Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

Summary A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost.     

Lateral bias in feeding and brachiation inHylobates

Lateralized hand use in gibbons was assessed for both food reaching and leading limb in brachiation. Sex and age effects were found in hand preference for food reaching. Adult females were all very strongly right hand preferent, whereas adult males had no across group consistent preference. Within the female group there was a strong correlation between age and strength of right handedness. When compared in terms of absolute strength of hand preference, females were found to be more strongly lateralized than males. Leading limb preference in brachiation was scored into vocal and non-vocal categories. Three subjects had a shift in preferred leading limb from the non-vocal brachiation condition to the vocal brachiation condition. This shift may be influenced by the arousal effects of species typical vocalization. The results of this study underline the importance of consideration of such factors as sex and age when interpreting behavioral lateralization data. The exploration of laterality in many different response measures is important to the achievement of a complete understanding of behavioral lateralization in primates.     

Kinetics of ammonia oxidation by a marine nitrifying bacterium: Methane as a substrate analogue

In pure culture, the marine ammonia oxidizer,Nitrosococcus oceanus, exhibits normal Michaelis Menten kinetics with respect to its primary substrate, ammonia.N. oceanus also exhibits a kinetic response to methane. In the absence of methane, oxidation of ammonia is first order with respect to ammonia concentration under atmospheric oxygen concentrations at seawater pH. In the presence of methane, ammonia oxidation is inhibited, and the amount of inhibition is related to the relative concentrations of methane and ammonia. Using semicontinuous batch cultures as a source of organisms for short-term kinetic experiments, I investigated the relationship between ammonia and methane oxidation inN. oceanus by varying the absolute and relative concentration of both substrates. Methane appeared to act as a substrate analogue, and its effect on ammonia oxidation was modeled as a permutation of competitive inhibition involving a cooperative enzyme system. Methane was oxidized byN. oceanus, even in the absence of measurable ammonia oxidation, but the process was inhibited at increasing methane concentrations. Of the two product pools analyzed, an average of 37% of methane oxidized was detected in particulate (cell) material and the remainder was detected in¹⁴CO₂. The contribution of methane to total carbon assimilation varied with the ratio [CH₄]/[NH₃] and may be significant under substrate concentrations typical of a dilute aquatic environment.     

Reductive biotransformations of organic compounds by cells or enzymes of yeast.

Saccharomyces cerevisiae catalyses the asymmetric reductive biotransformation of a variety of compounds containing a carbonyl group or carbon-carbon double bond. Oxidoreductases participating in these reactions which have commercial potential in biotransformation processes are likely to have relatively broad substrate specificity. Important carbonyl reductases falling into this category include YADH- and yeast NADP-dependent beta-ketoester reductases. The enoyl reductase component of the FAS complex may have a role in asymmetric yeast reduction of carbon-carbon double bonds of unnatural substrates. Other nicotinamide-requiring oxidoreductases of yeast are also surveyed to rationalize observed biotransformations of whole yeast cells in terms of specific enzymes. Genetic and protein engineering may enable enzymes to be tailored to accept new substrates. A greater understanding of the enzymes and reactions involved will facilitate further optimization and exploitation of these catalytic systems in industrial processes.     

Oxygen consumption and body temperature in yellow-bellied marmot populations from montane-mesic and lowland-xeric environments

Summary Yellow-bellied marmots characteristically live in montane-mesic environments, but in several areas in western North America, this species extended its range into lowland-xeric habitats. Body mass was significantly smaller in the lowland-xeric population from eastern Washington at 393 m than in the montane-mesic population from western Colorado at 2900 m. Oxygen consumption of marmots from montane-mesic and lowland-xeric environments was signiflcantly affected by ambient temperature (T_A) water regimen, population, and a population x water regimen x temperature interaction. Lowland-xeric animals had a higher metabolic rate at low T_As, but a lower metabolic rate at higher T_As than the montane-mesic aminals. Oxygen consumption was lower on a restricted-water regimen than on ad libitum water in both populations. Coefficients relating oxygen consumption to body mass were affected by T_A, water regimen, and population. These intraspecific coefficients are larger than the interspecific coefficients for all mammals. Body temperature (T_B) was affected significantly by T_A, water regimen, and population. T_A body mass, and a population x water regimen interaction significantly affected conductance. Conductance generally was higher in the lowland-xeric than in the montane-mesic marmots. Both populations increased conductance at high T_A, but the lowland-xeric population dissipated a much higher proportion of the heat by evaporative water loss (EWL) than did the montane-mesic population. Metabolic water production exceeded or equaled EWL at 5–20°C. Smaller body size, reduced metabolism at high T_A, and increased EWL at high T_A characterized the lowland-xeric population.Metabolic rates of yellow-bellied marmots were higher than predicted from body size during the reproductive season but decreased to 67% of that predicted from the Kleiber curve by late summer. Marmots minimize thermoregulatory costs by concentrating activity at times when the microclimate is favorable, by tolerating hyperthermia at high T_A in the field, and by having a conductance lower than that predicted from body size.Abbreviations DHC dry-heat conductance - EHL evaporative heat loss - EWL evaporative water loss - HP heat produced - T _A ambient temperature - T _n body temperature - M body mass     

Purification and some properties of the mannanases fromThielavia terrestris

Summary Thielavia terrestris NRRL 8126 cell free supernatants contained mannanase and -mannosidase when cultured on a complex media containing locust bean gum. Using acetone precipitation, SP-Sephadex C50 ion exchange chromatography and preparative gel electrophoresis, the crude enzyme was resolved into one -d-mannosidase and four -d-mannanase components. -d-mannosidase had a specific activity of 0.02 (U/mg) onp-nitrophenyl--d-mannopyranoside substrate. Mannanase components M1, M2, M3 and M4 had specific activities of 28.2, 38.7, 52.8 and 4.17 (U/mg) respectively on purified locust bean galactomannan substrate. pH optima for the enzymes were in the range 4.5–5.5. Mannanase component M4 manifested the greatest thermostability, retaining full activity for 3 h at 60°C. Molecular weights determined by SDS-PAGE were 72 000 for -mannosidase and 52 000, 30 000, 55 000 and 89 000 for M1, M2, M3 and M4 respectively. Carbohydrate contents of the enzymes ranged from 6–36%. Preliminary studies indicate that enzyme components hydrolyse the mannan substrate in a synergistic manner.     

Dynamics of the ventilatory response to central hypoxia in cats

The dynamics of the effect of central hypoxia on ventilation were investigated by the technique of artificial perfusion of the brain stem in alpha-chloralose-urethan-anesthetized cats. A two-channel roller pump and a four-way valve allowed switching the gas exchanger into and out of the extracorporeal circuit which controlled the brain stem perfusion. When isocapnic hypoxia (arterial PO2 range 18-59 Torr) was limited to the brain stem, a decline in ventilation was consistently found. In 12 cats 47 steps into and 48 steps out of central hypoxia were made. The ventilatory response was fitted using least squares with a model that consisted of a latency followed by a single-exponential function. The latencies for the steps into and out of hypoxia were not significantly different (P = 0.14) and were 32.3 +/- 4.0 and 25.1 +/- 3.6 (SE) s, respectively. The time constant for the steps into hypoxia (149.7 +/- 8.5 s) was significantly longer (P = 0.0002) than for the steps out of hypoxia (105.5 +/- 10.1 s). The time constants for the increase and decrease in ventilation after step changes in the central arterial PCO2 found in a previous study (J. Appl. Physiol. 66: 2168-2172, 1989) were not significantly different (P greater than 0.2) from the corresponding time constants in this study (for 7 cats common to both studies). Theories of the mechanisms behind hypoxic ventilatory decline need to account for the long latency, the similarity between the time constants for the ventilatory response to O2 and CO2, and the differences between the time constants for increasing and decreasing ventilation.     

Nitrification and denitrification: Probing the nitrogen cycle in aquatic environments

Methods designed to detect microorganisms involved in the biogeochemistry of nitrogen in the marine environment are rapidly being developed and deployed in ecological investigations. Probes based on phylogenetic sequences (usually rRNA) and those based on the sequences of functional genes or proteins have both been demonstrated in the nitrogen cycle. The most progress has been made for ammonia oxidizers; several sets of PCR primers have been described and their specificity may be optimized to allow detection of genetically and ecologically meaningful groups. For denitrifying bacteria, functional probes based on nitrite reductase show most promise. These approaches should complement the more familiar, but no less sophisticated, methods that focus on quantification of in situ transformation rates. Both approaches in combination will be useful in understanding regulation and environmental control of biogeochemical processes. Correspondence to: B.B. Ward