A Second Gene for Cerulean Cataracts Maps to the β Crystallin Region on Chromosome 22

Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) are most common. ADCC is a genetically heterogeneous group of disorders, in which at least eight different loci have been identified for nine clinically distinct forms. Among these, Armitageet al.(Nature Genet.9: 37–40, 1995) mapped a gene for cerulean blue cataracts to chromosome 17q24. Bodkeret al.(Am. J. Med. Genet.37: 54–59, 1990) described a large family with cerulean blue cataracts, in which the affected daughter of affected first cousins was presumed to be homozygous for the purported gene. We report linkage in this family to the region on chromosome 22q that includes two β crystallin genes (CRYBB2, CRYBB3) and one pseudogene (CRYBB2P1). The affected female in question is homozygous at all markers.     

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplitude and frequency of eye movements at a given position of gaze. X-linked, autosomal dominant, and autosomal recessive pedigrees have been described, but no mapping studies have been published. We recently described a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point analysis at θ = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor nystagmus to an 18-cM region between D6S271 and D6S455.     

Advantages and limitations in the use of hairy root cultures for the production of tropane alkaloids: Use of anti-auxins in the maintenance of normal root morphology

Summary Brugmansia candida hairy roots, obtained by infection withAgrobacterium rhizogenes LBA 9402, exhibit, after subculturing in liquid media, a tendency towards dedifferentiation. It has been found that the following strategies can be applied to inhibit this dedifferentiation and preserve normal root morphology: (a) lowering both the mineral and sucrose concentration in the media employed so as to diminish osmotic stress (a condition to which these roots appear to be particularly susceptible); (b) employing antiauxins in appropriate concentrations; and (c) maintaining the hairy roots on solid media prior to use in production processes in liquid media. The first strategy suggested does not favor alkaloid productivity, but in this case a two-step method could be attempted: biomass with normal root morphology could be obtained in a first stage using low sucrose concentrations, and in a second stage, sucrose could be increased in order to achieve higher productivity. In all the clones ofB. candida obtained, alkaloid production was biased towards scopolamine.     

Immunomicroscopical localization of human preformed natural antibodies against pig tissues in xenogeneic transplantation

Summary The targets of preformed natural antibodies need to be identified whenever the use of pig organs is considered for human transplantation. In this study we used extracorporeal perfusion of pig organs with human blood, immunocytological techniques and immuno-electron microscopy to identify the targets and the nature of human preformed natural antibodies against pig antigens. The antibodies were found to be mainly of the IgG and IgM type and directed not only against endothelial cells, but also against mesenchymal and epithelial structures. To reproduce an in vivo situation, a Bio-pump was used to xenoperfuse pig kidneys and livers with human fresh oxygenated blood at 37°C, drawn from polycythaemic patients. Biopsies showed a deposition of human IgG and IgM on tubuli and glomeruli of pig kidneys and on endothelial cells of pig livers. Preperfusion of pig liver with human blood for 45 minutes before perfusion of kidneys significantly reduced the deposition of the natural antibodies.     

Relationships between ligninolytic activities of Lentinula spp. and biotransformation of pentachlorophenol in sterile soil

Ligninolytic activities in strains of Lentinula edodes were related to pentachlorophenol biotransformation in sterile soil and activities in L. lepideus. Strains of L. edodes secreting laccase and manganese peroxidase activities also metabolized pentachlorophenol (PCP) significantly ( P < 0.05). Strains of L. lepideus showed neither enzymic activities nor xenobiotic breakdown. Lentinula edodes strains inhibited by PCP at 5 mg 1^-1 in agar, tolerated 200 mg kg^-1 in soil. Strain LE2 metabolized more PCP in nitrogen-sufficient than nitrogen-limited culture: the reverse was observed with Phanerochaete chrysosporium BKM 1767. Relationships between ligninolytic activities and pentachlorophenol breakdown in L. edodes indicated a suitability for soil bioremediation treatments.     

Phytoplankton composition in the Weddell-Scotia Confluence area during austral spring in relation to hydrography

During the EPOS leg 2 cruise of the RV Polarstern, carried out in late austral spring of 1988–1989, the composition of phytoplankton in relation to the distribution of hydrographic parameters was studied in four successive transects carried out along 49°W and 47°W, across the Weddell-Scotia Confluence (WSC) and the marginal ice zone (which overlapped in part). In all transects, a maximum of phytoplankton biomass was found in the WSC, in surface waters stabilized by ice melting. Different phytoplankton assemblages could be distinguished. North of the Scotia Front (the northern limit of the WSC) diatoms with Chaetoceros neglectus, Nitzschia spp. and (Thalassiosira gravida) dominated the phytoplankton community. This assemblage appeared to have seeded a biomass maximum which occupied, during the first transect, an area of the WSC, south of the Scotia Front. The southernmost stations of the first transect and all the stations to the south of the Scotia Front in the other transects were populated by a flagellate assemblage (with a cryptomonad, Pyramimonas spp. and Phaeocystis sp.) and an assemblage of diatoms (Corethron criophilum and Tropidoneis vanheurkii among others) associated to the presence of ice. During the last three transects, the flagellate assemblage formed a bloom in the low salinity surface layers of the WSC zone. The bulk of the biomass maximum was formed by the cryptomonad which reached concentrations up to 4×10⁶ cells l^–1 towards the end of the cruise. Multivariate analysis is used to summarize phytoplankton composition variation. The relationships between the distribution of the different assemblages and the hydrographic conditions indicate that the change of dominance from diatoms to flagellates in the WSC zone was related to the presence of water masses from different origin.Data presented here were collected during the European Polarstern Study (EPOS) sponsored by the European Science Foundation     

Activation of murine macrophages by hydrogen peroxide

Hydrogen peroxide at concentrations from 0.1 to 20 μM enhances phagocytosis and oxidative burst of murine peritoneal macrophages. The activation of these macrophage functions is paralled by prolonged hyperpolarization and a transient increase in cytoplasmic free calcium concentration. All the effects are dose- and time-dependent. The results obtained for H₂O₂ are compared with those for a natural activator, peptide N-formyl-methionyl-leucly-phenylalanine. The data demonstrate the ability of small doses of hydrogen peroxide to stimulate macrophages through the intracellular mechanisms of ion transduction.     

Effects of prolonged cycle ergometer exercise on maximal muscle power and oxygen uptake in humans

The mechanical power (W_tot, W·kg^–1) developed during ten revolutions of all-out periods of cycle ergometer exercise (4–9 s) was measured every 5–6 min in six subjects from rest or from a baseline of constant aerobic exercise [50%–80% of maximal oxygen uptake (VO_2max)] of 20–40 min duration. The oxygen uptake [VO₂ (W·kg^–1, 1 ml O₂ = 20.9 J)] and venous blood lactate concentration ([la]_b, mM) were also measured every 15 s and 2 min, respectively. During the first all-out period, W_tot decreased linearly with the intensity of the priming exercise (W_tot = 11.9–0.25·VO₂). After the first all-out period (i greater than 5–6 min), and if the exercise intensity was less than 60% VO_2max, W_tot, VO₂ and [la]_b remained constant until the end of the exercise. For exercise intensities greater than 60% VO_2max, VO₂ and [la]_b showed continuous upward drifts and W_tot continued decreasing. Under these conditions, the rate of decrease of W_tot was linearly related to the rate of increase of V [(d W_tot/dt) (W·kg^–1·s^–1) = 5.0·10^–5 –0.20·(d VO₂/dt) (W·kg^–1·s^–1)] and this was linearly related to the rate of increase of [la]_b [(d VO₂/dt) (W·kg^–1·s^–1) = 2.310^–4 + 5.910^–5·(d [la]_b/dt) (mM·s^–1)]. These findings would suggest that the decrease of W_tot during the first all-out period was due to the decay of phosphocreatine concentration in the exercising muscles occurring at the onset of exercise and the slow drifts of VO₂ (upwards) and of W_tot (downwards) during intense exercise at constant W_tot could be attributed to the continuous accumulation of lactate in the blood (and in the working muscles).