Search results for " Variation"
showing 10 items of 1712 documents
Genetic variations in the endangered Sicilian endemic Brassica rupestris: proposals for a conservation strategy
2012
Brassica rupestris Raf. is a chasmophyte species that includes two subspecies, both endemic to Central-Western Sicily (Italy). Inter-Simple Sequence Repeat (ISSR) markers were used to detect genetic diversity within and among eight populations representative of the species' distribution range. High levels of genetic diversity were revealed both at the population (PPB = 53.88%, HS = 0.212, Sh = 0.309) and at the species level (PPB = 96.55%, HT = 0.307, Sh = 0.464). The correlation between genetic and geographical distances was negative (Mantel test, r = -0.06, P < 0.95). The two subspecies of B. rupestris, subsp. rupestris and subsp. hispida, showed remarkable genetic similarity and molec…
Past, present and future of mountain species of the French Massif Central - the case ofSoldanella alpinaL. subsp.alpina(Primulaceae) and a review of …
2012
Aim Our goals were: (1) to investigate patterns of genetic variation in the French Massif Central (MC) of Soldanella alpina (Primulaceae), an alpine plant species that has only one known population in the region; (2) to analyse these patterns in order to deduce the Quaternary history of the population and to predict how current climatic warming may affect it; and (3) to review molecular analyses from the MC to evaluate the importance of the region for the conservation of genetic diversity. Location Europe, with a special focus on the French Massif Central and adjacent regions. Methods Amplified fragment length polymorphisms (AFLPs) were analysed for 192 individuals (nine populations) of …
Macro- and microgeographic genetic structure in an ant species with alternative reproductive tactics in sexuals
2011
The genetic structure of social insect populations is influenced by their social organization and dispersal modes. The ant Hypoponera opacior shows diverse reproductive behaviours with regular cycles of outbreeding via winged sexuals and inbreeding via within-nest mating wingless sexuals that reproduce by budding. This unusual life cycle should be reflected in the genetic population structure, and we studied this on different scales using microsatellites. On a macrogeographic scale, populations were considerably structured and migration rates within the Chiricahuas were higher than those in between mountain ranges. On a local scale, our analyses revealed population viscosity through depende…
Genetic diversity and structure of natural and managed populations of Cedrus atlantica (Pinaceae) assessed using random amplified polymorphic DNA
2011
Cedrus atlantica (Pinaceae) is a large and exceptionally long-lived conifer native to the Rif and Atlas Mountains of North Africa. To assess levels and patterns of genetic diversity of this species, samples were obtained throughout the natural range in Morocco and from a forest plantation in Arbúcies, Girona (Spain) and analyzed using RAPD markers. Within-population genetic diversity was high and comparable to that revealed by isozymes. Managed populations harbored levels of genetic variation similar to those found in their natural counterparts. Genotypic analyses of molecular variance (AMOVA) found that most variation was within populations, but significant differentiation was also found b…
Genetic Diversity of Mute Swan Population of the Riga Urban Area
2015
Abstract Mute swan Cygnus olor is the most abundant breeding swan species in Rīga and Latvia. Since manmade habitats are the preferred breeding habitats of this species - Cygnus olor is of particular interest in studies of urban biodiversity. The latest records show that 30-40 pairs breed annually in Rīga, 400-700 individuals migrate through the area, and 120-150 individuals stay over winter. The goal of our study was to determine the genetic variation of the mute swan population in Rīga. Blood samples were collected from 47 individual birds found in different sites in Rīga or elsewhere in Latvia. The universal retrotransposon based iPBS markers were used to estimate diversity. Three primer…
Epigenetic Diversity of Clonal White Poplar (Populus alba L.) Populations: Could Methylation Support the Success of Vegetative Reproduction Strategy?
2015
The widespread poplar populations of Sardinia are vegetatively propagated and live in different natural environments forming large monoclonal stands. The main goals of the present study were: i) to investigate/measure the epigenetic diversity of the poplar populations by determining their DNA methylation status; ii) to assess if and how methylation status influences population clustering; iii) to shed light on the changes that occur in the epigenome of ramets of the same poplar clone. To these purposes, 83 white poplar trees were sampled at different locations on the island of Sardinia. Methylation sensitive amplified polymorphism analysis was carried out on the genomic DNA extracted from l…
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
2010
Contains fulltext : 89306.pdf (Publisher’s version ) (Open Access) PURPOSE: It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients. METHODS: DFNB31 was screened in 149 USH2, 29 USH1, six atypical USH, and 11 unclassified USH patients from diverse ethnic backgrounds. Mutation detection was performed by direct sequencing of all coding exons. RESULTS: We identified 38 diff…
Fingerprinting and diversity of bacterial copA genes in response to soil types, soil organic status and copper contamination
2007
A molecular fingerprinting assay was developed to assess the diversity of copA genes, one of the genetic determinants involved in bacterial resistance to copper. Consensus primers of the copA genes were deduced from an alignment of sequences from proteobacterial strains. A PCR detection procedure was optimized for bacterial strains and allowed the description of a novel copA genetic determinant in Pseudomonas fluorescens. The copA DNA fingerprinting procedure was optimized for DNA directly extracted from soils differing in their physico-chemical characteristics and in their organic status (SOS). Particular copA genetic structures were obtained for each studied soil and a coinertia analysis …
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…
Genetic Variability and Phylogenetic Relationships within Trypanosoma cruzi I Isolated in Colombia Based on Miniexon Gene Sequences
2010
Phylogenetic studies ofTrypanosoma cruzihave identified the existence of two groups:T. cruziI andT. cruziII. There are aspects that still remain unknown about the genetic variability within theT. cruziI group. Given its epidemiological importance, it is necessary to have a better understanding ofT. cruzitransmission cycles. Our purpose was to corroborate the existence of haplotypes within theT. cruziI group and to describe the genetic variability and phylogenetic relationships, based on single nucleotide polymorphisms (SNPs) found in the miniexon gene intergenic region, for the isolates from different hosts and epidemiological transmission cycles in Colombian regions. 31T. cruziisolates wer…