A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-Joseph Disease

Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. Previous studies showed that age at onset is negatively correlated with the number of CAG repeat units, but only part of the variation in onset age is explained by CAG repeat length. Ages at onset and CAG repeat lengths of 136 MJD patients from 23 kindreds of Portuguese descent were analyzed, to determine whether familial factors independent of CAG repeat length modulate age at onset of MJD. Correlation among sibs for onset age adjusted for CAG repeat length was .43, which indicates that an environmental or genetic factor common to sibs influences onset age. Positive correlations were also observed for avuncular (r = .22) and first-cousin pairs (r = .28), which supports the hypothesis that a genetic factor is influencing age at onset. Commingling analysis of onset ages adjusted for CAG repeat length identified three distributions in this population of affected individuals. Further studies of a much larger sample are needed to determine whether these distributions represent the influence of a genetic or environmental factor.     

Identification of two glutaminases inRhizobium etli

We present evidence thatRhizobium etli has two glutaminases differentiated by their thermostability and electrophoretic mobility. The thermostable glutaminase (B) is constitutive, in contrast with the thermolabile glutaminase (A), which is positively regulated by glutamine and negatively regulated by ammonium and by the carbon source. In distinction to glutaminase A, glutaminase B plays a minor role in the utilization of glutamine as a carbon source, but it may play a role in maintaining the balance of glutamine and glutamate. By complementation of theRhizobium etli LM16 mutant that lacks glutaminase A, we have cloned the gene that codes for this enzyme.     

Localization of mating behavior of releasedBactrocera dorsalis flies on host fruit in an orchard

Oriental fruit flies,Bactrocera dorsalis, cultured in the laboratory for six generations, were released when 12–14 days old in an orchard of nonfruiting host trees that were furnished with either food and water, nonpunctured host fruit, punctured host fruit, or no resources. Nearly all flies of both sexes, all sexual behavior of males, and all mating pairs were observed on trees with fruit. Moreover, on trees with fruit, nearly all flies of both sexes, nearly all sexual behavior of males, and nearly all mating pairs occurred on the fruit itself rather than on the foliage or branches. In a subsequent test, both sexes were found to be strongly attracted to the odor of host fruit. For a polyphagous species of a tropical tephritid, these findings are the first to show a high level of male aggregation and a high amount of male sexual behavior on the fruit of host trees. Findings are discussed in relation to current knowledge of tephritid mating behavior. An additional quality-control test for laboratory cultured males used in the sterile insect technique of fly management is recommended.     

On the mechanism of UV and γ-ray-induced intrachromosomal recombination in yeast cells synchronized in different stages of the cell cycle

A genetic system selecting for deletion events (DEL recombination) due to intrachromosomal recombination has previously been constructed in the yeastSaccharomyces cerevisiae. Intrachromosomal recombination is inducible by chemical and physical carcinogens. We wanted to understand better the mechanism of induced DEL recombination and to attempt to determine in which phase of the cell cycle DEL recombination is inducible. Yeast cells were arrested at specific phases of the cell cycle, irradiated with UV or γ-rays, and assayed for DEL recombination and interchromosomal recombination. In addition, the contribution of intrachromatid crossing-over to the number of radiation induced DEL recombination events was directly investigated at different phases of the cell cycle. UV irradiation induced DEL recombination preferentially in S phase, while γ-rays induced DEL recombination in every phase of the cell cycle including G1. UV and γ-radiation induced intrachromatid crossing over preferentially in G1, but it accounted at the most for only 14% of the induced DEL recombination events. The possibility is discussed that single-strand annealing or one-sided invasion events, which can occur in G1 and may be induced by a double-strand break intermediate, may be responsible for a large proportion of the induced DEL recombination events.     

Complement-dependent induction of DNA synthesis and cell proliferation in human liver connective tissue cells in vitro

Summary Liver connective tissue cells (LCTC) isolated from patients with fibrotic livers have morphological and biochemical characteristics of myofibroblasts. We have examined the proliferation of LCTC derived from normal livers and from livers with fibrosis of different etiologies, as well as proliferation of skin fibroblasts. We have compared proliferation rates in the presence of fresh human serum and heat-inactivated serum. While skin fibroblast and LCTC from normal liver showed no difference, proliferation of LCTC from fibrotic livers was markedly decreased in the presence of heat-inactivated serum. We demonstrate that the native complement component C1 is a factor involved in the induction of DNA synthesis and proliferation of LCTC isolated from fibrotic livers. We propose that native C1, acting probably in cooperation with other growth factors, is involved in the expansion of connective tissue cells during the development of liver fibrosis.     

Modelling the effect of treatment and behavioral change in HIV transmission dynamics

In this paper we analyze a model for the HIV-infection transmission in a male homosexual population. In the model we consider two types of infected individuals. Those that are infected but do not know their serological status and/or are not under any sort of clinical /therapeutical treatment, and those who are. The two groups of infectives differ in their incubation time, contact rate with susceptible individuals, and probability of disease transmission. The aim of this article is to study the roles played by detection and changes in sexual behavior in the incidence and prevalence of HIV. The analytical results show that there exists a unique endemic equilibrium which is globally asymptotically stable under a range of parameter values whenever a detection /treatment rate and an indirect measure of the level of infection risk are sufficiently large. However, any level of detection/ treatment rate coupled with a decrease of the transmission probability lowers the incidence rate and prevalence level in the population. In general, only significant reductions in the transmission probability (achieved through, for example, the adoption of safe sexual practices) can contain effectively the spread of the disease.     

Genome origins of Triticum cylindricum,Triticum triunciale,and Triticum ventricosum (Poaceae) inferred from variation in restriction patterns of repeated nucleotide sequences: a methodological study

Three methods of phylogenetic inferences on polyploid plants employing variation in restriction sites in repeated nucleotide sequences were compared. Allotetraploid Triticum species of well-established origin were used as a model. Methods based on determination of the proportion of restriction fragments shared between a polyploid and its diploid relatives generated biased results because of uneven numbers of restriction fragments among diploid species and presence of common bands in phylogenetically related diploid species. A method employing restriction fragments unique to a diploid species (marker bands) was not affected by either factor and generated results consistent with cytogenetic inferences. It is shown that the latter method can be used to investigate the origin of a polyploid species even when one of its progenitors is extinct or when the polyploid and its diploid progenitors have diverged.     

Spatial, seasonal and long-term variability of phytoplankton photosynthesis in lakes

A cross-system, worldwide approach has been used to ascertainthe spatial, seasonal and long-term variability of areal phytoplanktonphotosynthesis (PP) in lakes using published data sets. Also,the average fraction of annual PP occurring under ice is calculated.The lakes considered embrace a range of properties (depth, mixing,flushing rate, latitude and trophic status). The overall yearlyPP distribution is skewed to the left, suggesting the dominanceof low PP rates in the data set. When comparing lake types,no differences in average PP have been found among them. Inparticular, there are no clear areal PP differences among lakesof different trophic status on yearly, averaged basis, suggestingthat environmental limitations to PP also exist in lakes ofhigher trophic status. Volumetric-based PP can be better usedto outline PP-based trophic differences, but some degree ofoverlap is also apparent. Across all lake types (except in tropicallakes), the PP seasonal course experiences only one peak inthe year, but its timing is clearly different for each laketype. The seasonal variability of PP is lower in tropical lakes,as previously reported, but the variability of the other laketypes is roughly the same. Therefore, the effects of depth,mixing regime, flushing rate and nutrient status on PP seasonalityare difficult to ascertain since they appear to be counterbalancedby other more pervasive, local effects. Particularly, thereis no increase in temporal variability with the trophic statusof lakes, suggesting that PP seasonal control by physical variablesoverrides that of nutrients. Also, no significant relationshipbetween average PP and latitude has been found. Seasonal variabilityincreases as the yearly PP increases. On a relative basis, thereis a spatial gradient of seasonal variability of PP, which isweaker when seasonal variability of PP is considered in interyearcomparisons. Long-term (i.e. interannual) variability of PPis clearly related to increasing yearly averaged PP. Specifically,in temperate, stratifying lakes the seasonal time course ofPP is clearly different from that of phytoplankton biomass,suggesting an uncoupling of both variables as a result of differingP_max and losses throughout the year. On an average basis, environmentalvariables are poor predictors of areal daily PP, thereby implyingthat the interplay of factors is complex and changing throughoutthe year. PP under ice averages 10% of yearly PP, but its variabilityis high enough to make its measurement advisable.     

Phytochrome-mediated effects on extracellular peroxidase activity, lignin content and bending resistance in etiolated Vicia faba epicotyls

Etiolated Vicia faba seedlings were exposed to continuous red light to investigate whether changes in extracellular peroxidase activity were correlated in time and localization with changes in extension growth and/or lignin content in the subapical region of the epicotyl. Continuous red light: (a) increased extracellular peroxidase activity after a lag of ca 0.5 h, followed by a maximum peak after 2.5 h due to slightly acidic isoforms (pI = 6–6.5, according to isoelectrofocusing gels), a minimum after 4 h and a second maximum after 8 h due to acidic isoforms (pI=4–5), (b) increased lignin content and epicotyl resistance to bending after a lag of ca 4 h, i.e. simultaneously with changes in acidic extracellular peroxidase activity, and (c) reduced extension growth to a stable rate after a lag of ca 1 h, not coinciding with the kinetics of any of the extracellular peroxidase isoforms. These effects of continuous red light were at least partially mediated by phytochrome. Tissue printing and anatomical studies revealed red light effects on extracellular peroxidase activity and lignin content mainly in the outer cortical parenchyma. The results are consistent with the involvement of phyto-chrome-mediated effects on extracellular peroxidases (acidic isoforms) in the transduction chain leading to lignin responses to red light.