Search results for "origin"
showing 10 items of 4356 documents
Neolithic animal domestication as seen from ancient DNA
2018
Abstract In recent years, archaeological, archaeozoological and population genetic studies have increasingly converged on a southwest Asian origin for the four Neolithic farm animals: cattle, sheep, goats, and pigs. The power of ancient DNA studies lies in the possibility of tracking the genetic traces of major demographic processes, such as domestication itself and subsequent migration, at their spatiotemporal sources. In doing so, they are bypassing more recent events, which may have blurred ancient signals until the point of disappearance. Past ancient DNA studies have mostly relied on a single, powerful and – even for degraded ancient samples – easily accessible genetic marker: the mate…
A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects
2017
Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died in utero of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Targeted exome sequencing identified a heterozygous duplication in CSRP1 which leads to a potential frameshift mutation at position 154 of the protein. This mutation is inherited from the father, and segregates only with the CHD phen…
Chance and necessity in the genome evolution of endosymbiotic bacteria of insects.
2017
An open question in evolutionary biology is how does the selection–drift balance determine the fates of biological interactions. We searched for signatures of selection and drift in genomes of five endosymbiotic bacterial groups known to evolve under strong genetic drift. Although most genes in endosymbiotic bacteria showed evidence of relaxed purifying selection, many genes in these bacteria exhibited stronger selective constraints than their orthologs in free-living bacterial relatives. Remarkably, most of these highly constrained genes had no role in the host–symbiont interactions but were involved in either buffering the deleterious consequences of drift or other host-unrelated function…
Artemisinin Derivatives Target Topoisomerase 1 and Cause DNA Damage in Silico and in Vitro
2017
DNA topoisomerases 1 and 2 are enzymes that maintain DNA topology and play important essential genome functions, including DNA replication and transcription. Aberrant topoisomerases cause genome instability and a wide range of diseases, cancer in particular. Both Topo 1 and 2 are the targets of valuable anticancer drugs, such as camptothecin. It has been previously shown that artemisinin, a sesquiterpene lactone from Artemisia annua L. also known as qinghaosu, possesses anti-cancer effects and one of its derivatives, artesunate inhibits Topo 2. In this study, we evaluated artemisinin and 40 derivatives as potential Topo 1 inhibitors at first by in silico molecular docking analyses. Five com…
RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis
2020
Genomic instability in the central nervous system (CNS) is associated with defective neurodevelopment and neurodegeneration. Congenital human syndromes that affect the CNS development originate from mutations in genes of the DNA damage response (DDR) pathways. RINT1 (Rad50-interacting protein 1) is a partner of RAD50, that participates in the cellular responses to DNA double-strand breaks (DSB). Recently, we showed that Rint1 regulates cell survival in the developing brain and its loss led to premature lethality associated with genomic stability. To bypass the lethality of Rint1 inactivation in the embryonic brain and better understand the roles of RINT1 in CNS development, we conditionally…
IFNL3/4 genotype is associated with altered immune cell populations in peripheral blood in chronic hepatitis C infection
2016
Single-nucleotide polymorphisms near the interferon lambda 3 (IFNL3) gene predict outcomes to infection and anti-viral treatment in hepatitis C virus (HCV) infection. To identify IFNL3 genotype effects on peripheral blood, we collected phenotype data on 400 patients with genotype 1 chronic hepatitis C (CHC). The IFNL3 responder genotype predicted significantly lower white blood cells (WBCs), as well as lower absolute numbers of monocytes, neutrophils and lymphocytes for both rs8099917 and rs12979860. We sought to define the WBC subsets driving this association using flow cytometry of 67 untreated CHC individuals. Genotype-associated differences were seen in the ratio of CD4CD45RO+ to CD4CD4…
Trace elements levels in centenarian ‘dodgers’
2016
Trace element bioavailability can play a role in several metabolic and physiological pathways known to be altered during the aging process. We aimed to explore the association of trace elements with increased lifespan by analyzing the circulating levels of seven trace elements (Cr, Cu, Fe, Mn, Mo, Se and Zn) in a cohort of healthy centenarians or ‘dodgers’ (≥100 years, free of major age-related diseases) in comparison with sex-matched younger elderly controls. Centenarians showed significant lower Cu (783.7 (76.7, 1608.9) vs 962.5 (676.3, 2064.4) μg/mL, P < 0.001), but higher Fe (1.3 (0.4, 4.7) vs 1.1 (0.5, 8.4) μg/mL, P = 0.003) and Se (85.7 (43.0, 256.7) vs 77.8 (24.3, 143.8) ng/mL, P = 0…
An assessment of the test-retest reliability of the New Nordic Diet score
2015
Background : There is a growing interest in the New Nordic Diet (NND) as a potentially health promoting, environmentally friendly, and palatable regional diet. Also, dietary scores are gaining ground as a complementary approach for examining relations between dietary patterns and various health outcomes. A score assessing adherence to the NND has earlier been published, yet not tested for reliability. Objective : To assess the test–retest reliability of the NND score in a sample of parents of toddlers, residing in Southern Norway. Design : A questionnaire survey was completed on two occasions, approximately 14 days apart, by 67 parents of toddlers [85% females, mean age 34 years (SD=5.3 yea…
A nutrition intervention with a main focus on vegetables and bread consumption among young men in the Norwegian National Guard
2013
Background : Young men are difficult to reach with conventional nutrition information and they have a low intake of vegetables and whole grain cereals. Few intervention studies have focused on improving young men’s consumption of vegetables and whole grains. Objective : A 5-month intervention focusing on a combination of increased availability of healthy foods and nutritional information was developed to stimulate the intake of vegetables and semi-whole grain bread among a group of young men in the Norwegian military. Subjects : A total of 376 recruits in the intervention group and 105 recruits in the control group participated in the entire study. Results: The average daily increase in con…
Hepatoprotective Effect of Steroidal Glycosides From Dioscorea villosa on Hydrogen Peroxide-Induced Hepatotoxicity in HepG2 Cells
2018
Dioscorea villosa, commonly known as “Wild Yam” and native to North America, is well documented for its pharmacological properties due to the presence of steroidal glycosides. However, the hepatoprotective potential of these compounds has not been studied so far. The present investigation was aimed to study the hepatoprotective effect of the steroidal glycosides from D. villosa against H2O2, a known hepatotoxin, in human liver cell line (HepG2). Cytotoxicity assessment was carried out in cells exposed to various concentrations (10–50 μM) of compounds for 24 h using MTT assay and morphological changes. All tested compounds were known and among them, spirostans (zingiberensis saponin I, diosc…