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At least 955 records · Page 53Linked to original sources
PubMed1992

A longitudinal study of porcine serological responses to experimental infections with T-1 and T-3 Spanish Trichinella isolates.

Comparison of antibody response and antigen recognition was made by ELISA and western-blot analysis in pig experimental infections by T-1 and T-3 Spanish Trichinella isolates. Two groups of Iberian pigs were experimentally infected with 150 larvae/kg body weight of GM-1 and C-76 Spanish Trichinella isolates as representatives of T-1 and T-3 gene pools respectively. Antibody levels and antigen recognition were measured on days -14, 0, 6, 16, 20, 27, 34, 49, 63 and 82 after infection by ELISA and western-blotting assays. Antibody response against C-76 infection was significantly delayed and lower than against GM-1. The two Trichinella isolates were indistinguishable, however, by western blotting analysis, although recognition of larval antigens was quantitatively higher than adult ones. Interestingly, the principle larval antigenic components recognized by pigs were those recognized by the monoclonal anti-sera NIM-M1. Finally, there were no serological patterns indicative of the stage of infection ("antibody windows") discriminating, for example between early versus late infections.

Animals↗
PubMed2000

Body-weight regulation: causes of obesity.

The aetiology and treatment of obesity have been fraught with disappointment for researchers, because the mechanisms that control fuel homeostasis and adiposity are incompletely understood. It is assumed that regulatory processes match the dietary fuel supply with energy requirements in order to maintain a stable body mass and adiposity. In this context several theories have been proposed to explain the laws of thermodynamics describing the conservation and transformation of energy in living organisms. In the light of new evidence it can now be hypothesized that the control of body weight and composition depends on an axis with three interrelated and self-controlled components: (1) food intake; (2) nutrient turnover and thermogenesis; (3) body fat stores. Complex feedback mechanisms underlie all these components. The major factors involved in obesity seem to be dietary and physical activity habits. These factors are affected by susceptibility genes that in turn may influence energy expenditure, fuel metabolism, muscle fibre function and appetite or food preferences. However, the increasing rates of obesity cannot be explained exclusively by changes in the gene pool, although genetic variants that were previously 'silent' are now being triggered by the high availability of energy- and fat-dense foods, and by the increasingly sedentary lifestyle of modern societies. The study of factors such as genetics and lifestyle implicated in weight gain and obesity is crucial for predictions about the future impact of the global epidemic of obesity, and provides a unique opportunity for the implementation of preventive action.

Body Weight↗
PubMed2006

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.

Historical events have shaped the various regional gene pools of the French-Canadian (FC) population, leading to increased prevalence of some rare diseases. The first studies of these founder effects were performed in large part by astute clinicians such as André Barbeau. In collaboration with others, he contributed greatly to the delineation of phenotypic subtypes of these conditions. As such, the following neurogenetic disorders were first identified in patients of FC origin: AOA2, ARSACS, HSAN2, RAB, and HMSN/ACC. We have summarized our current knowledge of the main hereditary ataxias, spastic parapareses and neuropathies that are particular to the FC population. The initial genetic characterization of the more common and homogeneous of these diseases has been largely completed. We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities.

Central Nervous System↗
PubMed1991

Detection of novel trimethoprim resistance determinants in the United Kingdom using biotin-labelled DNA probes.

Two collections of trimethoprim R plasmids, isolated from strains of Escherichia coli during 1978-83 and 1987-8 respectively, were retrospectively screened with specific biotinylated DNA probes for the presence of genes encoding particular DHFR enzymes. The results confirmed that the type I DHFR gene was the predominant plasmid-encoded gene conferring trimethoprim resistance in strains of E. coli from the Nottingham area of the UK, but indicated that genes encoding the more recently recognized types of DHFR enzymes had appeared in the bacterial gene pool and could be recognized with increased frequency in the latter plasmid collection. This was particularly true of the type IIIa and type VII enzymes which together accounted for 27% of the trimethoprim R plasmids examined in 1987-8.

Animals↗
PubMedDate not supplied

Optical imaging of orientation and ocular dominance maps in area 17 of cats with convergent strabismus.

Strabismus (or squint) is both a well-established model for developmental plasticity of the brain and a frequent clinical symptom. While the layout and topographic relationship of functional domains in area 17 of divergently squinting cats has been analyzed extensively in recent years (e.g. Löwel et al., 1998), functional maps in convergently squinting animals have so far not been visualized with comparable detail. We have therefore investigated the functional organization of area 17 in adult cats with a surgically induced convergent squint angle. In these animals, visual acuity was determined by both behavioral tests and recordings of visual evoked potentials, and animals with comparable acuities in both eyes were selected for further experiments. The functional layout of area 17 was visualized using optical imaging of intrinsic signals. Monocular iso-orientation domains had a patchy appearance and their layout was different for left and right eye stimulation, so that segregated ocular dominance domains could be visualized. Iso-orientation domains exhibited a pinwheel-like organization, as previously described for normal and divergently squinting cats. Mean pinwheel density was the same in the experimental and control animals (3.4 pinwheel centers per mm2 cortical surface), but significantly (P < 0.00001) higher than that reported previously for normal and divergently squinting cats (2.7/mm2). A comparison of orientation with ocular dominance maps revealed that iso-orientation domains were continuous across the borders of ocular dominance domains and tended to intersect these borders at steep angles. However, in contrast to previous reports in normally raised cats, orientation pinwheel centers showed no consistent topographical relationship to the peaks of ocular dominance domains. Taken together, these observations indicate an overall similarity between the functional layout of orientation and ocular dominance maps in area 17 of convergently and divergently squinting cats. The higher pinwheel densities compared with previous reports suggest that animals from different gene pools might generally differ in this parameter and therefore also in the space constants of their cortical orientation maps.

Animals↗
PubMed1998

Tandem duplication of nucleolus organizer region (NOR) in the Japanese macaque, Macaca fuscata fuscata.

During exploration of chromosome polymorphisms in Japanese macaques, a heteromorphic polymorphism was found in a population in the Zigokudani monkey park. The population consisted of three troops (social units). Of 36 monkeys examined, five females showed heterozygotic 'marker' chromosome (chromosome 9). The polymorphism was a tandem duplication of the nucleolus organizer region (NOR) of the short arm of chromosome 9, which was found for the first time in the genus Macaca. FISH and fibre-FISH using human 18S rDNA and sequential silver nitrate staining revealed that the duplicated region included a part of the euchromatic satellite and the stalk and that the euchromatic block (intercalary satellite) divided the NOR into two parts (distal and proximal). Furthermore, it showed that the distal region possessed much more rDNA than the proximal region, and that the duplications might have been introduced via a mechanism of gene amplification (inverted duplications associated with over-replication and recombination events). As the tandem duplication was observed sporadically in four maternal pedigrees in two troops and the mothers of the variants all had normal chromosomes, the variation might have been introduced from another population's gene pool by a solitary male immigrant.

Animals↗
PubMed2001

Environmental bacteriophage-host interactions: factors contribution to natural transduction.

Over the past two decades the potential for the exchange of bacterial genes in natural environments through transduction (bacteriophage-mediated gene transfer) has been well established. Studies carried out by various laboratories throughout the world have demonstrated that both chromosomal and plasmid DNA can be successfully transduced in natural environments ranging from sewer plants to rivers and lakes. Transduction has been shown to take place in the gills of oysters and the kidneys of mice. Model studies have demonstrated the ability of transduction to maintain genetic material in bacterial gene pools that would otherwise be lost because of negative fitness. Thus, transduction may affect the course of bacterial evolution. Identification of natural transduction has led to the investigation of the dynamics of bacteriophage host interactions in natural aquatic environments and to the exploration of various environmental factors that affect virus-host interactions. Two important environmental factors which affect virus-host interactions are the metabolic state of the host and the exposure of the host to DNA-damaging stresses such as solar UV light. Recent researches on these two areas of virus-host relationships are reviewed.

Bacteria↗
PubMed1998

Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.

Anesthesia-induced malignant hyperthermia (MH) is a rare inherited disorder of skeletal muscle. Several mutations in the ryanodine receptor (RYR1) have been found to be causative of MH. The G1021A mutation in the RYR1 is one of the most frequently occurring mutations in European populations. MH normal (165) and MH susceptible (114) North American patients were screened for the presence of the G1021A mutation. This mutation was not found in any of the patients tested. These studies support the absence of this mutation in the normal population. Furthermore, these findings emphasize the importance of viewing the distribution of MH mutations as variable gene pools with frequencies dependent on the geographical location of the population examined.

DNA↗
PubMed1999

Mexican geneticists' views of ethical issues in genetics testing and screening. Are eugenic principles involved?

Herein we discuss Mexican geneticists' views of ethical issues in genetic testing and screening, analyzing whether eugenic principles are involved in this activity. The information was obtained from a comprehensive survey on genetics, ethics, and society organized by Wertz and Fletcher in 1993, in which 37 nations participated. The responses to 21 questions from 64 out of 89 (72%) geneticists invited to participate are analyzed in this paper. The questions were practically the same as those answered recently by a group of Chinese geneticists (Mao X. Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China. Am J Hum Genet 1998: 63: 688-695), who work in a country where the furtherance of eugenic principles is considered to be the goal of human genetics. We concluded that although there are many similarities in the answers from both countries, this is not indicative of Mexican geneticists pursuing eugenic goals because: a) there is no coercion involved; and b) there is no intention of improving the gene pool.

China↗
PubMed2002

Molecular diversity of the HLA-A*19 group of alleles in North Indians: possible oriental influence.

The present study aims to determine the genetic diversity of the HLA-A19 allelic family in the North Indian and Japanese populations. The HLA-A*19 group of alleles occurred at similar frequencies in North Indians and Japanese as in Caucasians. All the known serological splits of HLA-A19 were observed among the North Indians, i.e. A*33 (15.6%), A*32 (8.6%), A*31 (3.5%), A*30 (3%), A*29 (1.2%) and A*74 (0.77%), while only A*30 (0.7%), A*31 (17.6%) and A*33 (11.7%) were observed in the Japanese. High resolution analysis indicated that the A*29, A*30, A*31 and A*32 alleles were represented by only single subtypes among the North Indians while the HLA-A*33 group comprised two alleles, A*3301 (4.3%) and A*3303 (43.7%). All 15 of the HLA-A*33 positive samples from the Tamil population of South India were found to be A*3303. One novel subtype of A*33, A*3306 was also observed in the North Indian sample. Conversely, only one subtype each of A*30, A*31 and A*33 was encountered in the Japanese population, of which A*3101 and A*3303 were the most frequent (58.5% and 39%, respectively, among the HLA-A*19 group of alleles). All other subtypes of A19 were not found in the Japanese in the present study. The study suggests a significant amount of genetic admixture in the North Indian gene pool from other racial groups, with profound oriental influence.

Alleles↗
PubMedDate not supplied

Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop.

Mitochondrial DNA (mtDNA) is unusual in its rapid rate of evolution and high level of intraspecies sequence variation. The latter is thought to be related to the strict maternal inheritance of mtDNA, which effectively isolates within a species mitochondrial gene pools that accumulate mutations and vary independently. A fundamental and as yet unexplained aspect of this process is how, in the face of somatic and germ-line mtDNA ploidy of 10(3) to 10(5) (refs 4, 5), individual variant mtDNA molecules resulting from mutational events can come to dominate the large intracellular mtDNA population so rapidly. To help answer this question, we have determined here the nucleotide sequence of all or part of the D-loop region in 14 maternally related Holstein cows. Four different D-loop sequences can be distinguished in the mtDNA of these animals. One explanation is that multiple mitochondrial genotypes existed in the maternal germ line and that expansion or segregation of one of these genotypes during oogenesis or early development led to the rapid genotypic shifts observed.

Animals↗
PubMed1988

Estimation of genetic trend in racing performance of thoroughbred horses.

Thoroughbred horses have been bred exclusively for racing in England since Tudor times and thoroughbred horse racing is now practised in over 40 countries and involves more than half-a-million horses worldwide. The genetic origins of the thoroughbred go back largely to horses imported from the Middle East and North Africa to England in the late seventeenth and early eighteenth centuries. Since the establishment of the Stud Book in 1791, the population has been effectively closed to outside sources, and over 80% of the thoroughbred population's gene pool derives from 31 known ancestors from this early period. Despite intense directional selection, especially on the male side, and the generally high heritabilities of various measures of racing performance, winning times of classic races have not improved in recent decades. One possible explanation for this is that additive genetic variance in performance may have been exhausted in the face of strong selection. To test this, we have estimated the genetic trend in performance over the period 1952-77 using TIMEFORM handicap ratings which are based entirely on the horse's own performance, and express its racing merit as a weight in pounds which the compilers believe the horse should carry in an average free-handicap race. These ratings take into account such factors as the firmness of the ground, the distance and the level of the competition. Our results indicate that the failure of winning times to improve is not due to insufficient genetic variance in the thoroughbred population as a whole.

Animals↗
PubMed1995

A nuclear 'fossil' of the mitochondrial D-loop and the origin of modern humans.

Mammalian mitochondrial DNA sequences evolve more rapidly than nuclear sequences. Although the rapid rate of evolution is an advantage for the study of closely related species and populations, it presents a problem in situations where related species, used as outgroups in phylogenetic analyses, have accumulated so much change that multiple substitutions obliterate the phylogenetic information. However, mitochondrial DNA sequences are frequently inserted into the nuclear genome, where they presumably evolve as nuclear pseudogene sequences and therefore more slowly than their mitochondrial counterparts. Such sequences thus represent molecular 'fossils' that could shed light on the evolution of the mitochondrial genome and could be used as outgroups in situations where no appropriate outgroup species exist. Here we show that human chromosome 11 carries a recent integration of the mitochondrial control region that can be used to gain further insight into the origin of the human mitochondrial gene pool.

Animals↗
PubMed1996

Genetic differentiation and phylogenetic relationships among Greek Salmo trutta L. (brown trout) populations as revealed by RFLP analysis of PCR amplified mitochondrial DNA segments.

The genetic differentiation and phylogenetic relationships of 13 populations (11 from Greece, one from Albania and one from France) of brown trout (Salmo trutta L.) were investigated at the mtDNA level. RFLP analysis of four segments of mitochondrial DNA (D-loop, cytochrome b and ND-5/6) amplified by PCR was used. Seven of 14 restriction endonucleases were found to detect variability in the ND-5/6 regions, whereas four and two out of 17 and 16 were polymorphic in the D-loop and cytochrome b, respectively. Eleven different haplotypes were observed. The observed interpopulation diversity was very high (mean = 1.65 per cent), whereas the intrapopulation diversity was low in most cases (mean = 0.063 per cent). Five phylogenetic assemblages were identified. The results demonstrate that Greece is one of the regions where brown trout display very high levels of genetic diversity. Most populations were genetically very distinct, possessing private mtDNA genotypes. Therefore, they represent unique gene pools which may warrant individual recognition for conservation and management. The genetic relationships among populations suggested by mtDNA data were not in accordance with allozyme data. This study illustrates the importance of considering the historical biogeography of a species in order to understand its population genetic structure. It also reinforces the view that mtDNA analysis represents a powerful tool to study past and present demographic phenomena.

Albania↗
PubMed2006

The scaling laws of human travel.

The dynamic spatial redistribution of individuals is a key driving force of various spatiotemporal phenomena on geographical scales. It can synchronize populations of interacting species, stabilize them, and diversify gene pools. Human travel, for example, is responsible for the geographical spread of human infectious disease. In the light of increasing international trade, intensified human mobility and the imminent threat of an influenza A epidemic, the knowledge of dynamical and statistical properties of human travel is of fundamental importance. Despite its crucial role, a quantitative assessment of these properties on geographical scales remains elusive, and the assumption that humans disperse diffusively still prevails in models. Here we report on a solid and quantitative assessment of human travelling statistics by analysing the circulation of bank notes in the United States. Using a comprehensive data set of over a million individual displacements, we find that dispersal is anomalous in two ways. First, the distribution of travelling distances decays as a power law, indicating that trajectories of bank notes are reminiscent of scale-free random walks known as Lévy flights. Second, the probability of remaining in a small, spatially confined region for a time T is dominated by algebraically long tails that attenuate the superdiffusive spread. We show that human travelling behaviour can be described mathematically on many spatiotemporal scales by a two-parameter continuous-time random walk model to a surprising accuracy, and conclude that human travel on geographical scales is an ambivalent and effectively superdiffusive process.

Diffusion↗
PubMed1996

Genetic transformation of cassava (Manihot esculenta Crantz).

Genetic engineering can be used to complement traditional breeding methods in crop plant improvement. Transfer of genes from heterologous species provides the means of selectively introducing new traits into crop plants and expanding the gene pool beyond what has been available to traditional breeding systems. The prerequisites for genetic engineering are efficient transformation and tissue culture systems that allow selection and regeneration of transgenic plants. Cassava, an integral plant for food security in developing countries, has until now been recalcitrant to transformation approaches. We report here a method for regenerating stably transformed cassava plants after cocultivation with Agrobacterium tumefaciens, which opens cassava for future improvement via biotechnology.

Agrobacterium tumefaciens↗
PubMed2004

An Icelandic example of the impact of population structure on association studies.

The impact of population structure on association studies undertaken to identify genetic variants underlying common human diseases is an issue of growing interest. Spurious associations of alleles with disease phenotypes may be obtained or true associations overlooked when allele frequencies differ notably among subpopulations that are not represented equally among cases and controls. Population structure influences even carefully designed studies and can affect the validity of association results. Most study designs address this problem by sampling cases and controls from groups that share the same nationality or self-reported ethnic background, with the implicit assumption that no substructure exists within such groups. We examined population structure in the Icelandic gene pool using extensive genealogical and genetic data. Our results indicate that sampling strategies need to take account of substructure even in a relatively homogenous genetic isolate. This will probably be even more important in larger populations.

Genetic Diseases, Inborn↗