A Morphological Box for Handling Temporal Data in B2C Systems

User interfaces are key properties of Business-to-Consumer (B2C) systems, and Web-based reservation systems are an important class of B2C systems. In this paper we show that these systems use a surprisingly broad spectrum of different approaches to handling temporal data in their Web inter faces. Based on these observations and on a literature analysis we develop a Morphological Box to present the main options for handling temporal data and give examples. The results indicate that the present state of developing and maintaining B2C systems has not been much influenced by modern Web Engi neering concepts and that there is considerable potential for improvement.

Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels

The level of body iron storage and the erythropoietic need for iron are indicated by the serum levels of ferritin and soluble transferrin receptor (sTfR), respectively. A meta-analysis of five genome-wide association studies on sTfR and ferritin revealed novel association to the PCSK7 and TMPRSS6 loci for sTfR and the HFE locus for both parameters. The PCSK7 association was the most significant (rs236918, P = 1.1 × 10E-27) suggesting that proprotein convertase 7, the gene product of PCSK7, may be involved in sTfR generation and/or iron homeostasis. Conditioning the sTfR analyses on transferrin saturation abolished the HFE signal and substantially diminished the TMPRSS6 signal while the PCSK7 association was unaffected, suggesting that the former may be mediated by transferrin saturation whereas the PCSK7-associated effect on sTfR generation appears to be more direct.

A locus on chromosome 5 is associated with dilated cardiomyopathy in Doberman Pinschers

Dilated cardiomyopathy (DCM) is a heterogeneous group of heart diseases with a strong genetic background. Currently, many human DCM cases exist where no causative mutation can be identified. DCM also occurs with high prevalence in several large dog breeds. In the Doberman Pinscher a specific DCM form characterized by arrhythmias and/or echocardiographic changes has been intensively studied by veterinary cardiologists. We performed a genome-wide association study in Doberman Pinschers. Using 71 cases and 70 controls collected in Germany we identified a genome-wide significant association to DCM on chromosome 5. We validated the association in an independent cohort collected in the United Kingdom. There is no known DCM candidate gene under the association signal. Therefore, DCM in Doberman Pinschers offers the chance of identifying a novel DCM gene that might also be relevant for human health.

Paleoenvironment and Paleoecology of a Late Paleocene High-Latitude Terrestrial Succession, Arkose Ridge Formation at Box Canyon, Southern Talkeetna Mountains, Alaska

Paleogene sedimentary rocks of the Arkose Ridge Formation (Talkeetna Mountains, Alaska) preserve a record of a fluvial-lacustrine depositional environment and its forested ecosystem in an active basin among the convergent margin tectonic processes that shaped southern Alaska. An -800 m measured succession at Box Canyon indicates braid-plain deposition with predominantly gravelly deposits low in the exposure to sandy and muddy facies associations below an overlying lava flow sequence. U-Pb geochronology on zircons from a tuff and a sandstone within the measured section, as well as an Ar/Ar date from the overlying lava constrain the age of the sedimentary succession to between similar to 59 Ma and 48 Ma Fossil plant remains occur throughout the Arkose Ridge Formation as poorly-preserved coalified woody debris and fragmentary leaf impressions. At Box Canyon, however, a thin la-custrine depositional lens of rhythmically laminated mudrocks yielded fish fossils and a well-preserved floral assemblage including foliage and reproductive organs representing conifers, sphenopsids, monocots, and dicots. Leaf physiognomic methods to estimate paleoclimate were applied to the dicot leaf collection and indicate warm temperate paleotemperatures (-11-15 +/- -4 degrees C MAT) and elevated paleoprecipitation (-120 cm/yr MAP) estimates as compared to modem conditions; results that are parallel with previously published estimates from the partly coeval Chickaloon Formation deposited in more distal depositional environments in the same basin. The low abundance of leaf herbivory in the Box Canyon dicot assemblage (-9% of leaves damaged) is also similar to the results from assemblages in the meander-plain depositional systems of the Chickaloon. This new suite of data informs models of the tectonostratigraphic evolution of southern Alaska and the developing understanding of terrestrial paleoecology and paleoclimate at high latitudes during the Late Paleocene-Early Eocene greenhouse climate phase. (c) 2014 Elsevier B.V. All rights reserved.

The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine ASIP locus but does not affect its coding sequence

The gene for agouti signaling protein (ASIP) is centrally involved in the expression of coat color traits in animals. The Mangalitza pig breed is characterized by a black-and-tan phenotype with black dorsal pigmentation and yellow or white ventral pigmentation. We investigated a Mangalitza x Piétrain cross and observed a coat color segregation pattern in the F2 generation that can be explained by virtue of two alleles at the MC1R locus and two alleles at the ASIP locus. Complete linkage of the black-and-tan phenotype to microsatellite alleles at the ASIP locus on SSC 17q21 was observed. Corroborated by the knowledge of similar mouse coat color mutants, it seems therefore conceivable that the black-and-tan pigmentation of Mangalitza pigs is caused by an ASIP allele a(t), which is recessive to the wild-type allele A. Toward positional cloning of the a(t) mutation, a 200-kb genomic BAC/PAC contig of this chromosomal region has been constructed and subsequently sequenced. Full-length ASIP cDNAs obtained by RACE differed in their 5' untranslated regions, whereas they shared a common open reading frame. Comparative sequencing of all ASIP exons and ASIP cDNAs between Mangalitza and Piétrain pigs did not reveal any differences associated with the coat color phenotype. Relative qRT-PCR analyses showed different dorsoventral skin expression intensities of the five ASIP transcripts in black-and-tan Mangalitza. The a(t) mutation is therefore probably a regulatory ASIP mutation that alters its dorsoventral expression pattern.

Sequential Quantitative Trait Locus Mapping in Experimental Crosses

The etiology of complex diseases is heterogeneous. The presence of risk alleles in one or more genetic loci affects the function of a variety of intermediate biological pathways, resulting in the overt expression of disease. Hence, there is an increasing focus on identifying the genetic basis of disease by sytematically studying phenotypic traits pertaining to the underlying biological functions. In this paper we focus on identifying genetic loci linked to quantitative phenotypic traits in experimental crosses. Such genetic mapping methods often use a one stage design by genotyping all the markers of interest on the available subjects. A genome scan based on single locus or multi-locus models is used to identify the putative loci. Since the number of quantitative trait loci (QTLs) is very likely to be small relative to the number of markers genotyped, a one-stage selective genotyping approach is commonly used to reduce the genotyping burden, whereby markers are genotyped solely on individuals with extreme trait values. This approach is powerful in the presence of a single quantitative trait locus (QTL) but may result in substantial loss of information in the presence of multiple QTLs. Here we investigate the efficiency of sequential two stage designs to identify QTLs in experimental populations. Our investigations for backcross and F2 crosses suggest that genotyping all the markers on 60% of the subjects in Stage 1 and genotyping the chromosomes significant at 20% level using additional subjects in Stage 2 and testing using all the subjects provides an efficient approach to identify the QTLs and utilizes only 70% of the genotyping burden relative to a one stage design, regardless of the heritability and genotyping density. Complex traits are a consequence of multiple QTLs conferring main effects as well as epistatic interactions. We propose a two-stage analytic approach where a single-locus genome scan is conducted in Stage 1 to identify promising chromosomes, and interactions are examined using the loci on these chromosomes in Stage 2. We examine settings under which the two-stage analytic approach provides sufficient power to detect the putative QTLs.