Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. Here, we report the identification of a second large VCPDM family of Bulgarian descent and fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same nonconservative S85C missense mutation affecting an interspecies conserved residue in the MATR3 gene in both families. MATR3 is expressed in skeletal muscle and encodes matrin 3, a component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus. Different disease related haplotype signatures in the two families provided evidence that two independent mutational events at the same position in MATR3 cause VCPDM. Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome.

Iowa Rail Route Alternatives Analysis, June 1998

The development of new rail systems in the first part of the 21st century is the result of a wide range of trends that are making it increasingly difficult to maintain regional mobility using the two dominant intercity travel modes, auto and air. These trends include the changing character of the economic structure of industry. The character of the North American industrial structure is moving rapidly from a manufacturing base to a service based economy. This is increasing the need for business travel while the increase in disposable income due to higher salaries has promoted increased social and tourist travel. Another trend is the change in the regulatory environment. The trend towards deregulation has dramatically reduced the willingness of the airlines to operate from smaller airports and the level of service has fallen due to the creation of hub and spoke systems. While new air technology such as regional jets may mitigate this trend to some degree in medium-size airports, smaller airports will continue to lose out. Finally, increasing environmental concerns have reduced the ability of the automobile to meet intercity travel needs because of increased suburban congestion and limited highway capacity in big cities. Against this background the rail mode offers new options due to first, the existing rail rights-of-way offering direct access into major cities that, in most cases, have significant capacity available and, second, a revolution in vehicle technology that makes new rail rolling stock faster and less expensive to purchase and operate. This study is designed to evaluate the potential for rail service making an important contribution to maintaining regional mobility over the next 30 to 50 years in Iowa. The study evaluates the potential for rail service on three key routes across Iowa and assesses the impact of new train technology in reducing costs and improving rail service. The study also considers the potential for developing the system on an incremental basis. The service analysis and recommendations do not involve current Amtrak intercity service. That service is presumed to continue on its current route and schedule. The study builds from data and analyses that have been generated for the Midwest Rail Initiative (MWRI) Study. For example, the zone system and operating and capital unit cost assumptions are derived from the MWRI study. The MWRI represents a cooperative effort between nine Midwest states, Amtrak and the Federal Railroad Administration (FRA) contracting with Transportation Economics & Management Systems, Inc. to evaluate the potential for a regional rail system. The 1 The map represents the system including the decision on the Iowa route derived from the current study. Iowa Rail Route Alternatives Analysis TEMS 1-2 system is to offer modern, frequent, higher speed train service to the region, with Chicago as the connecting hub. Exhibit 1-1 illustrates the size of the system, and how the Iowa route fits in to the whole.

Inference of chromosomal inversion dynamics from Pool-Seq data in natural and laboratory populations of Drosophila melanogaster.

Sequencing of pools of individuals (Pool-Seq) represents a reliable and cost-effective approach for estimating genome-wide SNP and transposable element insertion frequencies. However, Pool-Seq does not provide direct information on haplotypes so that, for example, obtaining inversion frequencies has not been possible until now. Here, we have developed a new set of diagnostic marker SNPs for seven cosmopolitan inversions in Drosophila melanogaster that can be used to infer inversion frequencies from Pool-Seq data. We applied our novel marker set to Pool-Seq data from an experimental evolution study and from North American and Australian latitudinal clines. In the experimental evolution data, we find evidence that positive selection has driven the frequencies of In(3R)C and In(3R)Mo to increase over time. In the clinal data, we confirm the existence of frequency clines for In(2L)t, In(3L)P and In(3R)Payne in both North America and Australia and detect a previously unknown latitudinal cline for In(3R)Mo in North America. The inversion markers developed here provide a versatile and robust tool for characterizing inversion frequencies and their dynamics in Pool-Seq data from diverse D. melanogaster populations.

Representational pseudoneglect and reference points both influence geographic location estimates

Our mental representation of the world is far from objective. For example, western Canadians estimate the locations of North American cities to be too far to the west. This bias could be due to a reference point effect, in which people estimate more space between places close to them than far from them, or to representational pseudoneglect, in which neurologically intact individuals favor the left side of space when asked to image a scene.We tested whether either or both of these biases influence the geographic world representations of neurologically intact young adults from Edmonton and Ottawa, which are in western and eastern Canada, respectively. Individuals were asked to locate NorthAmerican cities on a two-dimensional grid. Both groups revealed effects of representational pseudoneglect in this novel paradigm, but they also each exhibited reference point effects. These results inform theories in both cognitive psychology and neuroscience.

Contribution of microbial and invertebrate communities to leaf litter colonization in a Mediterranean stream

Leaf litter inputs and retention play an important role in ecosystem functioning in forested streams. We examined colonization of leaves by microbes (bacteria, fungi, and protozoa) and fauna in Fuirosos, an intermittent forested Mediterranean stream. Black poplar (Populus nigra) and plane (Platanus acerifolia) leaf packs were placed in the stream for 4 mo. We measured the biomasses and calculated the densities of bacteria, fungi, protozoa, meiofauna, and macroinvertebrates to determine their dynamics and potential interactions throughout the colonization process. Colonization was strongly correlated with hydrological variability (defined mainly by water temperature and discharge). The 1st week of colonization was characterized by hydrological stability and warm water temperatures, and allocation of C from microbial to invertebrate compartments on the leaf packs was rapid. Clumps of fine particulate organic matter (FPOM) were retained by the leaf packs, and enhanced rapid colonization by microfauna and meiofaunal collector-gatherers (ostracods and copepods). After 2 wk, an autumnal flood caused a 20-fold increase in water flow. Higher discharge and lower water temperature caused FPOM-related fauna to drift away from the packs and modified the subsequent colonization sequence. Fungi showed the highest biomass, with similar values to those recorded at the beginning of the experiment. After 70 d of postflood colonization, fungi decreased to nearly 40% of the total C in the leaf packs, whereas invertebrates became more abundant and accounted for 60% of the C. Natural flood occurrence in Mediterranean streams could be a key factor in the colonization and processing of organic matter.

Effects of riparian vegetation removal on nutrient retention in a Mediterranean stream

We examined the effects of riparian vegetation removal on algal dynamics and stream nutrient retention efficiency by comparing NH4-N and PO4-P uptake lengths from a logged and an unlogged reach in Riera Major, a forested Mediterranean stream in northeastern Spain. From June to September 1995, we executed 6 short-term additions of N (as NH4Cl) and P (as Na2HPO4) in a 200-m section to measure nutrient uptake lengths. The study site included 2 clearly differentiated reaches in terms of canopy cover by riparian trees: the first 100 m were completely logged (i.e., the logged reach) and the remaining 100 m were left intact (i.e., the shaded reach). Trees were removed from the banks of the logged reach in the winter previous to our sampling. In the shaded reach, riparian vegetation was dominated by alders (Alnus glutinosa). The study was conducted during summer and fall months when differences in light availability between the 2 reaches were greatest because of forest canopy conditions. Algal biomass and % of stream surface covered by algae were higher in the logged than in the shaded reach, indicating that logging had a stimulatory effect on algae in the stream. Overall, nutrient retention efficiency was higher (i.e., shorter uptake lengths) in the logged than in the shaded reach, especially for PO4-P. Despite a greater increase in PO4-P retention efficiency relative to that of NH4-N following logging, retention efficiency for NH4-N was higher than for PO4-P in both study reaches. The PO4-P mass-transfer coefficient was correlated with primary production in both study reaches, indicating that algal activity plays an important role in controlling PO4-P dynamics in this stream. In contrast, the NH4-N mass-transfer coefficient showed a positive relation-ship only with % of algal coverage in the logged reach, and was not correlated with any algal-related parameter in the shaded reach. The lack of correlation with algal production suggests that mechanisms other than algal activity (i.e., microbial heterotrophic processes or abiotic mechanisms) may also influence NH4-N retention in this stream. Overall, this study shows that logging disturbances in small shaded streams may alter in-stream ecological features that lead to changes in stream nutrient retention efficiency. Moreover, it emphasizes that alteration of the tight linkage between the stream channel and the adjacent riparian zone may directly and indirectly impact biogeochemical processes with implications for stream ecosystem functioning.

A comparison of rapid bioassessment protocols used in 2 regions with Mediterranean climates, the Iberian Peninsula and South Africa

Abstract. The ability of 2 Rapid Bioassessment Protocols (RBPs) to assess stream water quality was compared in 2 Mediterranean-climate regions. The most commonly used RBPs in South Africa (SAprotocol) and the Iberian Peninsula (IB-protocol) are both multihabitat, field-based methods that use macroinvertebrates. Both methods use preassigned sensitivity weightings to calculate metrics and biotic indices. The SA- and IB-protocols differ with respect to sampling equipment (mesh size: 1000 lm vs 250 300 lm, respectively), segregation of habitats (substrate vs flow-type), and sampling and sorting procedures (variable time and intensity). Sampling was undertaken at 6 sites in South Africa and 5 sites in the Iberian Peninsula. Forty-four and 51 macroinvertebrate families were recorded in South Africa and the Iberian Peninsula, respectively; 77.3% of South African families and 74.5% of Iberian Peninsula families were found using both protocols. Estimates of community similarity compared between the 2 protocols were .60% similar among sites in South Africa and .54% similar among sites in the Iberian Peninsula (BrayCurtis similarity), and no significant differences were found between protocols (Multiresponse Permutation Procedure). Ordination based on Non-metric Multidimensional Scaling grouped macroinvertebrate samples on the basis of site rather than protocol. Biotic indices generated with the 2 protocols at each site did not differ. Thus, both RBPs produced equivalent results, and both were able to distinguish between biotic communities (mountain streams vs foothills) and detect water-quality impairment, regardless of differences in sampling equipment, segregation of habitats, and sampling and sorting procedures. Our results indicate that sampling a single habitat may be sufficient for assessing water quality, but a multihabitat approach to sampling is recommended where intrinsic variability of macroinvertebrate assemblages is high (e.g., in undisturbed sites in regions with Mediterranean climates). The RBP of choice should depend on whether the objective is routine biomonitoring of water quality or autecological or faunistic studies.

Benthic macroinvertebrates assemblages and macrohabitat connectivity in Mediterranean-climate streams of northern California

Abstract. Drought leads to a loss of longitudinal and lateral hydrologic connectivity, which causes direct or indirect changes in stream ecosystem properties. Changes in macrohabitat availability from a rifflepool sequence to isolated pools are among the most conspicuous consequences of connectivity loss. Macroinvertebrate assemblages were compared among 3 distinct stream macrohabitats (riffles [R], pools connected to riffles [Pc], disconnected pools [Pd]) of 19 Mediterranean-climate sites in northern California to examine the influence of loss of habitat resulting from drought disturbance. At the time of sampling, 10 sites were perennial and included R and Pc macrohabitats, whereas 9 sites were intermittent and included only Pd macrohabitats. Taxa richness was more variable in Pd, and taxa richness was significantly lower in Pd than in Pc but not R. These results suggested a decline in richness between Pc and Pd that might be associated with loss of connectivity. Lower Ephemeroptera, Plecoptera, and Trichoptera (EPT) richness relative to Odonata, Coleoptera, and Heteroptera (OCH) richness was observed for Pd than R and Pc macrohabitats. Family composition was more similar between R and Pc than between R or Pc and Pd macrohabitats. This similarity may be associated with greater connectivity between R and Pc macrohabitats. Correspondence analysis indicated that macroinvertebrate composition changed along a gradient from R to Pc and Pd that was related to a perennialintermittent gradient across sites. High variability among macroinvertebrate assemblages in Pd could have been related to variability in the duration of intermittency. In cluster analysis, macroinvertebrate assemblages were grouped by macrohabitat first and then by site, suggesting that the macrohabitat filter had a greater influence on macroinvertebrate assemblages than did local site characteristics. Few taxa were found exclusively in Pc, and this macrohabitat shared numerous taxa with R and Pd, indicating that Pc may act as a bridge between R and Pd during drought. Drought is regarded as a ramp disturbance, but our results suggest that the response of macroinvertebrate assemblages to the loss of hydrological connectivity among macrohabitats is gradual, at least in Mediterranean-climate streams where drying is gradual. However, the changes may be more dramatic in arid and semiarid streams or in Mediterranean-climate streams if drying is rapid.

Fiesta peninsular y holiday estadounidense: dos visiones

Este artículo parte de la hipótesis de que la palabra fiesta posee un peso semántico mayor que su correspondiente holiday norteamericana y que esta desigualdad se puede corroborar en el ámbito de la antropología, la literatura, la lexicografía y la semántica lingüística. La falta de equivalencia semántica de ambos vocablos puede ocasionar dificultades en encuentros interculturales, ya que la traducción literal no consigue transmitir las diversas connotaciones semánticas de la fiesta. Convendría, pues, evitar tanto que el estudiante hispanohablante vuelque en el sustantivo estadounidense sus nociones culturales festivas, como que el estudiante norteamericano de español reduzca el término lingüístico al colorismo de una celebración lúdica o incluso taurina.