Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations

Codon 257 of the p53 gene is an extremely rare target for somatic mutations (accounting for only two of 1600 published mutations). We report here two constitutional mutations both affecting the second nucleotide of codon 257. A thymine to adenine transversion resulting in an amino acid change from leucine to glutamine was found in one proband who developed multiple independent malignant tumors (osteosarcoma, phyllodes tumor, soft-tissue sarcoma). Her mother died of early-onset breast cancer. In the other case, a deletion resulting in a frameshift in the C-terminal coding region of p53 was found in a woman who was diagnosed with breast cancer at age 34. This woman belongs to a family with features of Li-Fraumeni syndrome. In both cases, the p53 mutations identified in the proband was found in other members of the family. Codon 257, even if rarely mutated in somatic cells, may thus be an important target for germ-line mutations.     

Apparent thermal resistance of Bacillus stearothermophilus spores recovered under anaerobic conditions

The effect of recovering Bacillus stearothermophilus spores under anaerobic conditions on their apparent thermal resistance was studied. Spores were suspended in bidistilled water as a reference medium, heated at 115, 117, 119, 121, 123 and 125°C and recovered under aerobic and anaerobic conditions. D values (decimal reduction time) obtained following recovery under anaerobic conditions were lower than those obtained under aerobic conditions. Reductions of between 31 and 48% were found for all the temperatures studied. When spores were suspended in mushroom extract and recovered under anaerobic conditions the apparent heat resistance was much lower than that obtained under aerobic conditions (D _121°C was 4.3 min and 1.7 min, under aerobic and anaerobic conditions, respectively). Heating the spores in mushroom extract and recovering the spores under anaerobic conditions produced an additive effect, decreasing the apparent heat resistance of the B. stearothermophilus spores.     

Topographical distribution of NADPH-diaphorase activity in the central nervous system of the frog, Rana perezi

The distribution of NADPH-diaphorase (ND) activity was histochemically investigated in the brain of the frog Rana perezi. This technique provides a highly selective labeling of neurons and tracts. In the telencephalon, labeled cells are present in the olfactory bulb, pallial regions, septal area, nucleus of the diagonal band, striatum, and amygdala. Positive neurons surround the preoptic and infundibular recesses of the third ventricle. The magnocellular and suprachiasmatic hypothalamic nuclei contain stained cells. Numerous neurons are present in the anterior, lateral anterior, central, and lateral posteroventral thalamic nuclei. Positive terminal fields are organized in the same thalamic areas but most conspicuously in the visual recipient plexus of Bellonci, corpus geniculatum of the thalamus, and the superficial ventral thalamic nucleus. Labeled fibers and cell groups are observed in the pretectal area, the mesencephalic optic tectum, and the torus semicircularis. The nuclei of the mesencephalic tegmentum contain abundant labeled cells and a conspicuous cell population is localized medial and caudal to the isthmic nucleus. Numerous cells in the rhombencephalon are distributed in the octaval area, raphe nucleus, reticular nuclei, sensory trigeminal nuclei, nucleus of the solitary tract, and, at the obex levels, the dorsal column nucleus. Positive fibers are abundant in the superior olivary nucleus, the descending trigeminal, and the solitary tracts. In the spinal cord, a large population of intensely labeled neurons is present in all fields of the gray matter throughout its rostrocaudal extent. Several sensory pathways were heavily stained including part of the olfactory, visual, auditory, and somatosensory pathways. The distribution of ND-positive cells did not correspond to any single known neurotransmitter or neuroactive molecule system. In particular, abundant codistribution of ND and catecholamines is found in the anuran brain. Double labeling techniques have revealed restricted colocalization in the same neurons and only in the posterior tubercle and locus coeruleus. If ND is in amphibians a selective marker for neurons containing nitric oxide synthase, as generally proposed, with this method the neurons that may synthesize nitric oxide would be identified. This study provides evidence that nitric oxide may be involved in novel tasks, primarily related to forebrain functions, that are already present in amphibians.     

On the crystalline nature of poly(di-isopropyl fumarate)

Summary Molecular order of poly(di-isopropylfumarate) (PDIPF), obtain ed by free-radical initiation, is investigated by calorimetric measurements and X-ray diffraction analysis. It is found that the polymer decomposes without melting at temperatures above 200°C while displaying two endothermic transitions, probably of the solid-solid type, at 65 and 126°C respectively. Further evidence of crystalline order and orientability is provided by the X-ray experiments which show one equatorial (11.16 Å) and two meridional (4.81 and 2.40 Å) reflections respectively. The corresponding stereoselective nature of the polymerization reaction is interpreted as resulting from the steric influence of the bulky isopropyl substituents of the monomer.     

Lipids and lipogenic enzymes in adipose tissue of castrated male goats

Male goats (“Criolla Argentina” breed), castrated at 45 days of age, showed altered lipid metabolism 180 days after castration as compared to control goats. Subcutaneous, perirenal and omental adipose tissues of castrated goats showed increases in fatty acid synthetase, glucose-6-phosphate dehydrogenase and NADP-isocitrate dehydrogenase activities. Castration increased the amount of total lipids and triglycerides, but did not modify the amount of cholesterol, phospholipid and protein in the three types of adipose tissue. The incorporation of [1-¹⁴C]acetate into fatty acids of subcutaneous and perirenal adipose tissue was increased in castrated goats in relation to noncastrated goats. Our results suggest that removal of gonadal steroids increases significantly the rate of lipogenesis in adipose tissue of male goats.     

Vasitis nodosa

PURPOSE: To report the association of keratoconus and Turner's syndrome in three patients and to review the ophthalmic manifestations of Turner's syndrome. METHODS: Three patients with keratoconus and Turner's syndrome were identified and reported in a retrospective review. RESULTS: These three cases represent the first series of patients with keratoconus and Turner's syndrome. All three patients underwent penetrating keratoplasty with good visual rehabilitation. None of the patients had other ocular features associated with Turner's syndrome. CONCLUSION: Turner's syndrome is commonly associated with ocular problems. In this series we identify an association of keratoconus with Turner's syndrome. Clearly, a careful ocular examination in this condition with attention to ocular features of Turner's syndrome is important.     

Basal ganglia organization in amphibians: afferent connections to the striatum and the nucleus accumbens

As part of a research program to determine if the organization of basal ganglia (BG) of amphibians is homologous to that of amniotes, the afferent connections of the BG in the anurans Xenopus laevis and Rana perezi and the urodele Pleurodeles waltl were investigated with sensitive tract-tracing techniques. Hodological evidence is presented that supports a division of the amphibian BG into a nucleus accumbens and a striatum. Both structures have inputs in common from the olfactory bulb, medial pallium, striatopallial transition area, preoptic area, ventral thalamus, ventral hypothalamic nucleus, posterior tubercle, several mesencephalic and rhombencephalic reticular nuclei, locus coeruleus, raphe, and the nucleus of the solitary tract. Several nuclei that project to both subdivisions of the BG, however, show a clear preference for either the striatum (lateral amygdala, parabrachial nucleus) or the nucleus accumbens (medial amygdala, ventral midbrain tegmentum). In addition, the anterior entopeduncular nucleus, central thalamic nucleus, anterior and posteroventral divisions of the lateral thalamic nucleus, and torus semicircularis project exclusively to the striatum, whereas the anterior thalamic nucleus, anteroventral, and anterodorsal tegmental nuclei provide inputs solely to the nucleus accumbens. Apart from this subdivision of the basal forebrain, the results of the present study have revealed more elaborate patterns of afferent projections to the BG of amphibians than previously thought. Moreover, regional differences within the striatum and the nucleus accumbens were demonstrated, suggesting the existence of functional subdivisions. The present study has revealed that the organization of the afferent connections to the BG in amphibians is basically similar to that of amniotes. According to their afferent connections, the striatum and the nucleus accumbens of amphibians may play a key role in processing olfactory, visual, auditory, lateral line, and visceral information. However, contrary to the situation in amniotes, only a minor involvement of pallial structures on the BG functions is present in amphibians.     

Protonation of Nucleobases in Single‐ and Double‐Stranded DNA

Single‐stranded model oligodeoxyribonucleotides, each containing a single protonatable base—cytosine, adenine, guanine, or 5‐methylcytosine—centrally located in a background of non‐protonatable thymine residues, were acid‐titrated in aqueous solution, with UV monitoring. The basicity of the central base was shown to depend on the type of the central base and its nearest neighbours and to rise with increasing oligonucleotide length and decreasing ionic strength of the solution. More complex model oligonucleotides, each containing a centrally located 5‐methylcytosine base, were comparatively evaluated in single‐stranded and double‐stranded form, by UV spectroscopy and high‐field NMR. The N³ protonation of the 5‐methylcytosine moiety in the double‐stranded case occurred at much lower pH, at which the duplex was already experiencing general dissociation, than in the single‐stranded case. The central guanine:5‐methylcytosine base pair remained intact up to this point, possibly due to an unusual alternative protonation on O² of the 5‐methylcytosine moiety, already taking place at neutral or weakly basic pH, as indicated by UV spectroscopy, thus suggesting that 5‐methylcytosine sites in double‐stranded DNA might be protonated to a significant extent under physiological conditions.