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PubMed2026

Polyploidy Arithmetic.

Polyploidy occurs in plants and animals, and is an important force in speciation and genome evolution. The main focus of this paper is the following fundamental question that was recently posed by Huber and Maher: Given the ploidy numbers of a collection of extant species, or their ploidy profile, what is the smallest number of hybridizations needed in any evolutionary history for these species to completely represent these numbers? In this paper, we shall show that this question can be rephrased in terms of addition chains and the closely related addition sequences, which have been studied for over a century in mathematics and computer science. These are sequences of natural numbers that start with 1, so that each number in the sequence larger than 1 is the sum of two other numbers arising earlier in the sequence. In our first main result, we show that finding the smallest number of hybridization events to explain a ploidy profile, or the hybrid number, is equivalent to solving the so-called addition sequence problem. This immediately implies that computing the hybridization number is computationally intractable. Even so, it also leads to new connections to representing polyploid evolution using networks. More specifically, in our second main result we show that ploidy profiles representable by tree-child networks are exactly the addition chains, implying a polynomial-time algorithm for identifying these profiles. We then consider beaded tree-child networks, which permit the representation of autopolyploidy events, and in our third main result we provide a greedy polynomial-time algorithm to decide whether a given profile can be realized by such a network. We expect that our results can be leveraged in future work through, for example, making use of known algorithms for computing short addition sequences to give bounds for the hybrid number, and in guiding network reconstruction for polyploid species.

Polyploidy↗
PubMed1989

Similarities among plant virus (+) and (-) RNA termini imply a common ancestry with promoters of eukaryotic tRNAs.

The 5' ends of brome mosaic virus (BMV) RNAs contain sequences similar to the consensus internal control region (ICR) of pol III promoters in tRNA genes. Comparison of BMV (+)RNA 5' termini with BMV (-)RNA termini revealed the presence of two (tandem) repeats of some 30 nucleotides, the more internal containing a region of 73% similarity to the tRNA consensus ICR2 (downstream) region of the ICR. Tandem repeats containing motifs similar to the ICR2 consensus were found at the 5' termini of (-)RNAs of cucumo-, tobamo-, and tymoviruses whose 3' (+)RNAs have aminoacylatable tRNA-like structures. Single regions of homology to the BMV(+)RNA 5' terminus, containing an ICR2-like motif, were detected for several tobravirus RNAs, and for satellite tobacco necrosis virus RNA. The (+)-stranded genomes of these viruses have not been shown to be capable of amino acid esterification. The ICR2 consensus (GGUUCGANUCC) is nearly palindromic, and is contained with the T psi C loop of tRNAs and viral analogs. Consequently, tRNA promoter-like motifs can be seen at both termini of (+) and (-) RNAs of bromoviruses and other viruses. The presence of ICR1 and ICR2-like sequences in BMV genomic 5' (+)RNAs and the tobamovirus 5' (-)RNAs may reflect promoter arrangements of primordial genomic RNAs ancestral to both modern plant viruses and eukaryotic tRNAs. Several derivative concepts related to genome evolution are discussed, including the origin of asymmetric strand synthesis of RNAs.

Base Sequence↗
PubMed1992

Genes and genomes of parasitic nematodes.

Our knowledge of gene and genome organization in nematodes is growing rapidly, partly as a result of the Caenorhabditis elegans genome project. Here Martin Hammond and Ted Bianco review what is known about the organization of genes and genomes in parasitic nematode species, using information gained from molecular and cytological approaches. They suggest that there are implications not only for a wide range of problems in parasitology but also for our understanding of genome evolution in eukaryotes.

Journal Article↗
PubMed1982

Repetitive DNA and polyploidy in selachians.

1. The DNA reassociation kinetics have been studied in 6 selachian species: Raja asterias, Raja montagui, Dasyatis violacea, Torpedo marmorata, Torpedo ocellata and Oxynotus centrina. 2. The results obtained show that the genomes of the two Torpedo, Dasyatis and Oxynotus are polyploid if compared with those of the two rays, though this finds no correspondence in the diploid chromosome number. 3. The phenomena of polyploidization would often be followed by wide chromosome rearrangements and by a progressive divergence of the various repetitive DNA sequences. 4. The existence of polyploidy in almost all the main superorders of living Selachians suggests that this mechanism of genomic evolution may have played an important role in the phylogeny of this class.

Animals↗
PubMed1986

Size and structure of the bird genome--I. DNA content of 48 species of Neognathae.

The nuclear DNA content was evaluated in 48 species of Neognathae birds belonging to 13 orders, namely Anseriformes, Charadriiformes, Columbiformes, Ciconiiformes, Falconiformes, Galliformes, Gruiformes, Passeriformes, Pelicaniformes, Phoenicopteriformes, Piciformes, Psittaciformes and Strigiformes. The DNA content, expressed in pg/nucleus, ranges from 2.81 to 4.97. The genome size variability within and among families is discussed on the basis of the Hinegardner's (1976) model of genome evolution.

Animals↗
PubMed1993

Bacterial plasmids: their extraordinary contribution to molecular genetics.

Reviewed here are certain of the extraordinary contributions to molecular genetics that have resulted from the study of bacterial plasmids. Work with plasmids has led to both the 'operon' and 'replicon' concepts, and has provided seminal information about bacterial conjugation and fertility, recombination, transposable genetic elements, genome evolution and antisense RNA. Studies of plasmid functions have yielded important findings about the regulation of DNA replication, DNA topology and partitioning, gene control signals and restriction/modification enzymes. Plasmids have had a central role in the development of DNA cloning (recombinant DNA) methods; additionally, they have provided a paradigm for both the co-transformation of non-selected DNA into eukaryotic cells and the creation of the artificial chromosomes.

Bacteria↗
PubMed1995

Comparative mapping reveals extensive linkage conservation--but with gene order rearrangements--between the pig and the human genomes.

A porcine comparative map based on 83 coding loci was constructed. Comparisons to the human and mouse genetic maps revealed linkage conservation between humans and pigs more extensive than that between any of these and the mouse. The average lengths of conserved chromosome segments between pig and human and between pig and mouse were estimated at 37 and 21 cM, respectively. Rearrangements of gene orders within homologous chromosome segments were found to be common among these distantly related mammals. The development of a comparative map is an advance in pig genome analysis and contributes to the dissection of mammalian genome evolution.

Animals↗
PubMed2005

A test of Chargaff's second rule.

In 1968, Chargaff and his colleagues discovered a rule in Bacillus subtilis: in single stranded DNA, A=T and C=G. This rule has since been confirmed many times in other bacterial and eukaryotic genomes. To the best of our knowledge, this rule has not been tested before in either single stranded DNA or RNA genomes. Over 3400 genomic sequences were examined here and included for the first time both double and single stranded DNA and RNA genomes. We found that: (1) with the exception of the organellar DNA, this parity rule holds for all types of double stranded DNA genomes and (2) that this rule fails to hold for other types of genomes. The parity rule appears to be a selective force on genome evolution and codon use.

Archaea↗
PubMed2004

Towards a splicing code.

A combination of experimental and bioinformatics approaches leads Burge and colleagues (Wang et al., 2004 [this issue of Cell]) to a global view of how an RNA segment may be selected or avoided in mature mRNAs due to biased distributions of exonic enhancers and silencers, a process vital for genome evolution, developmental control, and disease onset.

Algorithms↗
PubMed2004

DNA-cytosine deaminases: from antibody maturation to antiviral defense.

The deamination of cytosines in DNA to uracil, thought to be initiated by free water within the cells, is a well studied pathway by which C to T mutations occur. Until recently, this conversion was frequently referred to as being spontaneous because of the involvement of cellular water. The recent discovery of a family of enzymes in mammalian cells that catalyze this reaction was unexpected and has created excitement in at least two areas of biology, immunology and virology. One of these enzymes, activation-induced cytidine deaminase (AID), is required for the final steps in the maturation of antibodies. The key features of this process include the introduction of a wide variety of base substitutions in the immunoglobulin genes and the creation of region-specific double-strand breaks. Another member of this family, Apobec3G, is involved in the mutational inactivation and degradation of the human immunodeficiency virus (HIV-1). Among the many intriguing features of these processes is the likely involvement of the enzyme that is thought to "protect" cellular DNA against the accumulation of uracils, uracil-DNA glycosylase (UDG). It appears that in certain situations, the newly discovered DNA-cytosine deaminases can team up with UDG to extensively mutate and degrade DNA. This article discusses the many questions raised regarding the role of these enzymes in protecting cells against infections, and about their possible roles in genome evolution and carcinogenesis.

Cytidine Deaminase↗
PubMed2005

Cellular response to horizontally transferred DNA in Escherichia coli is tuned by DNA repair systems.

We studied how DNA divergence between recombining DNAs and the mismatch repair system modulate the SOS response in Escherichia coli. The observed positive log-linear correlation between SOS induction and DNA divergence, and the negative correlation between SOS induction and frequency of recombination, suggest that the level of SOS induction precisely reflects the difficulty of RecA protein to initiate a productive strand exchange process. Our results suggest that the mismatch repair system could contribute to this SOS induction more by affecting the RecA-catalyzed homology search than by acting on mismatched recombination intermediates. The propensity of the recombination machinery to promote recombination between the blocks of sequences with the highest identity results in the increasing ratios of merodiploids (partial diploids) over genuine recombinants (homologous replacements) with increasing DNA divergence. We discuss the role of molecular mechanisms involved in the control of the recombination between diverged DNA sequences in the maintenance of genomic stability and genome evolution.

Conjugation, Genetic↗
PubMed2003

Apicoplast genome of the coccidian Eimeria tenella.

Unicellular apicomplexans possess an algal-originated plastid referred to as an apicoplast. Although apicomplexan parasites are comprised of highly diverse protists, the complete apicoplast genome sequences have only been determined from the hematozoan Plasmodium falciparum and cyst-forming coccidian Toxoplasma gondii. Here, we report the third complete sequence of apicoplast genome from the intestinal coccidian Eimeria tenella that may serve as a new drug target against coccidiosis in the livestock. The AT-rich E. tenella plastid genome is a 35-kb circular element. Its gene organization resembles more closely that of T. gondii than P. falciparum. Although the E. tenella plastid genome contains an almost identical set of genes to that found in P. falciparum and T. gondii, its encoded genes share low or moderate homologies with their counterparts in the other two apicomplexans. With the addition of this coccidian plastid genome sequence, we attempted to reexamine the apicoplast genome evolution and performed phylogenetic reconstructions using maximum likelihood and Bayesian inference (BI) methods based on a concatenated dataset of plastid-encoded rpoB, rpoC1 and rpoC2 proteins. All resulting rpo protein trees placed apicoplast as a sister to Euglena within the green lineage. On the other hand, many recent studies based on the organization of plastid genes and some nuclear-encoded plastid proteins have supported a common red algal ancestry of apicomplexan and dinoflagellate plastids. If the apicoplast indeed originated from a red ancestor, the green relationship of apicomplexan genes would probably imply that the ancestral host that gave rise to the (red) apicoplast might have already contained some primary green plastid genes.

Animals↗
PubMed2006

Life without GAG: the BARE-2 retrotransposon as a parasite's parasite.

A large proportion of the plant LTR (Long Terminal Repeat) retrotransposons are partly or completely unable to synthesize their own machinery for transposition. However, most of these inactive or non-autonomous elements are likely able to retrotranspose, based on their insertional polymorphism. Therefore, they must be parasitic on one or more active partners. Here, we describe the parasitism of the chimeric BARE-2 element on the active BARE-1 (Barley RetroElement-2 and -1 respectively). These two elements are present in the Triticeae and related species, and are together polymorphic among closely related accessions. BARE-2 elements are unable to synthesize their own GAG protein, and harbor a specific ATG deletion in the gag ORF. However, BARE-2 sequences are conserved with BARE-1 in the PBS (Primer Binding Site), PSI (Packaging SIgnal) and DIS (DImerization Signal) domains. As these motifs have been shown to allow parasitism among the lentiviruses, we conclude that BARE-2 is probably a partial parasite of the BARE-1 element because the machinery of the latter can complement the defective GAG of the former. This example emphasizes that we must characterize the parasitic network of LTR retrotransposons and its implication for integration of autonomous, inactive, and non-autonomous elements in order to understand current and past host genome evolution.

Base Sequence↗
PubMed2004

A phase transition for a random cluster model on phylogenetic trees.

We investigate a simple model that generates random partitions of the leaf set of a tree. Of particular interest is the reconstruction question: what number k of independent samples (partitions) are required to correctly reconstruct the underlying tree (with high probability)? We demonstrate a phase transition for k as a function of the mutation rate, from logarithmic to polynomial dependence on the size of the tree. We also describe a simple polynomial-time tree reconstruction algorithm that applies in the logarithmic region. This model and the associated reconstruction questions are motivated by a Markov model for genomic evolution in molecular biology.

Cluster Analysis↗
PubMed2004

IMGT-ONTOLOGY and IMGT databases, tools and Web resources for immunogenetics and immunoinformatics.

The international ImMunoGeneTics information system (IMGT; http://imgt.cines.fr), is a high quality integrated information system specialized in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex (MHC), and related proteins of the immune system (RPI) of human and other vertebrates, created in 1989, by the Laboratoire d'ImmunoGénétique Moléculaire (LIGM; Université Montpellier II and CNRS) at Montpellier, France. IMGT provides a common access to standardized data which include nucleotide and protein sequences, oligonucleotide primers, gene maps, genetic polymorphisms, specificities, 2D and 3D structures. IMGT consists of several sequence databases (IMGT/LIGM-DB, IMGT/MHC-DB, IMGT/PRIMER-DB), one genome database (IMGT/GENE-DB) and one 3D structure database (IMGT/3Dstructure-DB), interactive tools for sequence analysis (IMGT/V-QUEST, IMGT/JunctionAnalysis, IMGT/PhyloGene, IMGT/Allele-Align), for genome analysis (IMGT/GeneSearch, IMGT/GeneView, IMGT/LocusView) and for 3D structure analysis (IMGT/StructuralQuery), and Web resources ("IMGT Marie-Paule page") comprising 8000 HTML pages. IMGT other accesses include SRS, FTP, search by BLAST, etc. By its high quality and its easy data distribution, IMGT has important implications in medical research (repertoire in autoimmune diseases, AIDS, leukemias, lymphomas, myelomas), veterinary research, genome diversity and genome evolution studies of the adaptive immune responses, biotechnology related to antibody engineering (single chain Fragment variable (scFv), phage displays, combinatorial libraries) and therapeutical approaches (grafts, immunotherapy). IMGT is freely available at http://imgt.cines.fr.

Animals↗
PubMed2005

Dosage balance in gene regulation: biological implications.

Classical studies in genetics involving aneuploidy and ploidy comparisons and sex-determination mechanisms indicated a balance phenomenon such that changes of individual chromosomal dosage altered the phenotype more dramatically than changes in ploidy. Recent evidence suggests that a major contributor to this balance is the behavior of molecular complexes that function in various regulatory processes affecting gene expression. In this article, we discuss the potential contribution of regulatory balance to the control of quantitative traits, hybrid vigor, genome evolution and post-zygotic speciation mechanisms.

Aneuploidy↗
PubMed2006

Unequal genetic redundancies in Arabidopsis--a neglected phenomenon?

Genetic redundancy is a common phenomenon in Arabidopsis and is thought to be responsible for the absence of phenotypes in the majority of single loss-of-function mutants. In this review, we highlight an increasing number of examples in which redundancy between homologous genes is limited or absent despite functional equivalence of the respective proteins. In particular, we focus on cases of unequal redundancy, where the absence of a mutant phenotype in loss-of-function mutants of one gene contrasts with a strong phenotype in mutants of its homolog. In the double mutants, this phenotype is strongly enhanced. Possible explanations for such scenarios are discussed. We propose that the study of unequally redundant gene pairs offers a unique opportunity to understand global patterns of functional genome evolution.

Arabidopsis↗
PubMed2024

Strategic targeting of Cas9 nickase induces large segmental duplications.

Gene/segmental duplications play crucial roles in genome evolution and variation. Here, we introduce paired nicking-induced amplification (PNAmp) for their experimental induction. PNAmp strategically places two Cas9 nickases upstream and downstream of a replication origin on opposite strands. This configuration directs the sister replication forks initiated from the origin to break at the nicks, generating a pair of one-ended double-strand breaks. If homologous sequences flank the two break sites, then end resection converts them to single-stranded DNAs that readily anneal to drive duplication of the region bounded by the homologous sequences. PNAmp induces duplication of segments as large as ∼1 Mb with efficiencies exceeding 10% in the budding yeast Saccharomyces cerevisiae. Furthermore, appropriate splint DNAs allow PNAmp to duplicate/multiplicate even segments not bounded by homologous sequences. We also provide evidence for PNAmp in mammalian cells. Therefore, PNAmp provides a prototype method to induce structural variations by manipulating replication fork progression.

Saccharomyces cerevisiae↗