Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

Summary Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member (s) of the family. We have determined that two individuals with a progressive deforming variety of OI, OI type III, have the same new dominant mutation [1(I)gly154 to arg] and that two unrelated infants with perinatal lethal OI, OI type II, share a second new dominant muation [1(I)gly1003 to ser]. These mutations occurred at CpG dinucleotides, in a manner consistent with deamination of a methylated cytosine residue, and raise the possibility that CpG dinucleotides are common sites of recurrent mutations in collagen genes. Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen.     

Protein phosphorylation in the facultative chemolithotrophThiobacillus novellus

The phosphorylation of at least five proteins with M_r of about 160,000; 93,000; 85,000; 45,000; and 29,000 respectively was demonstrated in crude extracts from the facultative chemolithotrophThiobacillus novellus. The incorporation of [-³²P]phosphate from ATP into these proteins was dependent on the presence of magnesium ion. The phosphorylation reactions were found to be reversible and required 12.5 mM NaF for maximal activity, indicating the action of phosphatases. In addition, 3,5-cAMP had little effect on protein kinase activity, whereas Ca²⁺ alone was weakly stimulatory. This activation was enhanced by the addition of 3,5-cAMP. Ca²⁺ with calmodulin had a strong stimulatory effect on phosphate incorporation into the proteins. A highly purified preparation containing only the 160, 93, and 85 kDa proteins phosphorylated histone, whereas the uptake of³²P by the three proteins was inhibited. Rabbit muscle phosphorylase b prevented incorporation of radiolabel only into the 160 and 93 kDa proteins.     

Developmental and hormonal regulation of carbamoyl-phosphate synthase gene expression in rat liver: evidence for control mechanisms at different levels in the perinatal period

Carbamoyl-phosphate synthase gene expression is found to be primarily regulated by conditions that enhance hepatic glucocorticosteroid levels (hormone injections) and cyclic AMP levels (induction of diabetes). After birth, changes in the level of carbamoyl-phosphate synthase protein follow changes in the level of carbamoylphosphate synthase mRNA, suggesting a pretranslational control mechanism. In fetal rats, carbamoyl-phosphate synthase gene expression is regulated by the same factors as in adults. However, both the level to which carbamoyl-phosphate synthase mRNA can accumulate and the extent to which mRNA can be translated appear to be limited, indicating control mechanisms at the pretranslational and translational level. Finally, in the immediate postnatal period, a transient but pronounced decrease in the rate of degradation of carbamoyl-phosphate synthase protein may play a role in the accumulation of the enzyme.     

Estimation of the stability of globular proteins

The interpretation of ΔG (the free energy change for the reaction, globular conformation ? randomly coiled conformation, in the absence of denaturant), in terms of the free energies of transfer of various parts of the protein molecule from water to denaturant solution, is unsatisfactory because the latter are assumed to be identical to the transfer-free energies of similar groups attached to smaller model compounds. We have made empirical adjustments to transfer-free energy theory that make possible linear extrapolation of the free energy of denaturation of a protein from transition region to zero denaturant concentration. The modified theory, used to analyze the denaturation of proteins by guanidine hydrochloride and urea, allowed us to calculate reasonable values for Δα, the average change in accessibility to solvent of the component groups of protein.     

Effects of superabundant food on breeding success and behavior of the red-winged blackbird

Summary The effects of food on breeding success and behavior of the red-winged blackbird (Icteridae: Agelaius phoeniceus) were investigated during 3 successive breeding seasons. In the second season, a 4-week pulse of abundant food in the form of a periodical cicada emergence (Homoptera: Cicadidae: Magicicada spp.) occurred in the forest adjacent to the marsh where the birds were breeding.During the cicada period, the bird population showed: 1) an increase in foraging trips to the forest and a decrease in trips per h, 2) increased biomass of nestlings, 3) increased nestling survival caused by decreased starvation, 4) increased fledging success, and 5) bimodal weight distributions of older nestlings (reflective of the sexual dimorphism in this species). These data suggest the temporary removal of food limitations on the breeding population when the pulse of food was available.     

The Pragmatics of Proverb Performances in New Mexican Spanish

Performances of proverbs by Mexicanos in northern New Mexico are characterized by seven features in addition to the proverb text. These are examined with respect for the role they play in connecting basic cultural and linguistic patterns with the minute details of an ongoing social interaction. The processes of presupposition and contextualization are identified as crucial determinants of the way each feature will be realized in a given performance.     

Fluorescence methods for localizing proteinases and proteinase inhibitors in skeletal muscle

Summary Proteinases and proteinase inhibitors have become suspect in a wide variety of muscle wasting conditions that might be treatable if knowledge of the cellular locale and function of these molecules were known. Fluorescent probes have been useful in the localization of proteinases in muscle samples from human and animal specimens. These include the histochemical localization of proteinases based on the specific fluorescence of hydrolysis product derivatives, but this approach has been limited to the lysosomal proteinases because of the acidic requirements of the trapping reaction of the primary reaction product. Immunohistochemical techniques do not have the same restrictions and a number of lysosomal and nonlysosomal proteinases have been identified in muscle by this means. Unfortunately, they do not yield any information as to the activity of the enzymes. This is an important consideration since the extracellular environment contains a number of proteinase inhibitors, some of which may be internalized by the cell.     

Quantity and quality of seston in an impounded and a free-flowing river in Virginia,U.S.A.

Seston in the impounded North Anna River (NAR) was analyzed and compared to that in the free-flowing South Anna River (SAR) in Virginia, U.S.A. A wet filtration technique was used to separate seston into five size classes. The overall quantity of organic seston was much lower in the NAR than in the SAR. The seston in the NAR was composed of more living organisms, in particular zooplankters in the medium large (234–864 µm) and small (105–234 µm) size classes and diatoms and other algae in the fine (43–105 µm) and very fine (25–43 µm) size classes. The percentage of zooplankton declined sharply before reaching the downstream study site (32 km). The seston in the NAR tended to consist of slightly larger particles, but 80–85% of the seston in both rivers was in the ultrafine (0.45–25 µm) size class, which was almost entirely composed of detritus. One indication of seston food quality, the organic/inorganic ratio, was considerably higher for the medium large and small size classes in the NAR immediately below the dam and for the fine and very fine size classes farther downstream. Another indication of food quality, the usable caloric content, showed that the seston in the NAR contained considerably less total assimilable energy as far as 32 km downstream from the dam, but that the medium large and small size classes were rich in assimilable energy immediately below the dam because of zooplankton released from the reservoir. Thus, the overall quantity and quality of seston was lower in the NAR, but the quality of the seston, for at least a short distance below the dam, was higher in a well-defined size range that can be effectively utilized by certain filter feeders.     

Distribution and abundance of fishes in the San Francisco Bay estuary between 1980 and 1982

In 1980 a long-term study of the fishery resources of the San Francisco Bay estuary was initiated in an effort to delineate the importance of freshwater inflow to fish and invertebrate abundance and distribution in the bay. An analysis of the trawl data collected between January 1980 and December 1982 illustrates the influence of the timing and magnitude of freshwater inflows on fish fistribution and abundance in this estuary from the perspective of monthly, seasonal and annual time scales. Normally found in the delta, Suisun Bay and San Pablo Bay during periods of increased salinity, pelagic species moved downstream after the two peak flows studied, while demersal species usually found in Central San Francisco Bay moved upstream. Such upstream movements may be due in part to transport by strong density-driven currents.Timing and magnitude of monthly catches of some species varied on a seasonal cycle coincident with variations of freshwater inflow. Most species, especially the marine species, showed no consistent cycle of monthly catches. In the wet years of 1980 and 1982 the distributions of freshwater, estuarine and anadromous species were extended downstream into San Pablo, Central and South San Francisco Bays and some marine species, including the flatfish, were more abundant in the upstream areas. In the dry year of 1981 when bay salinities were higher, few marine species extended their distributions upstream into San Pablo and Suisun Bays. Jacksmelt was the only fish of the 15 most abundant species with its peak abundance in 1981. Most marine species were more abundant in the San Francisco Bay estuary in the wet years.