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PubMed1999

[Principles of formalizing a quantitative evaluation of the genetic danger of chemical compounds for man].

Specific characteristics of the mutagenic effect of chemicals, which must be taken into account in developing the test system to assess the potential genetic risk caused by chemical substances, are considered. The organizational principles of the procedures currently available for testing and ranking chemicals by their mutagenic and carcinogenic hazard to humans are discussed. The use of selective information suggested by Wiener and Shannon as an efficiency measure of testing and estimating the potential genetic hazard of chemical substances is substantiated. The feasibility of this approach was demonstrated by testing the efficiency of the battery of two short-term in vitro tests as an example. It was shown that selective information is able to serve as an integral universal criterion of the efficiency of testing, if either one test or the test battery were used.

Animals↗
PubMedDate not supplied

[Influence of selection forms on genetic structure of domestic animals].

Analysis of genetic structure of pure and crossbred sheep and cattle with the use of genetic-biochemical markers was carried out. Data on breed- and locus-specific genetic traits, stable in the time, were obtained. In sheep, breed-specific peculiarities of genetic structure partly related with the belonging of breeds to breed groups with fine-, semi-fine and coarse wool. The preferable influence of artificial selection at the phenotype complex traits in comparison with natural selection and animal origin on the genetic structure of crossbred sheep was revealed. However, the more profound effects of natural selection on the genetic structure of crossbred cattle were observed.

Alleles↗
PubMed2005

Mapping QTLs for alpha-amylase activity in rye grain.

Genetic control of alpha-amylase activity in rye grain was investigated by QTL mapping based on DS2 x RXL10 intercross consisting of 99 F5-6 families propagated at one location during four vegetation seasons. A wide range of variation in alpha-amylase activity and transgression effects were found among families and parental lines. This variation was shown to be determined in 40.1% by 7 significant (LOD score not less than 2.5) and 2 putative QTLs (2 < LOD < 2.5) distributed on all rye chromosomes except 4R. Two significant QTLs located on 3RL and 5RL chromosome arms were expressed each year. The third significant QTL was detected in three years (1RL). The other four significant QTLs (2RL, 5RS, 6RL, 7RL) were found in one year of study. The number and composition of QTLs were specific for a given year varying from three to six. QTLs were not correlated with isoenzyme polymorphisms at the structural alpha-Amy1 loci. A QTL associated with a region containing the alpha-Amy3 locus was detected on chromosome 5RL. Both high- and low-activity QTL alleles were found in each parental line, which explains the appearance of transgressive recombinants in the segregating population.

Chromosome Mapping↗
PubMed2005

Microsatellite analysis of royal jelly producing traits of Italian honeybee (Apis mellifera Liguatica).

Genetic variations at 10 microsatellite loci were surveyed to determine the evolutionary relationships and molecular characteristics of three different honeybee (Apis mellifera L.) populations from Italy and China, i. e., native Italian (Ee), Chinese-Italian (Eb) and selected high royal jelly producing bees (Ea). A total of 96 alleles,an average of 9.6 alleles per locus,were scored in Ee,Eb and Ea bees at 10 loci. Out of which 48 (5%) were different. This indicated a high degree of polymorphism and ever, some genetic differentiation among the three populations due to artificial selection and geographical isolation. The polymorphic information contents (PIC) and heterozyosity of the three populations at 10 loci were 0.57, 0.50, 0.57, and 0.60, 0.57, 0.61, for Ee, Eb, Ea populations respectively, neither of which were different. This indicated same gene diversity within the three populations. The genetic distance was shorter between Ee and Eb bees as well as between Eb and Ea bees. Whereas that between Ee and Eb bees was longer. Further analysis indicated that the allele frequency of seven alleles at six loci (159 bp at A29,100 bp and 104 bp at A24; 110 bp at A7; 126 bp at A43, 221 bp at A14 and 221 bp at A113) increased going from Ee to Eb to Ea bees. Paired tests showed significant higher allele frequency between Ea and Eb bees,as well as between Ea and Eb bees. This indicates that these seven alleles are likely molecular markers of the high royal jelly producing bees. In addition,the allele frequency of four alleles at four loci (106 bp at A24,140 bp at A43;215 bp at A113 and 219 bp at A14) decreased going from Ea bees to Eb to Ee. Paired tests indicated significant lower allele frequency between Ea and Ee bees,as well as between Ea and Eb bees. Those four alleles may be the genetic markers for low royal jelly production.

Alleles↗
PubMed2005

[Dynamic regimes in a model of single-locus density-dependent selection].

A model of density-dependent selection in a Mendelian single-locus population was analyzed in the case where the fitnesses of genotypic forms are exponential functions of the population size. Analytical and numerical studies of the model were performed for a diallelic locus, and parametric regions were established for different dynamic behaviors of the model. The diallelic model of density-dependent selection was generalized to a multiallelic locus; the results of its analysis are described.

Models, Genetic↗
PubMedDate not supplied

[Alternative promoters and oct-1 gene tissue-specific regulation].

Murine oct-1 gene contains exons IU and 1L at 5'-end, which are alternatively presented in oct-1 mRNA. 1U exon is presented in oct-1 mRNA expressed in all tissues whereas lymphoid cells of mouse and human express mRNA containing alternatively IU or 1L exon. Upstream of these exons there are U and L promoters, respectively, which are separated by 67 kb in mice otf-1 locus. Nucleotide sequences located upstream 1U and 1L exons are very different: IU region contains a number of Sp1 sites and 1L region contains many homeo-specific sites and two octamers ATGCAAAT recognized by transcription factors Oct-1, Oct-2 and other POU-domain containing proteins. Oct-1 sites may participate in oct-1 gene autoregulation. The role of U- and L-promoter fragments in oct-1 gene regulation was studied by transfection of luc-containing constructs in lymphoid (NS/0) and non-lymphoid cells. It was shown that L-promoter efficiency is much higher in lymphoid cells than in fibroblast cell line 10/1. U-promoter is active in both types of the cells. Upstream of IL-exon there is the inhibitory nucleotide sequence which elimination increases the expression level by many times. This silencing element is located between initiation starts of transcription and translation. The obtained data suggest that oct-1 gene contains at least two alternative promoters. It seems that U-promoter promises the constitutive synthesis of Oct-1 protein whereas L-promoter is tissue-specific and putatively is inducible and autoregulated.

Animals↗
PubMed1996

Effects of cell cycle position on ionizing radiation mutagenesis. I. Quantitative assays of two genetic loci in a human lymphoblastoid cell line.

Relatively little work has been done on the influence of the position of the cell in the cell cycle on ionizing radiation-induced mutagenesis. We synchronized WTK1 human lymphoblastoid cells with 200 microM lovastatin for 48 h; under these conditions more than 80% of the cells were arrested in G1 phase. Upon release, there was a 12-15-h lag followed by movement of a large fraction into S phase. We irradiated cells with either 1.5 Gy X rays at 1, 15, 18, 21 or 24 h or 1.5 Gy gamma rays at 1, 5, 10, 15 or 24 h after release from lovastatin. We showed that WTK1 cells were most sensitive to ionizing radiation-induced toxicity in G1 and into S phase, and more resistant in mid to late S and G2/M phase. Somewhat surprisingly, we found that the two different gene loci had different sensitivities to radiation-induced mutation through the cell cycle. Cells in late G1 through mid-S phase were most sensitive to radiation-induced mutations at the autosomal thymidine kinase (TK) locus, whereas G1 phase was the most sensitive phase at the X-linked hypoxanthine guanine phosphoribosyl transferase (HPRT) locus.

Cell Cycle↗
PubMed2003

New quantitative trait loci for the genetic variance in circadian period of locomotor activity between inbred strains of mice.

Provisional quantitative trait loci (QTL) for circadian locomotor period and wheel-running period have been identified in recombinant inbred (RI) mouse strains. To confirm those QTL and identify new ones, the genetic component of variance of the circadian period was partitioned among an F2 intercross of RI mouse strains (BXD19 and CXB07). First, a genomic survey using 108 SSLP markers with an average spacing of 15 cM was carried out in a population of 259 (BXD19 x CXB07)F2 animals. The genome-wide survey identified two significant QTL for period of locomotor activity measured by infrared photobeam crossings on mouse chromosomes 1 (lod score 5.66) and 14 (lod score 4.33). The QTL on distal chromosome 1 confirmed a previous report based on congenic B6.D2-Mtv7a/Ty mice. Lod scores greater than 2.0 were found on chromosomes 1, 2, 6, 12, 13, and 14. In a targeted extension study, additional genotyping was performed on these chromosomes in the full sample of 341 F2 progeny. The 6 chromosome-wide surveys identified 3 additional QTL on mouse chromosomes 6, 12, and 13. The QTL on chromosome 12 overlaps with circadian period QTL identified in several prior studies. For wheel-running period, the chromosome-wide surveys identified QTL on chromosomes 2 and 13 and one highly suggestive QTL on proximal chromosome 1. The results are compared to other published studies of QTL of circadian period.

Animals↗
PubMed1995

Molecular cytogenetic quantitation of gains and losses of genetic material from human gliomas.

The unregulated growth that is characteristic of human malignant gliomas is accompanied by, and may result from, losses and/or gains of genetic material. Understanding the mechanisms that underlie how particular genetic aberrations cause dysfunctional growth will help elucidate the pathogenesis of this disease. Two techniques are proving useful in evaluating the clinical relevance of specific genetic aberrations in malignant gliomas. Fluorescence in situ hybridization (FISH) permits direct visualization of gains and losses of genetic material in single cells and quantitation of cellular subpopulations that have particular genetic aberrations. Comparative genomic hybridization can identify regions of genetic gain and loss in tumor DNA.

Brain Neoplasms↗
PubMed1985

A hardware interpretation of the evolution of the genetic code.

A quantitative rationale for the evolution of the genetic code is developed considering the principle of minimal hardware. This principle defines an optimal code as one that minimizes for a given amount of information encoded, the product of the number of physical devices used by the average complexity of each device. By identifying the number of different amino acids, number of nucleotide positions per codon and number of base types that can occupy each such position with, respectively, the amount of information, number of devices and the complexity, we show that optimal codes occur for 3, 7 and 20 amino acids with codons having a single, two and three base positions per codon, respectively. The advantage of a code of exactly 4 symbols is deduced, as well as a plausible evolutionary pathway from a code of doublets to triplets. The present day code of 20 amino acids encoded by 64 codons is shown to be the most optimal in an absolute sense. Using a tetraplet code further evolution to a code in which there would be 55 amino acids is in principle possible, but such a code would deviate slightly more than the present day code from the minimal hardware configuration. The change from a triplet code to a tetraplet code would occur at about 32 amino acids. Our conclusions are independent of, but consistent with, the observed physico-chemical properties of the amino acids and codon structures. These correlations could have evolved within the constrains imposed by the minimal hardware principle.

Amino Acids↗
PubMed2005

Bayesian analysis of quantitative trait loci for boar taint in a Landrace outbred population.

The genetic basis of the main components of boar taint was investigated in intact male pigs in a commercial population. We analyzed fat androsten-one and skatole concentrations from 217 males of an outbred Landrace population. Records were normalized using a logarithm transformation and tested for normality using a Wilk-Shapiro test. Bayesian analysis was then used to map QTL in 10 candidate regions previously selected on chromosomes 1, 2, 3, 4, 6, 7, 8, 9, 10, and 13. The criterion for QTL detection was the Bayes factor (BF) between polygenic models with and without QTL effects. Both traits had considerable genetic determination, with posterior means of total heritabilities ranging from 0.59 to 0.73 for androstenone and from 0.74 to 0.89 for skatole. Positive evidence for a fat skatole QTL was detected on SSC6 (BF = 5.16); however, no QTL for androstenone were found in any of the 10 chromosomal regions analyzed. With the detection of a QTL for the fat skatole concentration segregating in this population, marker-assisted selection or even gene-assisted selection could be used once the causal mutation of the QTL was identified.

Adipose Tissue↗
PubMedDate not supplied

Detection of genetic modification in cured tobacco leaf: proficiency testing using polymerase chain reaction-based methods.

The Cooperation Centre for Scientific Research Relative to Tobacco (CORESTA; Paris, France) "Task Force Genetically Modified Tobacco-Detection Methods" investigated the performance of qualitative and quantitative methods based on the polymerase chain reaction (PCR) for the detection and quantitation of genetically modified (GM) tobacco. In the 4 successful rounds of proficiency testing, the cauliflower mosaic virus 35S RNA promoter (CaMV 35S) and the Agrobacterium tumefaciens nopaline synthase terminator (NOS) were selected as target sequences. Blind-coded reference materials containing from 0.1 to 5.0% and from 0.15 to 4% GM tobacco were used in 2 rounds of qualitative and quantitative PCR, respectively. Eighteen laboratories from 10 countries participated in this study. Considering all methods and 2 rounds, the different laboratories were able to detect GM tobacco at the 0.1% level in 46 out of 58 tests in qualitative assays. The results of the proficiency test indicate that both end point screening and real-time quantitative methods are suitable for the detection of genetically modified organisms in tobacco leaf samples having a GM content of 0.1% or higher. The CORESTA proficiency study represents a first step towards the interlaboratory evaluation of accuracy and precision of PCR-based GM tobacco detection, which may lead to the harmonization of analytical procedures and to the enhancement of comparability of testing results produced by different laboratories.

Agrobacterium tumefaciens↗
PubMed2007

Phenotypic, maximum genetic, and special environmental variability in prehistoric human populations.

The phenotypic variance (V(P)) may be divided into the genetic variance (V(G)), the general environmental variance (V(Eg)), and the special environmental variance (V(Es)). The latter is estimated through repeatability calculation (b). This value is considered the upper limit of heritability and represents maximum genetic variance proportion (V(Gm) = V(G) + V(Eg)) in relation to V(P) (b = (V(G) + V(Eg))/V(P)). This process allows an improved determination of biological relationships among groups from estimators maximizing the genetic information of quantitative characters. Two hundred and thirty-seven individuals inhabiting the northern coast of Chile for 4,000 years were taken as a sample. Measurement was made of six metric characters at both sides of the cranium. Special environmental values (es) were obtained by regression. The difference between these values and the phenotypic values (p) consists in the genetic values plus the general environmental values (g + eg). A mean b value of 0.83 indicated that V(Es) represents 17% of V(P). The results showed: 1) high stability of the maximum genetic variance in time and space, 2) high correlation between the biological relationships model, the phenotypic model, and the maximum genetic model, and 3) random distribution of the nongenetic variation, as expected from the quantitative genetics theory. These results support the use of phenotypic data for the interpretation of the evolution history of prehistoric populations.

Anthropometry↗
PubMed2005

Quantitative trait loci mapped to single-nucleotide resolution in yeast.

Identifying the genetic variation underlying quantitative trait loci remains problematic. Consequently, our molecular understanding of genetically complex, quantitative traits is limited. To address this issue directly, we mapped three quantitative trait loci that control yeast sporulation efficiency to single-nucleotide resolution in a noncoding regulatory region (RME1) and to two missense mutations (TAO3 and MKT1). For each quantitative trait locus, the responsible polymorphism is rare among a diverse set of 13 yeast strains, suggestive of genetic heterogeneity in the control of yeast sporulation. Additionally, under optimal conditions, we reconstituted approximately 92% of the sporulation efficiency difference between the two genetically distinct parents by engineering three nucleotide changes in the appropriate yeast genome. Our results provide the highest resolution to date of the molecular basis of a quantitative trait, showing that the interaction of a few genetic variants can have a profound phenotypic effect.

Adaptor Proteins, Signal Transducing↗