Vertebrates position unpaired organs of the chest and abdomen asymmetrically along the left-right (LR) body axis. Each structure comes to lie non-randomly with respect to the midline in an overall ...position designated situs solitus, exemplified in humans by placement of the heart, stomach and spleen consistently to the left. Aberrant LR axis development can lead to randomization of individual organ position (situs ambiguus) or to mirror-image reversal of all lateralized structures (situs inversus). Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3). From this chromosomal region we have positionally cloned ZIC3, a gene encoding a putative zinc-finger transcription factor. One frameshift, two missense and two nonsense mutations have been identified in familial and sporadic situs ambiguus. The frameshift allele is also associated with situs inversus among some heterozygous females, suggesting that ZIC3 functions in the earliest stages of LR-axis formation. ZIC3, which has not been previously implicated in vertebrate LR-axis development, is the first gene unequivocally associated with human situs abnormalities.
The 2002 Winter Olympic and Paralympic Games will be hosted by Salt Lake City, Utah, during February-March 2002. Adverse weather during this period may delay sporting events, while snow and ...ice-covered streets and highways may impede access by the athletes and spectators to the venues. While winter snowstorms and other large-scale weather systems typically have widespread impacts throughout northern Utah, hazardous winter weather is often related to local terrain features (the Wasatch Mountains and Great Salt Lake are the most prominent ones). Examples of such hazardous weather include lake-effect snowstorms, ice fog, gap winds, downslope windstorms, and low visibility over mountain passes.
A weather support system has been developed to provide weather information to the athletes, games officials, spectators, and the interested public around the world. This system is managed by the Salt Lake Olympic Committee and relies upon meteorologists from the public, private, and academic sectors of the atmospheric science community. Weather forecasting duties will be led by National Weather Service forecasters and a team of private, weather forecasters organized by KSL, the Salt Lake City NBC television affiliate. Other government agencies, commercial firms, and the University of Utah are providing specialized forecasts and support services for the Olympics. The weather support system developed for the 2002 Winter Olympics is expected to provide long-term benefits to the public through improved understanding,monitoring, and prediction of winter weather in the Intermountain West.
Visceral left-right asymmetry occurs in all vertebrates, but the inversion of embryo turning (inv) mouse, which resulted following a random transgene insertion, is the only model in which these ...asymmetries are consistently reversed. We report positional cloning of the gene underlying this recessive phenotype. Although transgene insertion was accompanied by neighbouring deletion and duplication events, our YAC phenotype rescue studies indicate that the mutant phenotype results from the deletion. After extensively characterizing the 47-kb deleted region and flanking sequences from the wild-type mouse genome, we found evidence for only one gene sequence in the deleted region. We determined the full-length 5.5-kb cDNA sequence and identified 16 exons, of which exons 3-11 were eliminated by the deletion, causing a frameshift. The novel gene specifies a 1062-aa product with tandem ankyrin-like repeat sequences. Characterization of complementing and non-complementing YAC transgenic families revealed that correction of the inv mutant phenotype was concordant with integration and intact expression of this novel gene, which we have named inversin (Invs).
We report a three-generation family manifesting a previously undescribed X-linked mental retardation syndrome. Four of the six moderately retarded males have had episodes of manic-depressive ...psychosis. The phenotype also includes pyramidal signs, Parkinsonian features, and macroorchidism, but there are no characteristic dysmorphic facial features. Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci. Linkage analyses were undertaken, and a maximal LOD score of 3.311 at theta = .0 was observed with the microsatellite marker DXS1123 in Xq28. A recombination was detected in one of the affected males with DXS1691 (Xq28), which gives the proximal boundary of the localization. No distal recombination has been detected at any of the loci tested.
Abstract
High- and low-resolution sea surface temperature (SST) analysis products are used to initialize the Weather Research and Forecasting (WRF) Model for May 2004 for short-term forecasts over ...Florida and surrounding waters. Initial and boundary conditions for the simulations were provided by a combination of observations, large-scale model output, and analysis products. The impact of using a 1-km Moderate Resolution Imaging Spectroradiometer (MODIS) SST composite on subsequent evolution of the marine atmospheric boundary layer (MABL) is assessed through simulation comparisons and limited validation. Model results are presented for individual simulations, as well as for aggregates of easterly- and westerly-dominated low-level flows. The simulation comparisons show that the use of MODIS SST composites results in enhanced convergence zones, earlier and more intense horizontal convective rolls, and an increase in precipitation as well as a change in precipitation location. Validation of 10-m winds with buoys shows a slight improvement in wind speed. The most significant results of this study are that 1) vertical wind stress divergence and pressure gradient accelerations across the Florida Current region vary in importance as a function of flow direction and stability and 2) the warmer Florida Current in the MODIS product transports heat vertically and downwind of this heat source, modifying the thermal structure and the MABL wind field primarily through pressure gradient adjustments.
A mother and daughter with Pallister-Hall syndrome are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of this condition. The mother ...survived childhood and became pregnant without exogenous endocrine supplements, demonstrating that the gene manifests variable expressivity.
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