Search results for "Polymorphism"
showing 10 items of 1968 documents
tbg - a new file format for genomic data
2021
AbstractMotivationThe question of determining whether a Single-Nucleotide Polymorphism (SNP) or a variant in general leads to a change in the amino acid sequence of a protein coding gene is often a laborious and time-consuming challenge. Here, we introduce the tbg file format for storing genomic data and tbg-tools, a user-friendly toolbox for the faster analysis of SNPs. The file format stores information for each nucleotide in each gene, allowing to predict which change in the amino acid sequence will be caused by a variant in the nucleotide sequence. Our new tool therefore has the potential to make biological sense of the unprecedented amount of genome-wide genetic variation that research…
Superionicity and polymorphism in calcium fluoride at high pressure.
2014
We present a combined experimental and computational first-principles study of the superionic and structural properties of CaF2 at high P-T conditions. We observe an anomalous superionic behavior in the low-P fluorite phase that consists in a decrease of the normal-> superionic critical temperature with compression. This unexpected effect can be explained in terms of a P-induced softening of a zone-boundary $X$ phonon which involves exclusively fluorine displacements. Also we find that superionic conductivity is absent in the high-P cotunnite phase. Instead, superionicity develops in a new low-symmetry high-T phase that we identify as monoclinic (space group P2_1/c). We discuss the possi…
Association between DRD2/DRD4 interaction and conduct disorder: a potential developmental pathway to alcohol dependence
2013
1 Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil 2 King’s College London, Institute of Psychiatry, MRC Social Genetic and Developmental Psychiatry Centre, London, United Kingdom, UK 3 Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany 4 Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands 5 Psychology Department, National University of Singapore, Singapore, Singapore 6 Department of Psychiatry, Donders Institute for Brain, Cognition an…
A population genetic study of the endangered plant speciesLimonium dufourii(Plumbaginaceae) based on amplified fragment length polymorphism (AFLP)
1999
Limonium dufourii (Plumbaginaceae) is a triploid species with obligate apomictic reproduction and is endemic to the East Mediterranean coast of Spain, where it is present in only six populations, most of which have a very low number of individuals. Genetic variation and population structure in this species was studied using amplified fragment length polymorphisms (AFLPs) as markers, using the same individuals as in a previous study with random amplified polymorphic DNA (RAPD). Three different primers provided 252 bands of which 51 were polymorphic among the 152 individuals analysed. Those polymorphic bands were able to define 65 different phenotypes, of which all but two were present in onl…
Phylogenetic relationships, evolutionary origin, taxonomic status, and genetic structure of the endangered local Lower Elbe river (Germany) endemic O…
2005
Abstract Oenanthe conioides is an endangered local endemic of the Lower Elbe river region in Germany where it is found in areas with freshwater tides. Internal transcribed spacer (ITS) and amplified fragment length polymorphism (AFLP) markers were used to investigate its phylogenetic relationships, evolutionary origin, taxonomic status, and genetic structure. Oe. conioides is most closely related to Oe. aquatica and Oe. fluviatilis, and cannot be distinguished from Oe. aquatica by ITS sequence variation. Oe. aquatica is found mainly in standing or slow-flowing freshwater habitats. The AFLP analysis indicated that Oe. conioides may constitute a monophyletic lineage nested within Oe. aquatica…
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
1999
SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …
Impact of crop species on bacterial community structure during anaerobic co-digestion of crops and cow manure
2008
The bacterial communities in three continuously stirred tank reactors co-digesting cow manure with grass silage, oat straw, and sugar beet tops, respectively, were investigated by 16S rRNA gene-based fingerprints and clone libraries. The analyses revealed both clearly distinct and similar phylotypes in the bacterial communities between the reactors. The major groups represented in the three reactors were Clostridia, unclassified Bacteria, and Bacteroidetes. Phylotypes affiliated with Bacilli or Deltaproteobacteria were unique to the sugar beet and straw reactor, respectively. Unclassified Bacteria dominated in sugar beet reactor while in the straw and grass reactor Clostridia was the domina…
Phase transition in bis(ethyldimethylammonium) pentachloroantimonate(III)
1999
The crystal structure of a new member of the alkylammonium chloroantimonate family, namely bis-(ethyldimethylammonium) pentachloroantimonate(III), [C 2 H 5 NH(CH 3 ) 2 ] 2 [SbCl 5 ], was determined at room temperature. The anionic sublattice consists of isolated distorted square-pyramidal [SbCl 5 ] 2- units and two crystallographically inequivalent disordered ethyldimethylammonium cations connected to anions by NH...Cl hydrogen bonds. The disorder is realised by the presence of two positions for all C, N and H atoms, and is explained as being a result of the overall reorientation of cations along the long axis of the molecule. One second-order phase transition was found at ca 160 K and resu…
Polymorphism and “reverse” spin transition in the spin crossover system [Co(4-terpyridone)2](CF3SO3)2·1H2O
2009
[EN] Compound [Co(4-terpyridone)(2)](CF3SO3)(2)center dot 1H(2)O, where 4-terpyridone is 2,6-bis(2-pyridyl)-4(1H)-pyridone, forms two polymorphs. Polymorph 1 displays a continuous spin conversion in the temperature region 300-120 K while polymorph 2 shows, on cooling, the onset of a continuous high-spin (HS) to low-spin (LS) conversion interrupted by an abrupt "reverse'' spin transition in the temperature region 217-203 K. The formed unstable HS intermediate phase (IP) undergoes a strong cooperative "normal'' spin transition characterised by a hysteresis loop 33 K wide. The structural data give support for a crystallographic phase transition, which takes place concomitantly with the "revers…
Molecular Identification of Yeasts Associated with Traditional Egyptian Dairy Products
2009
This study aimed to examine the diversity and ecology of yeasts associated with traditional Egyptian dairy products employing molecular techniques in yeast identification. A total of 120 samples of fresh and stored Domiati cheese, kariesh cheese, and "Matared" cream were collected from local markets and examined. Forty yeast isolates were cultured from these samples and identified using the restriction-fragment length polymorphism (RFLPs) of 5.8S-ITS rDNA region and sequencing of the domains D1 and D2 of the 26S rRNA gene. Yeasts were identified as Issatchenkia orientalis (13 isolates), Candida albicans (4 isolates), Clavispora lusitaniae (Candida lusitaniae) (9 isolates), Kodamaea ohmeri (…