Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses

Infantile neuronal ceroid-lipofuscinosis (CLN1) is the form of neuronal ceroid-lipofuscinoses (NCL) with the earliest onset of symptoms. The locus of the most common form of these disorders, juvenile NCL (CLN3), has been mapped to chromosome 16. We report here linkage data of the same region in Finnish CLN1 families. Our results indicate that CLN1 is not allelic with CLN3 but represents a different locus, which is not located within about 70 cM in chromosome 16.     

Antagonistic effects of mutant elongation factor Tu and ribosomal protein S12 on control of translational accuracy, suppression and cellular growth

Kirromycin-resistant mutant forms of elongation factor Tu, which are coded by tufA (Ar) or tufB (Bo) and are associated with an increased rate of translational error formation, have been analysed. In vivo, Ar was found to increase misreading as well as suppression of non-sense codons irrespective of Bo in a strain with wild type ribosomes. It is therefore not necessary to evoke both tufA (Ar) and tufB (Bo) mutations together in order to increase translational error as suggested earlier [1]. When combined with a hyperaccurate ribosomal rpsL (S12) mutation, Ar counteracts the restrictive effects on translational error formation caused by the altered protein S12, thus restoring the levels of missense error in vitro and non-sense error and suppression in vivo to near wild type values. As judged from in vitro experiments this results principally from a lowered selectivity of the Ar ternary complex at the initial discrimination step on the ribosome during translation. In vivo, this compensatory effect on the rpsL mutation on non-sense error formation and suppression is seen irrespective of the nature of tRNA or codon context. Furthermore, the tufA mutation enhances the cellular growth rate of the rpsL mutant, whereas it decreases growth of strains with normal ribosomes. Inactivation of one of the two genes coding for EF-Tu (tufB), while leaving the other gene (tufA) intact, can by itself, increase non-sense error formation and suppression.     

Tn10 generated deletions of the ompB locus of Escherichia coli K12

Abstract We have isolated a set of Tn 10 -generated deletions starting from the distal end of the ompR envZ operon of Escherichia coli K12. Most of the deletions removed both ompR and envZ genes or ended in ompR . These deletions exhibited an OmpC⁻ OmpF⁻ phenotype. One deletion removed only part of envZ and the strain was phenotypically OmpC⁻ OmpF^+/−. This deletion of the distal part of envZ did not affect osmoregulation of ompC . However, ompF osmoregulation appeared reversed. High osmolarity in the growth medium resulted in production of OmpF close to the wild-type level.     

Dietary phytoestrogens and cancer: in vitro and in vivo studies

Thirty postmenopausal women (11 omnivores, 10 vegetarians and 9 apparently healthy women with surgically removed breast cancer) were investigated with regard to the association of their urinary excretion of estrogens, lignans and isoflavonoids (all diphenols) with plasma sex hormone binding globulin (SHBG). A statistically significant positive correlation between urinary total diphenol excretion and plasma SHBG was found which remained statistically significant after elimination of the confounding effect of body mass determined by body mass index (BMI). Furthermore we found a statistically significant negative correlation between plasma SHBG and urinary excretion of 16α-hydroxyestrone and estriol which also remained significant after eliminating the effect of BMI. Furthermore we observed that enterolactone (Enl) stimulates the synthesis of SHBG by HepG2 liver cancer cells in culture acting synergistically with estradiol and at physiological concentrations. Enl was rapidly conjugated by the liver cells, mainly to its monosulfate. Several lignans and the isoflavonoids daidzein and equol were found to compete with estradiol for binding to the rat uterine type II estrogen binding site (the s.c. bioflavonoid receptor). It is suggested that lignans and isoflavonoids may affect uptake and metabolism of sex hormones by participating in the regulation of plasma SHBG levels and in this way influence their biological activity and that they may inhibit cancer cell growth like some flavonoids by competing with estradiol for the type II estrogen binding sites.     

Water chemistry of Lake Ladoga and Russian-Finnish intercalibration of analyses

As part of the Russian-Finnish research studies on Lake Ladoga, joint expeditions were organized in 1992 and 1993. Water samples were collected for intercalibration of chemical analysis methods and to monitor the chemical quality of the lake water.In August of 1992 water samples were taken from northern Lake Ladoga for intercalibration of Russian and Finnish analysis methods. In August 1993 water samples were collected from 23 sampling stations in all parts of the lake; some of these were also used for intercalibration purposes.The oxygen, colour and COD_Mn results were at the same level in the intercalibration. In 1993, the P_tot results obtained were acceptable. In N_tot, Fe and Mn analysis there seemed to be systematic and random errors between some results.The Secchi depth ranged from 1.5 m to 3.3 m. The average concentrations for the total phosphorus ranged from 15 µg 1^–1 to 29 µg 1^–1. The total nitrogen values were from 620 µg 1^–1 to 690 µg 1^–1. The N:P ratio varied from 24 to 40. The concentration of phosphorus indicated mesotrophic or even eutrophic conditions in the lake. Phosphorus seemed to be the limiting nutrient to bacteria and algae.