Search results for "Genetics"

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible suscep…

2014

Item does not contain fulltext Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our disc…

TOTAL GENETIC SCORE: AN INSTRUMENT TO IMPROVE THE PERFORMANCE IN THE ELITE ATHLETES

2018

In vitro evolution of an atrazine-degrading population under cyanuric acid selection pressure: Evidence for the selective loss of a 47kb region on th…

2011

International audience; The adaptation of microorganisms to pesticide biodegradation relies on the recruitment of catabolic genes by horizontal gene transfer and homologous recombination mediated by insertion sequences (IS). This environment-friendly function is maintained in the degrading population but it has a cost which could diminish its fitness. The loss of genes in the course of evolution being a major mechanism of ecological specialization, we mimicked evolution in vitro by sub-culturing the atrazine-degrading Pseudomonas sp. ADP in a liquid medium containing cyanuric acid as the sole source of nitrogen. After 120 generations, a new population evolved, which replaced the original on…

Stepping up to genome scan allows stock differentiation in the worldwide distributed blue shark Prionace glauca

2023

The blue shark Prionace glauca is a top predator with one of the widest geographic distributions of any shark species, yet classified as critically endangered in the Mediterranean Sea, and Near Threatened globally. Previous genetic studies did not reject the null hypothesis of a single global population across the worldwide species range. Blue shark situation was proposed as a possible archetype of the ‘grey zone of population differentiation’, coined to designate cases where population structure may be too recent or too faint to be detected using a limited set of markers. Here, blue shark samples collected throughout its global range were sequenced using a specific ddRAD method (DArTseq; G…

Bayesian estimation of partial population continuity using ancient DNA and spatially explicit simulations.

2017

Abstract The retrieval of ancient DNA from osteological material provides direct evidence of human genetic diversity in the past. Ancient DNA samples are often used to investigate whether there was population continuity in the settlement history of an area. Methods based on the serial coalescent algorithm have been developed to test whether the population continuity hypothesis can be statistically rejected by analysing DNA samples from the same region but of different ages. Rejection of this hypothesis is indicative of a large genetic shift, possibly due to immigration occurring between two sampling times. However, this approach is only able to reject a model of full continuity model (a tot…

Molecular Basis for the Regulation of Cell Fate by the Lethal (2) Giant Larvae Tumour Suppressor Gene of Drosophila Melanogaster

2007

Tumour suppressor genes act as recessive determinants of cancer. Their function is required for normal cell growth and differentiation during development. When both alleles of these developmental genes are inactivated, cell growth becomes unrestricted. In Drosophila, a series of genes have been identified which when mutated produce tissue-specific tumours. Of these the lethal(2)giant larvae (l(2)gl) gene is the best studied. Homozygous l(2)gl mutations cause the development of malignant tumours in the brain and the imaginal discs. Genomic DNA from the l(2)gl locus has been cloned, introduced back into l(2)gl mutant animals by P-element-mediated transformation and shown to restore normal dev…

The influence of backslopping on lactic acid bacteria diversity in tarhana fermentation

2020

Tarhana is produced at batch systems in which the microbiota has changed accordingly to the microbial load from ingredients. In order to stabilize the microbiota, the effects of backslopping carried out under different temperature regimes (25 and 30 °C), pH (3.70 and 4.00) and inoculation rates (5, 10 and 15%) on lactic acid bacteria (LAB) diversity were determined in tarhana dough. LAB and Total Aerobic Mesophilic Bacteria (TAMB) numbers increased in all tarhana dough samples subjected to backslopping. Temperature and pH significantly affected the microbiological diversity of tarhana whereas the different inoculation rates did not. Tarhana dough showed complex tarhana microbiota following …

Genomic Data from an Ancient European Battlefield Indicates On-Going Strong Selection on a Genomic Region Associated with Lactase Persistence Over th…

2020

Lactase persistence (LP), the continued expression of lactase into adulthood, is the most strongly selected single gene trait over the last 10,000 years in multiple human populations. It has been posited that the primary allele causing LP among Eurasians, rs4988235*T (Enattah et al. 2008), only rose to appreciable frequencies during the Bronze and Iron Ages (Mathieson et al 2015; Olalde et al. 2018), long after humans started consuming milk from domesticated animals. This rapid rise has been attributed to an influx of peoples from the Pontic-Caspian steppe that began around 5,000 years ago (Allentoft et al. 2015; Furholt et al. 2016). We investigate the spatiotemporal spread of LP through a…

Exceptional mobility of an advancing rhyolitic obsidian flow at Cordón Caulle volcano in Chile

2013

The emplacement mechanisms of rhyolitic lava flows are enigmatic and, despite high lava viscosities and low inferred effusion rates, can result in remarkably, laterally extensive (30 km) flow fields. Here we present the first observations of an active, extensive rhyolitic lava flow field from the 2011-2012 eruption at Cordón Caulle, Chile. We combine high-resolution four-dimensional flow front models, created using automated photo reconstruction techniques, with sequential satellite imagery. Late-stage evolution greatly extended the compound lava flow field, with localized extrusion from stalled, ~35 m-thick flow margins creating80 breakout lobes. In January 2013, flow front advance continu…

Tropical Atlantic temperature seasonality at the end of the last interglacial

2015

The end of the last interglacial period, ~118 kyr ago, was characterized by substantial ocean circulation and climate perturbations resulting from instabilities of polar ice sheets. These perturbations are crucial for a better understanding of future climate change. The seasonal temperature changes of the tropical ocean, however, which play an important role in seasonal climate extremes such as hurricanes, floods and droughts at the present day, are not well known for this period that led into the last glacial. Here we present a monthly resolved snapshot of reconstructed sea surface temperature in the tropical North Atlantic Ocean for 117.7±0.8 kyr ago, using coral Sr/Ca and δ18O records. W…