Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to characterize the clinical and molecular aspects of the syndrome. Recent advances in cytogenetic technology, particularly FISH, have greatly improved the ability to identify 1p36 deletions and have allowed a clearer definition of the clinical phenotype and molecular characteristics of this syndrome. We have identified 14 patients with chromosome 1p36 deletions and have assessed the frequency of each phenotypic feature and clinical manifestation in the 13 patients with pure 1p36 deletions. The physical extent and parental origin of each deletion were determined by use of FISH probes on cytogenetic preparations and by analysis of polymorphic DNA markers in the patients and their available parents. Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (92%), growth delay (85%), pointed chin (80%), eye/vision problems (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or short fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior (56%), thickened ear helices (53%), and deep-set eyes (50%). FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap.     

Expression of contact, a new zebrafish DVR member, marks mesenchymal cell lineages in the developing pectoral fins and head and is regulated by retinoic acid

Available data indicate that heat shock proteins act as chaperones under non-stress conditions by assisting in: (1) the folding of newly synthesized proteins, (2) the intracellular translocation of proteins, and (3) the function of other proteins. As we gain additional information concerning cellular physiology, we may find that heat shock proteins play a key role in many additional cellular functions. When cells experience thermal or chemical stress, heat shock proteins take on a new role, conserved from bacteria to humans, of protecting cells from the detrimental effects of stress. This latter role takes on added significance for the embryo in which the developmental program must be read linearly, with little opportunity to cycle backward to complete a missed segment of the program. Although circumstantial evidence clearly implicates heat shock proteins in protecting embryos from thermal stress, definitive evidence is still lacking. The challenge for the future is to obtain such definitive data. Ideally, such information will lead to new therapeutic paradigms that will afford protection to the human embryo/fetus exposed to thermal/chemical stress.     

Narp regulates long-term aversive effects of morphine withdrawal.

Although long-lasting effects of drug withdrawal are thought to play a key role in motivating continued drug use, the mechanisms mediating this type of drug-induced plasticity are unclear. Because Narp is an immediate early gene product that is secreted at synaptic sites and binds to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, it has been implicated in mediating enduring forms of synaptic plasticity. In previous studies, the authors found that Narp is selectively induced by morphine withdrawal in the extended amygdala, a group of limbic nuclei that mediate aversive behavioral responses. Accordingly, in this study, the authors evaluate whether long-term aversive effects of morphine withdrawal are altered in Narp knockout (KO) mice. The authors found that acute physical signs of morphine withdrawal are unaffected by Narp deletion. However, Narp KO mice acquire and sustain more aversive responses to the environment conditioned with morphine withdrawal than do wild type (WT) controls. Paradoxically, Narp KO mice undergo accelerated extinction of this heightened aversive response. Taken together, these studies suggest that Narp modulates both acquisition and extinction of aversive responses to morphine withdrawal and, therefore, may regulate plasticity processes underlying drug addiction. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Hexavalent uranium diffusion into soils from concentrated acidic and alkaline solutions

Uranium contamination of soils and sediments often originates from acidic or alkaline waste sources, with diffusion being a major transport mechanism. Measurements of U(VI) diffusion from initially pH 2 and pH 11 solutions into a slightly alkaline Altamont soil and a neutral Oak Ridge soil were obtained through monitoring uptake from boundary reservoirs and from U concentration profiles within soil columns. The soils provided pH buffering, resulting in diffusion at nearly constant pH. Micro X-ray absorption near edge structure spectra confirmed that U remained in U(VI) forms in all soils. Time trends of U(VI) depletion from reservoirs and U(VI) concentration profiles within soil columns yielded Kdvalues consistent with those determined in batch tests at similar concentrations (approximately 1 mM) and much lower than values for sorption at much lower concentrations (nM to microM). These results show that U(VI) transport at high concentrations can be relatively fast at non-neutral pH, with negligible surface diffusion, because of weak sorption.     

Effects of Microbial Transglutaminase on the Wheat Proteins of Bread and Croissant Dough

ABSTRACT: Transglutaminase is a crosslinking enzyme that is finding increasing use in foods, yet the molecular changes responsible for its effects are not fully understood. Proteins were extracted from bread and croissant doughs that had been treated with transglutaminase and compared to those from control doughs by size exclusion high performance liquid chromatography and sodium dodecyl sulfate polyacrylamide gel electrophoresis analysis. Transglutaminase increased the amount of protein extracted in the gliadin fraction in both bread and croissant doughs. In croissant doughs, a corresponding decrease in the protein extracted in the albumin to globulin fraction was seen. In each case, crosslinking of the high molecular weight glutenins was observed. The possible role of each of these changes on the functional properties of baked products is discussed.