data from the I-R and P-M systems suggests that the putative invasion followed the introduction of the I element but preceded that of the P element. This hypothesis poses the problem of the plausibility of three virtually simultaneous element invasions in this species. Such a possibility might be due to a modification of the genetic structure of American populations of D. melanogaster during the first part of the 20th century.     

Foldback transposable elements in plants

A novel transposon family was discovered in plants. This family, designated SoFT (Solanaceae Foldback Transposon), exhibit striking structural similarity to the foldback class of animal transposons. SoFT elements consist of a middle segment surrounded by long terminal inverted repeats. Two of the identified SoFT elements have classical foldback structure: their inverted repeats are divided into two domains. The outer domain consists of tandemly arranged subrepeats, whereas the inner domain is non-repetitive and AT-rich. The existence of foldback elements in plants as well as in animals suggests that long inverted repeat (foldback) transposons are ubiquitous among eukaryotes.     

Role of transposable elements in trypanosomatids

Transposable elements constitute 2-5% of the genome content in trypanosomatid parasites. Some of them are involved in critical cellular functions, such as the regulation of gene expression in Leishmania spp. In this review, we highlight the remarkable role extinct transposable elements can play as the source of potential new functions.     

CRISPR相关转座元件的研究及应用进展

CRISPR-Cas的基因编辑能力引发了人们对该系统的研究热潮。除了实现基因的敲除和插入,CRISPR-Cas系统还可以被应用于基因簇重组、单碱基编辑和基因转录调控,推动了生物工程领域的发展。然而,有限的同源重组效率使CRISPR-Cas系统的应用受到了一定的限制。与CRISPR-Cas系统相比,移动遗传元件(mobile genetic elements,MGE)在转座酶的调控下,不需要依赖同源重组即可将指定DNA片段定向插入到细胞染色体中。近几年,人们发现了具有转座机制的CRISPR相关的转座元件,它可以介导DNA靶向整合,同时其出色的重编程能力为该领域的研究带来了新的发展。本文主要介绍近年来CRISPR-Cas系统相关转座元件的研究方向和应用进展,以及人工融合的dCas9-transposase系统的应用策略。文中还提出了CRISPR相关转座元件未来的应用前景和潜在挑战,为基因编辑工具的发展方向提供了参考意见。     

Alfalfa transposable elements and variegation

Alfalfa with unstable anthocyanin pigmentation has been independently discovered on six occasions since 1958. Genetic studies showed that each of the six unstable stocks was due to an allele mutable at the basic anthocyanin locus C2 in alfalfa. The alleles are designated c2-m1 through c2-m6. Variegated phenotypes of m1, m2, and m3 are similar and express reversion from the recessive to the dominant state. This reversion produces streaks and sectors of pigment in flower petals and seeds that are otherwise white. Reversion occurs at various times in development and may result in periclinal chimeras. The c2-m4 allele is unique in that it arose during tissue culture, whereas the other mutables were discovered in plant populations. Interestingly, m4 is very stable in planta and only rarely produces a sectored flower, but is very unstable in vitro as measured by about 23% revertant plants regenerated from tissue cultures. Most m4 reversion occurs relatively early in development and results in completely pigmented in vitro revertants, and in large sectors on in planta revertants. Alleles m5 and m6 are phenotypically and genetically similar. Their flowers are basic purple with white streaks thus representing mutation from dominant purple to recessive white. White progeny of m5 and m6 are very stable both in planta and in vitro; reversion of white to purple was never observed. Thus, the loss of function of the dominant allele results in a stable recessive or a deficiency. The absolute stability of m5 white derivatives favors the deficiency model, because transposable element mutations might show reversion. Finally, several mutations are described that reoccur in the mutable populations. It is speculated that they are recent mutations due to transposition of transposable elements.     

Sectorial mutagenesis by transposable elements

Transposable elements (TEs) generate insertions and cause other mutations in the genomic DNA. It is proposed that during co-evolution between TEs and eukaryotic genomes, an optimal path of the insertion mutagenesis is determined by the surviving TEs. These TEs can become semi-permanently established, chromatin-regulated ‘source’ or ‘mutator genes’, responsible for targeting insertion mutations to specific chromosomal regions. Such mutations can manifest themselves in non-random distribution patterns of interspersed repeats in eukaryotic chromosomes. In this paper we discuss specific models, examples and implications of optimized mutagenesis in eukaryotes. This revised version was published online in July 2006 with corrections to the Cover Date.     

Population genetics of transposable DNA elements

This paper is an attempt to bring together the various, dispersed data published in the literature on insertion polymorphism of transposable elements from various kinds of populations (natural populations, laboratory strains, isofemale and inbred lines). Although the results deal mainly with Drosophila, data on other organisms have been incorporated when necessary to illustrate the discussion. The data pertinent to the regions of insertion, the rates of transposition and excision, the copy number regulation, and the degree of heterozygosity were analysed in order to be confronted with the speculations made with various theoretical models of population biology of transposable elements. The parameters of these models are very sensitive to the values of the transposable element characteristics estimated on populations, and according to the difficulties of these estimations (population not at equilibrium, particular mutations used to estimate the transposition and excision rates, trouble with the in situ technique used to localize the insertions, undesired mobilization of TEs in crosses, spontaneous genome resetting, environmental effects, etc.) it cannot be decided accurately which model better accounts for the population dynamics of these TEs. Tendencies, however, emerge in Drosophila: the copia element shows evidence for deficiency of insertions on the X chromosomes, a result consistent with selection against mutational effects of copia insertions; the P element repartition does not significantly deviate from the neutral assumption, in spite of a systematic copy number of insertions higher on the X than on the autosomes. Data on other elements support either the neutral model of TE containment, neither of the two models, or both. Prudence in conclusion should then be de rigueur when dealing with such kind of data. Finally the potential roles of TEs in population adaptation and evalution are discussed.