The evolutionary dynamics of the Helena retrotransposon revealed by sequenced Drosophila genomes

<p>Abstract</p> <p>Background</p> <p>Several studies have shown that genomes contain a mixture of transposable elements, some of which are still active and others ancient relics that have degenerated. This is true for the non-LTR retrotransposon <it>Helena</it>, of which only degenerate sequences have been shown to be present in some species (<it>Drosophila melanogaster</it>), whereas putatively active sequences are present in others (<it>D. simulans</it>). Combining experimental and population analyses with the sequence analysis of the 12 <it>Drosophila </it>genomes, we have investigated the evolution of <it>Helena</it>, and propose a possible scenario for the evolution of this element.</p> <p>Results</p> <p>We show that six species of <it>Drosophila </it>have the <it>Helena </it>transposable element at different stages of its evolution. The copy number is highly variable among these species, but most of them are truncated at the 5' ends and also harbor several internal deletions and insertions suggesting that they are inactive in all species, except in <it>D. mojavensis </it>in which quantitative RT-PCR experiments have identified a putative active copy.</p> <p>Conclusion</p> <p>Our data suggest that <it>Helena </it>was present in the common ancestor of the <it>Drosophila </it>genus, which has been vertically transmitted to the derived lineages, but that it has been lost in some of them. The wide variation in copy number and sequence degeneration in the different species suggest that the evolutionary dynamics of <it>Helena </it>depends on the genomic environment of the host species.</p

The Genetic History of Indigenous Populations of the Peruvian and Bolivian Altiplano: The Legacy of the Uros

The Altiplano region of the South American Andes is marked by an inhospitable climate to which the autochthonous human populations adapted and then developed great ancient civilizations, such as the Tiwanaku culture and the Inca Empire. Since pre-Columbian times, different rulers established themselves around the Titicaca and Poopo Lakes. By the time of the arrival of Spaniards, Aymara and Quechua languages were predominant on the Altiplano under the rule of the Incas, although the occurrence of other spoken languages, such as Puquina and Uruquilla, suggests the existence of different ethnic groups in this region. In this study, we focused on the pre-Columbian history of the autochthonous Altiplano populations, particularly the Uros ethnic group, which claims to directly descend from the first settlers of the Andes, and some linguists suggest they might otherwise be related to Arawak speaking groups from the Amazon. Using phylogeographic, population structure and spatial genetic analyses of Y-chromosome and mtDNA data, we inferred the genetic relationships among Uros populations (Los Uros from Peru, Uru-Chipaya and Uru-Poopo from Bolivia), and compared their haplotype profiles with eight Aymara, nine Quechua and two Arawak (Machiguenga and Yanesha) speaking populations from Peru and Bolivia. Our results indicated that Uros populations stand out among the Altiplano populations, while appearing more closely related to the Aymara and Quechua from Lake Titicaca and surrounding regions than to the Amazon Arawaks. Moreover, the Uros populations from Peru and Bolivia are genetically differentiated from each other, indicating a high heterogeneity in this ethnic group. Finally, our results support the distinctive ancestry for the Uros populations of Peru and Bolivia, which are likely derived from ancient Andean lineages that were partially replaced during more recent farming expansion events and the establishment of complex civilizations in the Andes

Geoepidemiology of American Cutaneous Leishmaniasis (ACL) in the South of Rondônia, Brazilian Amazon

American Cutaneous Leishmaniasis (ACL) is one of the parasites with specific characteristics in several regions of Brazil. In recent years, there have been variations in the increase in the number of cases of this disease in different regions of the country. In the state of Rondônia, ACL is considered one of the endemic diseases. Objective: This study described epidemiological aspects of ACL in a subspace of Rondônia, Western Amazon, in the period between 2012 and 2013. Method: This is a retrospective epidemiological study developed in 02 municipalities located in the south of Rondônia according to with model developed by Paraguassu-Chaves [3] comprising the municipalities of Vilhena and Chupinguaia. Results: The study revealed that 370 human cases of ACL were reported in the study period. The male gender predominated with (89.5%) of the total cases, the age range (20 to 39) years (36.6%) prevailed, low schooling (80%) had a maximum of complete elementary education (62.5%). The greatest number of cases came from the urban zone (66.9%), resulting from the adaptation of sandflies to the periurbanization of cities in the Amazon, as predicted by Paraguassu-Chaves [3]. Some of these variables presented significant differences when compared to production and distribution in the State of Rondônia. Prevalence of autochthonous cases was 81.7%. Regarding the clinical aspects, the cutaneous lesion (CL) predominated with 90.8% of the new cases. As expected, the cases confirmed by confirmation criteria indicate 89.5% clinical-laboratory confirmation in the studied subspace and 94% in the State of Rondônia. Of the cases confirmed by evolution of the case prevailed to cure with 77.5% and 12.5% ignored or recorded in the blank. The dropout still stands out negatively with 8.4%. Conclusion: The ACL presents a public health problem due to its high endemicity. It was identified some important epidemiological variables for the study in the Brazilian Amazon and that can condition and / or determine areas associated with possible risks of infection by the parasites

From cheek swabs to consensus sequences : an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes

Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA genomes (of humans and other animals). Despite the increasing use of NGS technologies and a better appreciation of their importance in answering biological questions, there remain significant obstacles to the successful implementation of NGS-based projects, especially for new users. Results: Here we present an ‘A to Z’ protocol for obtaining complete human mitochondrial (mtDNA) genomes – from DNA extraction to consensus sequence. Although designed for use on humans, this protocol could also be used to sequence small, organellar genomes from other species, and also nuclear loci. This protocol includes DNA extraction, PCR amplification, fragmentation of PCR products, barcoding of fragments, sequencing using the 454 GS FLX platform, and a complete bioinformatics pipeline (primer removal, reference-based mapping, output of coverage plots and SNP calling). Conclusions: All steps in this protocol are designed to be straightforward to implement, especially for researchers who are undertaking next-generation sequencing for the first time. The molecular steps are scalable to large numbers (hundreds) of individuals and all steps post-DNA extraction can be carried out in 96-well plate format. Also, the protocol has been assembled so that individual ‘modules’ can be swapped out to suit available resources

Neolithic Mitochondrial Haplogroup H Genomes and the Genetic Origins of Europeans

Haplogroup H dominates present-day Western European mitochondrial DNA variability (\u3e40%), yet was less common (~19%) among Early Neolithic farmers (~5450 BC) and virtually absent in Mesolithic hunter-gatherers. Here we investigate this major component of the maternal population history of modern Europeans and sequence 39 complete haplogroup H mitochondrial genomes from ancient human remains. We then compare this ‘real-time’ genetic data with cultural changes taking place between the Early Neolithic (~5450 BC) and Bronze Age (~2200 BC) in Central Europe. Our results reveal that the current diversity and distribution of haplogroup H were largely established by the Mid Neolithic (~4000 BC), but with substantial genetic contributions from subsequent pan-European cultures such as the Bell Beakers expanding out of Iberia in the Late Neolithic (~2800 BC). Dated haplogroup H genomes allow us to reconstruct the recent evolutionary history of haplogroup H and reveal a mutation rate 45% higher than current estimates for human mitochondria

Evidence for Reductive Genome Evolution and Lateral Acquisition of Virulence Functions in Two Corynebacterium pseudotuberculosis Strains

Ruiz JC, D'Afonseca V, Silva A, et al. Evidence for Reductive Genome Evolution and Lateral Acquisition of Virulence Functions in Two Corynebacterium pseudotuberculosis Strains. PLoS ONE. 2011;6(4): e18551.Background: Corynebacterium pseudotuberculosis, a Gram-positive, facultative intracellular pathogen, is the etiologic agent of the disease known as caseous lymphadenitis (CL). CL mainly affects small ruminants, such as goats and sheep; it also causes infections in humans, though rarely. This species is distributed worldwide, but it has the most serious economic impact in Oceania, Africa and South America. Although C. pseudotuberculosis causes major health and productivity problems for livestock, little is known about the molecular basis of its pathogenicity. Methodology and Findings: We characterized two C. pseudotuberculosis genomes (Cp1002, isolated from goats; and CpC231, isolated from sheep). Analysis of the predicted genomes showed high similarity in genomic architecture, gene content and genetic order. When C. pseudotuberculosis was compared with other Corynebacterium species, it became evident that this pathogenic species has lost numerous genes, resulting in one of the smallest genomes in the genus. Other differences that could be part of the adaptation to pathogenicity include a lower GC content, of about 52%, and a reduced gene repertoire. The C. pseudotuberculosis genome also includes seven putative pathogenicity islands, which contain several classical virulence factors, including genes for fimbrial subunits, adhesion factors, iron uptake and secreted toxins. Additionally, all of the virulence factors in the islands have characteristics that indicate horizontal transfer. Conclusions: These particular genome characteristics of C. pseudotuberculosis, as well as its acquired virulence factors in pathogenicity islands, provide evidence of its lifestyle and of the pathogenicity pathways used by this pathogen in the infection process. All genomes cited in this study are available in the NCBI Genbank database (http://www.ncbi.nlm.nih.gov/genbank/) under accession numbers CP001809 and CP001829