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PubMed2002

Alteration of stringent response of the Escherichia coli rnpB promoter by mutations in the -35 region.

It is well known that the GC-rich discriminator region between the -10 region and the transcription start site is important for the stringent control of the transcription. However, the discriminator activity is influenced by flanking regions, in particular in conjunction with the promoter -35 and -10 sequences. In this study, we changed the sequence in the -35 region of the rnpB P-1 promoter to see how such changes affect the stringent control. The sequence variation in the -35 region changed the stringent signal. The change to the consensus TTGACA sequence caused the most prominent relieving effect on stringent repression of the rnpB transcription. The spacing between the -35 and -10 regions is also significant because the relieving effect of the TTGACA was offset by the change of the spacing from 17 to 16 bp. The nucleotide just upstream of the -35 region contributes toward generating stringent signals as well.

Base Sequence↗

PubMed1996

Length variation, heteroplasmy and sequence divergence in the mitochondrial DNA of four species of sturgeon (Acipenser).

The extent of mtDNA length variation and heteroplasmy as well as DNA sequences of the control region and two tRNA genes were determined for four North American sturgeon species: Acipenser transmontanus, A. medirostris, A. fulvescens and A. oxyrhnychus. Across the Continental Divide, a division in the occurrence of length variation and heteroplasmy was observed that was concordant with species biogeography as well as with phylogenies inferred from restriction fragment length polymorphisms (RFLP) of whole mtDNA and pairwise comparisons of unique sequences of the control region. In all species, mtDNA length variation was due to repeated arrays of 78-82-bp sequences each containing a D-loop strand synthesis termination associated sequence (TAS). Individual repeats showed greater sequence conservation within individuals and species rather than between species, which is suggestive of concerted evolution. Differences in the frequencies of multiple copy genomes and heteroplasmy among the four species may be ascribed to differences in the rates of recurrent mutation. A mechanism that may offset the high rate of mutation for increased copy number is suggested on the basis that an increase in the number of functional TAS motifs might reduce the frequency of successfully initiated H-strand replications.

Animals↗

PubMed2002

Hospital care utilization of infants born after IVF.

BACKGROUND: Infants born after IVF are often twins, and singleton IVF babies have an increased risk for preterm birth. Both conditions are likely to increase morbidity. We examined the frequency and duration of hospitalization required by babies born after IVF, and compared this information with all infants born in Sweden during the same time period. METHODS: We used a nationwide registration of IVF pregnancies from 1984 to 1997 and a nationwide register of all in-patient care up to the end of 1998. We identified 9056 live born infants after IVF treatment and compared them with 1 417 166 non-IVF live born infants. RESULTS: The highest odds ratio (OR approximately 3) was seen for neonatal hospitalization, but an increased OR (1.2-1.3) was noted for children up to 6 years of age. The OR for being hospitalized after IVF was 1.8, but when the analysis was restricted to term infants it was 1.3 and this excess was then explainable by maternal subfertility. Statistically significant increased ORs were seen for hospitalization for cerebral palsy (1.7), epilepsy (1.5), congenital malformation (1.8) or tumour (1.6), but also for asthma (1.4) or any infection (1.4). When information from the Swedish Cancer Registry was used, no excess risk for childhood cancer was found. The average number of days spent in hospital by IVF and non-IVF children was 9.5 and 3.6 respectively. CONCLUSIONS: The increased hospitalization of IVF children is, to a large extent, due to the increased incidence of multiple births. Therefore, the increased costs associated with this may be reduced by the use of single embryo transfers, with the savings in health care costs being offset against the increased number of embryo transfer cycles required to maintain the pregnancy rate.

Birth Rate↗

PubMedDate not supplied

An embryonal carcinoma multiple phenotype locus maps to the proximal position of the mouse X chromosome.

A mutant embryonal carcinoma cell line, NR1-6, was established subsequent to retroviral insertion. The insertion was shown to be causative for a number of aberrant properties associated with the mutant cells. Analysis of >17 kb of the insertion site flanking region failed to reveal any homology between this locus and any reported sequence with the exception of one EST of unknown function and a few repetitive elements including B1 element and a CA dinucleotide repeat. CA repeats occur commonly in the mouse genome and usually show size variation. In this study, we mapped this multiphenotype locus using CA repeat polymorphism and Jackson Laboratory's interspecific backcross panels. The locus maps to the proximal end of the X chromosome between MGI offsets 1.5 and 4.5 and has been designated DXUalb1. There are several interesting candidate genes within this region. Analyses of their expression pattern may lead us to a better understanding of the molecular regulation of the variant mutant phenotypes.

Animals↗

PubMed1998

Parallel hybridization analysis of multiple protein kinase genes: identification of gene expression patterns characteristic of human hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is one of the major causes of human cancer deaths worldwide. To identify alterations of the genetic program associated with human HCC, we designed a new protocol based on the high-density replica method to analyze protein kinase gene expression in normal liver, HCC, and HCC-derived cell lines. RNA was prepared for reverse transcription and cDNA was used for PCR amplification of the conserved catalytic domain of protein kinase genes. Initially, from a pair of HCC and the adjacent noncancerous tissues, we sequenced 228 samples and identified 26 genes that represent different tyrosine kinase subfamilies. High-density grid filters were then prepared to assist the identification, by hybridization, of genes that are differentially expressed in normal vs HCC samples. Eleven tyrosine kinase genes were tested, and positive signals were reliably scored by doubly offset duplicates and by two independent gene-specific probes. Of the 11 genes tested, PDGF receptor-beta, MEKK-3, axl, and FGFR-4 are preferentially expressed in tumor samples. Additionally, we analyzed protein kinase gene expression in five HCC cell lines and identified distinct kinase gene expression patterns in different cell lines. Our results suggest that multiple kinases are activated in different tumors and confirm that there is molecular heterogeneity in the mechanisms sustaining autonomous cell growth in liver tumor formation.

Blotting, Northern↗

PubMed2004

Predicting intentions to consume functional foods and supplements to offset memory loss using an adaptation of protection motivation theory.

The widespread use of dietary supplements and so-called 'functional foods' is thought to be partially motivated by self-control of health. However, whilst consumers want foods associated with well-being or disease prevention, they are unlikely to be willing to compromise on taste or technology. This presents a dilemma for promoters of functional foods. Middle-aged consumers' intentions to consume functional foods or supplements that may improve memory were tested within an adaptation of Protection Motivation theory (PMT). Participants evaluated text descriptions of four products described as: having an unpleasant bitter taste (Natural-FF); having 'additives' to reduce bitterness (Sweetened-FF); being genetically modified to enhance function (GM-FF) and Supplements. Participants were recruited as being of high and low perceived vulnerability to memory failure. In total, 290 middle-aged consumers (aged 40-60 years) participated in the study. Motivations to consume the GM-FF were the lowest. There were gender differences between intention to consume the supplements, Natural-FF and Sweetened-FF and product differences within genders. Women were less favourable than men in their attitudes towards genetic modification in general. Regression analyses indicated that PM predictors of intention to consume functional foods or supplements explained 59-63% of the variance (R2). Overall, perceived 'efficacy' (of the behaviour) and self-efficacy were the most important predictors of intentions to consume.

Adult↗

PubMed1987

Low molecular weight thiol content in glutathione synthetase-deficient human fibroblasts.

The activity and the kinetic properties of glutathione synthetase and the concentrations of non-protein bound thiols of the gamma-glutamyl cycle were measured in 11 human fibroblast cell strains. Six of these strains were derived from patients suffering from 5-oxoprolinuria, a recessive genetic disease characterized by a deficiency in glutathione synthetase; the other cell strains were derived from healthy heterozygous or homozygous relatives of the patients. The glutathione synthetase activities of homozygous deficient strains were 1/3 of control values while those of heterozygous strains were 2/3 of control values. The total thiol concentration was lower in only 3 of the 6 deficient homozygotes and that of glutathione (GSH) was lower in only 4 of the 6 deficient homozygotes. This lower GSH level was at least partly offset by an accumulation of gamma-glutamylcysteine, a precursor of GSH, which is almost completely absent from control cells. The total quantities of thiols and GSH in plateau phase cells were about 50% and 30% respectively of the levels in growth phase cells. Approximately 80% of the GSH was in the reduced form in both quiescent and growing cells.

Dipeptides↗

PubMed2004

Overexpression of the barley aquaporin HvPIP2;1 increases internal CO(2) conductance and CO(2) assimilation in the leaves of transgenic rice plants.

The internal conductance for CO(2) diffusion (g(i)) and CO(2) assimilation rate were measured and the related anatomical characteristics were investigated in transgenic rice leaves that overexpressed barley aquaporin HvPIP2;1. This study was performed to test the hypothesis that aquaporin facilitates CO(2) diffusion within leaves. The g(i) value was estimated for intact leaves by concurrent measurements of gas exchange and carbon isotope ratio. The leaves of the transgenic rice plants that expressed the highest levels of Aq-anti-HvPIP2;1 showed a 40% increase in g(i) as compared to g(i) in the leaves of wild-type rice plants. The increase in g(i) was accompanied by a 14% increase in CO(2) assimilation rate and a 27% increase in stomatal conductance (g(s)). The transgenic plants that had low levels of Aq-anti-HvPIP2;1 showed decreases in g(i) and CO(2) assimilation rate. In the plants with high levels of Aq-anti-HvPIP2;1, mesophyll cell size decreased and the cell walls of the epidermis and mesophyll cells thickened, indicating that the leaves had become xeromorphic. Although such anatomical changes could partially offset the increase in g(i) by the aquaporin, the increase in aquaporin content overcame such adverse effects.

Aquaporins↗

PubMed2003

The attention-deficit hyperactivity disorder paradox: 2. Phenotypic variability in prevalence and cost of comorbidity.

The objective of this study was to use population-based data to estimate the cost and phenotypic variation of conditions comorbid with attention-deficit hyperactivity disorder (ADHD). The North Dakota Department of Health's Claims Database was used to estimate the administrative prevalence, rates of comorbidity, and cost of care for subjects with ADHD. The case population was 7745 children. We then examined the 10 most frequent comorbidities for a defined condition in the International Classification of Diseases-9th edition (ICD-9). The observed prevalence of general health conditions was 12 to 70% less than expected. The presence of a comorbid condition resulted in increases in costs of care of dollar 381 to dollar 731 per case per year. The observed prevalence of comorbid mental health conditions was 97 to 5286% higher than expected. The prevalence of conditions comorbid with ADHD varies widely, with rates of general medical conditions decreased and rates of most mental disorders increased. The costs for comorbidity with general health conditions were offset by large decreases in prevalence rates compared with controls. We identified an ADHD paradox: decreased rates of comorbid general health conditions and increased rates of comorbid mental disorders. Further research on comorbidity in ADHD is required.

Attention Deficit Disorder with Hyperactivity↗

PubMed1981

[Selection of laboratory rats for fertility components in synchronized estrus using Suisychron-Praemix. 1. Effects of selection and synchronization].

The following results were obtained from experimental studies into effects of selection for fertility and into synchronised oestrus though eight generations of laboratory rats: -- The result of selection recordable from the population with selection only was better than that recorded from the population with selection and synchronised oestrus. This has been attributed to higher correlation between phenotype and genotype in the selection variant. -- Direct negative impact of synchronised oestrus on selection index was recorded from a population with random mating. -- The effects of synchronised oestrus regarding selection success were offset but not entirely ruled out by selection. -- Through the generations of both populations with synchronised oestrus the effects of synchronisation were lowered due to both physiological adaptation to Suisynchron application and contraselection with regard to suitability for synchronisation.

Animals↗

PubMed1991

Influence of partial suckling of crossbred dairy cows on milk offtake and calf growth in the Ethiopian highlands.

The effects of implementing a restricted suckling regime with crossbred dairy cows have been examined in the Ethiopian highlands. Calves were allowed to suckle their dams for two minutes before each milking until weaning and this system was compared with the common practice of rearing by bucket feeding. Restricted suckling significantly increased calf growth rate to weaning, from 0.31 to 0.53 kg/d (P less than 0.01). No differences in calf growth post-weaning occurred, so that the 20 kg difference in liveweight that had been achieved by the restricted suckled calves by the time of weaning persisted until the calves were nine months old, when observations ceased. Total milk offtake was not significantly affected by treatment, although that obtained from the partially-suckled animals over their whole lactation exceeded that from the other treatment by 15%. Partial suckling delayed return to oestrus post partum but this was offset to some degree by fewer services per conception, hence calving interval was not significantly increased. Voluntary feed consumption was similarly unaffected and it is concluded that restricted suckling offers tangible advantages for adoption by smallholders using crossbred cows in dairy production systems.

Animals↗

PubMed1999

Strand interruptions confer strand preference during intracellular correction of a plasmid-borne mismatch in Saccharomyces cerevisiae.

Site-directed mutagenesis was used to construct yeast centromere plasmids in which a strand nick or gap could be placed 5' or 3', on either strand, to a reporter gene (SUP4-o) carrying defined base mismatches. The plasmids were then transformed into yeast cells and the direction and efficiency of mismatch repair were assayed by scoring colouring of the transformant colonies. Strands that were nicked were consistently corrected more often than intact strands, but the effect was very small. However, placement of a small gap at the same positions as the nicks resulted in a marked increase in selection for the gapped strand and an enhanced efficiency of mismatch repair. Both the preference for the gapped strand and correction of the mismatch were offset by deletion of the mismatch repair gene PMS1. Together, the results suggest that strand interruptions can direct intracellular mismatch correction of plasmid-borne base mispairs in yeast.

Base Pair Mismatch↗

PubMed2001

Do better family planning services reduce abortion in Bangladesh?

BACKGROUND: Fertility decline is often associated with an increase in contraception and abortion, but the causal relations are difficult to examine with non-experimental data. We aimed to assess the effects of family planning services on abortion rates in two similar areas. METHODS: We examined trends in overall abortion rates and rates for intended and unintended pregnancies in two similar areas typical of rural Bangladesh. We analysed Matlab Demographic Surveillance System (DSS) data on pregnancy outcomes between 1979 and 1998 in these areas, matching them to survey data on fertility preferences, which enabled us to identify pregnancies as intended or unintended. FINDINGS: Abortion rates were significantly lower in the area with better family planning services compared with the comparison area (1984-86, 2.2 vs 5.2; 1996-98, 2.3 vs 6.8). Abortion of unintended pregnancies is similar in both areas, but the higher levels of contraceptive use in the treatment area have led to lower levels of unintended pregnancy and abortion. The likelihood that an unintended pregnancy will be aborted has increased in both areas but the decrease in unintended pregnancies was sufficiently large in the treatment area to offset this increase. INTERPRETATIONS: Abortion may increase during the fertility transition in less-developed countries as the desire to limit family size increases unless there is widespread availability of quality family planning services.

Abortion, Induced↗

PubMed2003

The endocannabinoid system and Huntington's disease.

The research in Huntington's disease (HD) has been growing exponentially during the last decade, since the discovery of the genetic basis that leads to neurodegeneration. HD is one of several progressive neurodegenerative disorders, in which the underlying mutation is a CAG expansion encoding a polyglutamine tract in a specific protein, which in the case of HD, is called huntingtin. The first clinical symptoms of HD are generally psychiatric abnormalities, most commonly depression and mood disturbances. Involuntary choreiform movements and dementia develop over the next 15-20 years, and death generally results from complications derived from immobility. There is currently no cure, or even an effective therapy to offset the decline in mental and motor capabilities suffered by those affected by HD, but recent studies have started to examine the usefulness of different classes of new compounds. Among these, plant-derived, synthetic or endogenous cannabinoids have been proposed to have therapeutic value for the treatment of HD, since they act on cannabinoid CB(1) receptors located in the basal ganglia circuitry, that is affected by the striatal atrophy typical of HD. Recent studies have characterized the changes in these receptors, as well as their endogenous ligands, in the basal ganglia in a variety of animal models of HD. The results are indicative that the endocannabinoid system becomes hypofunctional in this disease, which could be related to the hyperkinesia typical of the earliest phases of this disease. In addition, it has been proposed that the loss of these receptors might be involved in the process of pathogenesis itself. This, together with the well-known protective properties of cannabinoid-related compounds, suggest that, in addition to a symptomatic usefulness, cannabinoids might also serve to delay or to arrest the development of this disease. The present article will review all recent data dealing with the biochemical, pharmacological and therapeutic bases that support a potential role of cannabinoids in the pathogenesis and/or therapeutic treatment of this motor disorder.

Animals↗

PubMed1983

Age correlation between mates and average consanguinity in age-structured human populations.

When population geneticists wish to determine the genetic consequences of some aspect of mating behavior, it is often necessary to compare observed levels of consanguinity to the level expected when mating is random with respect to the factor being studied. Expectations under random mating are often derived from discrete generation models that ignore age structure. Observed frequencies of consanguineous matings are due to processes that are continuous in time and are affected by variables that are functions of age structure. The extent to which this discrepancy between the models and reality might distort conclusions drawn from comparisons of observed and expected behavior has received insufficient attention. One potential source of error is the tendency for people to choose mates whose ages differ from their own by a certain amount; this tendency influences the frequency of consanguineous matings. Age correlation between mates should therefore also affect average consanguinity between mates and average inbreeding in the population. Expected levels of consanguinity might then differ depending on whether or not age structure has been taken into account. Hajnal developed a model that predicts the frequencies of consanguineous matings in age-structured populations. Hajnal's model is extended here to include relationships that are defined by lineal descent as well as by common ancestry, and to allow calculation of the frequencies of consanguineous matings in the absence of age correlation between mates. The extended model is then used to determine the effect of age correlation between mates on average consanguinity under various sets of conditions. The magnitude of this effect depends on the degree to which the increased frequency of some types of consanguineous matings is offset by the decrease in other types of matings. There is a fairly wide range of conditions under which this compensation is nearly complete and therefore under which the overall effect of age correlation is small. But the size of this effect is sensitive to many factors, especially the distribution of age differences between mates and the variances of ages at maternity and paternity. Under some conditions, age correlation between mates will have a substantial effect on average consanguinity.

Age Factors↗

PubMed1985

A study of some genetic characteristics of the Fur and Baggara tribes of the Sudan.

The average inbreeding coefficients of the highly consanguineous Fur and Baggara tribes of Western Sudan were 0.04167 and 0.04450, respectively. Two hundred ninety-eight subjects from the two tribes were tested for polymorphism of hemoglobins, seven red cell enzymes, and four serum proteins. The Baggara showed a higher gene frequency of HbS and TfD and lower gene frequency of GdA and PC compared to the Fur. Both tribes showed a low gene frequency of PGM1 and high frequency of G6PD deficiency when compared to other Sudanese tribes. In spite of the high degree of inbreeding, no significant deviation from the Hardy-Weinburg equilibrium was observed in either tribe. The effects of inbreeding seem to be offset by mixing between the two tribes on Gabal Marra Plateau. The flow of the sickle gene from the Baggara into the Fur and other Sudanese tribes is discussed.

Acid Phosphatase↗

PubMed1992

Cytogenetic abnormalities in childhood acute lymphoblastic leukemia correlates with clinical features and treatment outcome.

Virtually all cases of childhood acute lymphoblastic leukemia have chromosomal abnormalities. Non-random chromosomal abnormalities have been correlated with leukemic cell lineage, the degree of cell differentiation and certain clinical and biologic features. Cytogenetic findings have prognostic significance, but the adverse influence of many rearrangements, including most chromosomal translocations, may be offset by the greater cytoreductive effects of intensified therapy. Cytogenetic abnormalities have also provided focus for molecular studies of leukemogenesis. Such studies have recently identified key genes and their protein products which play important roles in malignant transformation and proliferation.

Chromosome Aberrations↗

PubMed1999

Asymmetric contributions to RNA binding by the Thr(45) residues of the MS2 coat protein dimer.

A prominent feature of the interaction of MS2 coat protein with RNA is the quasi-symmetric insertion of a bulged adenine (A-10) and a loop adenine (A-4) into conserved pockets on each subunit of the coat protein dimer. Because of its presence in both of these adenine-binding pockets, Thr(45) is thought to play an important role in interaction with RNA on both subunits of the dimer. To test the significance of Thr(45), we introduced all 19 amino acid substitutions. However, we were initially unable to determine the effects of the mutations on RNA binding because every substitution compromised the ability of coat protein to fold correctly. Genetic fusion of coat protein subunits reverted these protein structural defects, allowing us to show that the RNA binding activity of coat protein tolerates substitution of Thr(45), but only on one or the other subunit of the dimer. Single-chain heterodimer complementation experiments suggest that the primary site of Thr(45) interaction with RNA is with A-4 in the translational operator. Either contact of Thr(45) with A-10 makes little contribution to stability of the RNA-protein complex, or the effects of Thr(45) substitution are offset by conformational adjustments that introduce new, favorable contacts at nearby sites.

Capsid↗