954 resultados para Mendelian inheritance


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Fumigation of stored grain with phosphine (PH 3) is used widely to control the lesser grain borer Rhyzopertha dominica. However, development of high level resistance to phosphine in this species threatens control. Effective resistance management relies on knowledge of the expression of resistance in relation to dosage at all life stages. Therefore, we determined the mode of inheritance of phosphine resistance and strength of the resistance phenotype at each developmental stage. We achieved this by comparing mortality and developmental delay between a strongly resistant strain (R-strain), a susceptible strain (S-strain) and their F 1 progenies. Resistance was a maternally inherited, semi-dominant trait in the egg stage but was inherited as an autosomal, incompletely recessive trait in larvae and pupae. The rank order of developmental tolerance in both the sensitive and resistant strains was eggs > pupae > larvae. Comparison of published values for the response of adult R. dominica relative to our results from immature stages reveals that the adult stage of the S-strain is more sensitive to phosphine than are larvae. This situation is reversed in the R-strain as the adult stage is much more resistant to phosphine than even the most tolerant immature stage. Phosphine resistance factors at LC 50 were eggs 400×, larvae 87× and pupae 181× with respect to reference susceptible strain (S-strain) adults indicating that tolerance conferred by a particular immature stage neither strongly nor reliably interacts with the genetic resistance element. Developmental delay relative to unfumigated control insects was observed in 93% of resistant pupae, 86% of resistant larvae and 41% of resistant eggs. Increased delay in development and the toxicity response to phosphine exposure were both incompletely recessive. We show that resistance to phosphine has pleiotropic effects and that the expression of these effects varies with genotype and throughout the life history of the insect. © 2012.

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Nematode species Pratylenchus thornei and P. neglectus are the two most important root-lesion nematodes affecting wheat (Triticum aestivum L.) and other grain crops in Australia. For practical plant breeding, it will be valuable to know the mode of inheritance of resistance and whether the same set of genes confer resistance to both species. We evaluated reactions to P. thornei and P. neglectus of glasshouse-inoculated plants of five doubled-haploid populations derived from five resistant synthetic hexpaloid wheat lines, each crossed to the susceptible Australian wheat cultivar Janz. For each cross we determined genetic variance, heritability and minimum number of effective resistance genes for each nematode species. Distributions of nematode numbers for both species were continuous for all doubled-haploid populations. Heritabilities were high and the resistances were controlled by 4-7 genes. There was no genetic correlation between resistance to P. thornei and to P. neglectus in four of the populations and a significant but low correlation in one. Therefore, resistances to P. thornei and to P. neglectus are probably inherited quantitatively and independently in four of these synthetic hexaploid wheat populations, with the possibility of at least one genetic factor contributing to resistance to both species in one of the populations. Parents with the greatest level of resistance will be the best to use as donor parents to adapted cultivars, and selection of resistance to both species in early generations will be optimal to carry resistance through successive cycles of inbreeding to produce resistant cultivars for release.

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The recent emergence of heritable high level resistance to phosphine in stored grain pests is a serious concern among major grain growing countries around the world. Here we describe the genetics of phosphine resistance in the rust red flour beetle Tribolium castaneum (Herbst), a pest of stored grain as well as a genetic model organism. We investigated three field collected strains of T. castaneum viz., susceptible (QTC4), weakly resistant (QTC1012) and strongly resistant (QTC931) to phosphine. The dose-mortality responses of their test- and inter-cross progeny revealed that most resistance was conferred by a single major resistance gene in the weakly (3.2x) resistant strain. This gene was also found in the strongly resistant (431x) strain, together with a second major resistance gene and additional minor factors. The second major gene by itself confers only 12-206x resistance, suggesting that a strong synergistic epistatic interaction between the genes is responsible for the high level of resistance (431x) observed in the strongly resistant strain. Phosphine resistance is not sex linked and is inherited as an incompletely recessive, autosomal trait. The analysis of the phenotypic fitness response of a population derived from a single pair inter-strain cross between the susceptible and strongly resistant strains indicated the changes in the level of response in the strong resistance phenotype; however this effect was not consistent and apparently masked by the genetic background of the weakly resistant strain. The results from this work will inform phosphine resistance management strategies and provide a basis for the identification of the resistance genes.

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The inheritance and fitness of phosphine resistance was investigated in an Australian strain of the rice weevil, Sitophilus oryzae (L.), as well as its prevalence in eastern Australia. This type of knowledge may provide insights in to the development of phosphine resistance in this species with the potential for better management. This strain was 12.2 × resistant at the LC50 level based on results for adults exposed for 20 h. Data from the testing of F1 adults from the reciprocal crosses (R♀ × S♂ and S♀ × R♂) showed that resistance was autosomal and inherited as an incompletely recessive trait with a degree of dominance of -0.88. The dose-response data for the F1 × S and F1 × R test crosses, and the F2 progeny were compared with predicted dose-response assuming monogenic recessive inheritance, and the results were consistent with resistance being conferred by one major gene. There was no evidence of fitness cost based on the frequency of susceptible phenotypes in hybridized populations that were reared for seven generations without exposure to phosphine. Lack of fitness cost suggests that resistant alleles will tend to persist in field populations that have undergone selection even if selection pressure is removed. Discriminating dose tests on 107 population samples collected from farms from 2006 to 2010 show that populations containing insects with the weak resistant phenotype are common in eastern Australia, although the frequency of resistant phenotypes within samples was typically low. The prevalence of resistance is a warning that this species has been subject to considerable selection pressure and that effective resistance management practices are needed to address this problem. Crown Copyright © 2014.

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Sitophilus oryzae (Linnaeus) is a major pest of stored grain across Southeast Asia and is of increasing concern in other regions due to the advent of strong resistance to phosphine, the fumigant used to protect stored grain from pest insects. We investigated the inheritance of genes controlling resistance to phosphine in a strongly resistant S. oryzae strain (NNSO7525) collected in Australia and find that the trait is autosomally inherited and incompletely recessive with a degree of dominance of -0.66. The strongly resistant strain has an LC50 52 times greater than a susceptible reference strain (LS2) and 9 times greater than a weakly resistant strain (QSO335). Analysis of F2 and backcross progeny indicates that two or more genes are responsible for strong resistance, and that one of these genes, designated Sorph1, not only contributes to strong resistance, but is also responsible for the weak resistance phenotype of strain QSO335. These results demonstrate that the genetic mechanism of phosphine resistance in Soryzae is similar to that of other stored product insect pests. A unique observation is that a subset of the progeny of an F1 backcross generation are more strongly resistant to phosphine than the parental strongly resistant strain, which may be caused by multiple alleles of one of the resistance genes.

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Background Epidemiological studies suggest a potential role for obesity and determinants of adult stature in prostate cancer risk and mortality, but the relationships described in the literature are complex. To address uncertainty over the causal nature of previous observational findings, we investigated associations of height- and adiposity-related genetic variants with prostate cancer risk and mortality. Methods We conducted a case–control study based on 20,848 prostate cancers and 20,214 controls of European ancestry from 22 studies in the PRACTICAL consortium. We constructed genetic risk scores that summed each man’s number of height and BMI increasing alleles across multiple single nucleotide polymorphisms robustly associated with each phenotype from published genome-wide association studies. Results The genetic risk scores explained 6.31 and 1.46 % of the variability in height and BMI, respectively. There was only weak evidence that genetic variants previously associated with increased BMI were associated with a lower prostate cancer risk (odds ratio per standard deviation increase in BMI genetic score 0.98; 95 % CI 0.96, 1.00; p = 0.07). Genetic variants associated with increased height were not associated with prostate cancer incidence (OR 0.99; 95 % CI 0.97, 1.01; p = 0.23), but were associated with an increase (OR 1.13; 95 % CI 1.08, 1.20) in prostate cancer mortality among low-grade disease (p heterogeneity, low vs. high grade <0.001). Genetic variants associated with increased BMI were associated with an increase (OR 1.08; 95 % CI 1.03, 1.14) in all-cause mortality among men with low-grade disease (p heterogeneity = 0.03). Conclusions We found little evidence of a substantial effect of genetically elevated height or BMI on prostate cancer risk, suggesting that previously reported observational associations may reflect common environmental determinants of height or BMI and prostate cancer risk. Genetically elevated height and BMI were associated with increased mortality (prostate cancer-specific and all-cause, respectively) in men with low-grade disease, a potentially informative but novel finding that requires replication.

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Common migraine, i.e. migraine with (MA) or without aura (MO), is a chronic neurological disorder affecting about 10% of the Caucasian population. In MA, migraine headache is preceded by visual, sensoric and/or dysphasic reversible aura symptoms. Twin and family studies have suggested a multifactorial mode of inheritance for common migraine, and a stronger genetic component for MA than for MO. Since there is no biological or genetic marker to identify common migraine, aura symptoms provide a distinctive character to identify those suspected of suffering from migraine. The aim of this study was to identify MA susceptibility loci in well-phenotyped migraine samples with familial predisposition using different gene mapping methods. Genes coding for endothelin1 and its receptors EDNRA and ENDRB are potential candidate genes for cortical spreading depression (CSD), which is considered to be the underlying mechanism of migraine aura. The role of these genes in MA was studied in 850 Finnish migraine cases and 890 control individuals. Rare homozygous EDNRA SNPs showed nominal association with MA and with the age of onset trait (20 years). This result was also detected in the pooled analysis on 648 German MA cases and 651 control individuals when the test was adjusted for gender and sample origin. Evaluation of SNP genotyping reactions with two different DNA polymerase enzymes ensured that the genotype quality was high, and thus the discovered associations are considered reliable. The role of the 19p13 region was studied in a linkage analysis of 72 Finnish MA families. This region contains two migraine-associated genes: CACNA1A, which is associated with a predisposition to a rare Mendelian form of MA, familial hemiplegic migraine (FHM), and the insulin receptor gene (INSR) that is associated with common migraine. No evidence of linkage between the 19p13 and MA was detected. A novel visual aura locus was mapped to chromosome 9q21-q22 with significant evidence of linkage using a genome-wide linkage approach in 36 Finnish MA families. Five additional, potential loci were also detected. The 9q21-q22 region has previously been linked to occipitotemporal lobe epilepsy and MA, both of which involve prominent visual symptoms. Our result further supports a shared background for these episodic disorders.

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A new evaluation of the elastic thickness (Te) structure of the Indian Shield, derived from isotropic fan wavelet methodology, documents spatial variations of lithospheric deformation in different tectonic provinces correlated with episodic tectono-thermal events. The Te variations corroborated by shear velocity, crustal thickness, and seismogenic thickness reveal the heterogeneous rheology of the Indian lithosphere. The thinned, attenuated lithosphere beneath Peninsular India is considered to be the reason for its mechanically weak strength (<30 km), where a decoupled crust-mantle rheology under different surface/subsurface loading structures may explain the prominent low Te patterns. The arcuate Te structure of the Western Dharwar province and a NNE-trending band of low Te anomaly in the Southern Granulite Terrane are intriguing patterns. The average Te values (40-50 km) of the Central Indian Tectonic Zone, the Bastar Craton, and the northern Eastern Ghats Mobile Belt are suggestive of old, stable, Indian lithosphere, which was not affected by any major tectono-thermal events after cratonic stabilization. We propose that the anomalously high Te (60-85 km) and high S-wave velocity zone to the north of the Narmada-Son Lineament, mainly in NW Himalaya, and the northern Aravalli and Bundelkhand Cratons, suggest that Archean lithosphere characterized by a high velocity mantle keel supports the orogenic topographic loads in/near the Himalaya. The Te map clearly segments the volcanic provinces of the Indian Shield, where the signatures of the Reunion, Marion, and Kerguelen hotspots are indicated by significantly low Te patterns that correlate with plume- and rift-related thermal and mechanical rejuvenation, magmatic underplating, and crustal necking. The correlations between Te variations and the occurrence of seismicity over seismically active zones reveal different causal relationships, which led to the current seismogenic zonation of the Indian Shield. (C) 2013 Elsevier B.V. All rights reserved.

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The function of plant genomes depends on chromatin marks such as the methylation of DNA and the post-translational modification of histones. Techniques for studying model plants such as Arabidopsis thaliana have enabled researchers to begin to uncover the pathways that establish and maintain chromatin modifications, and genomic studies are allowing the mapping of modifications such as DNA methylation on a genome-wide scale. Small RNAs seem to be important in determining the distribution of chromatin modifications, and RNA might also underlie the complex epigenetic interactions that occur between homologous sequences. Plants use these epigenetic silencing mechanisms extensively to control development and parent-of-origin imprinted gene expression.

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Background: A single case of paternal co-transmission ofmitochondrial DNA (mtDNA) in humans has been reported so far. Objective: To find potential instances of non-maternal inheritance of mtDNA. Methods: Published medical case studies (of single patients) were searched for irregular mtDNA patterns by comparing the given haplotype information for different clones or tissues with the worldwide mtDNA database as known to date-a method that has proved robust and reliable for the detection of flawed mtDNA sequence data. Results: More than 20 studies were found reporting clear cut instances with mtDNAs of different ancestries in single individuals. As examples, cases are reviewed from recent published reports which, at face value, may be taken as evidence for paternal inheritance of mtDNA or recombination. Conclusions: Multiple types (or recombinant types) of quite dissimilar mitochondrial DNA from different parts of the known mtDNA phylogeny are often reported in single individuals. From re-analyses and corrigenda of forensic mtDNA data, it is apparent that the phenomenon of mixed or mosaic mtDNA can be ascribed solely to contamination and sample mix up.

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Molluscan shells may display a variety of colors, which formation, inheritance, and evolutionary significance are not Well understood. Here we report a new variant of the Pacific abalone Haliotis discus hannai that displays a novel orange shell coloration (O-type) that is clearly distinguishable from the Wild green-shelled abalone (G-type). Controlled mating experiments between O- and G-type abalones demonstrated apparent Mendelian segregations (1:1 or 3:1) in shell colors in F-2 families, which support the notion that the O- and G-types are under strict genetic control at a single locus With a recessive o (for orange shell) allele and a dominant G (for green shell) allele. Feeding with different diets caused modifications of shell color within each genotype, ranging from orange to yellow for O-type and green to dark-brown for the G-type, without affecting the distinction between genotypes. A previously described bluish-purple (B-type) shell color was found in one of the putative oo X oG crosses, suggesting that the B-type may be it recessive allele belonging to the same locus. The new O-type variant had no effect on the growth of Pacific abalone on the early seed-stage. This Study demonstrates that shell color in Pacific abalone is subject to genetic control as well as dietary modification, and the latter probably offers selective advantages in camouflage and predator avoidance.

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Reproduction and chromosome inheritance in triploid Pacific oyster (Crassostrea gigas Thunberg) were studied in diploid female x triploid male (DT) and reciprocal (TD) crosses. Relative fecundity of triploid females was 13.4% of normal diploids. Cumulative survival from fertilized eggs to spat stage was 0.007% for DT crosses and 0.314% for TD crosses. Chromosome number analysis was conducted on surviving progeny from DT and TD crosses at 1 and 4 years of age. At Year 1, oysters from DT crosses consisted of 15% diploids (2n = 20) and 85% aneuploids. In contrast, oysters from TD crosses consisted of 57.2% diploids, 30.9% triploids (3n = 30) and only 11.9% aneuploids, suggesting that triploid females produced more euploid gametes and viable progeny than triploid males. Viable aneuploid chromosome numbers included 2n + 1, 2n + 2, 2n + 3, 3n - 2 and 3n - 1. There was little change over time in the overall frequency of diploids, triploids and aneuploids. Among aneuploids, oysters with 2n + 3 and 3n-2 chromosomes were observed at Year 1, but absent at Year 4. Triploid progeny were significantly larger than diploids by 79% in whole body weight and 98% in meat weight at 4 years of age. Aneuploids were significantly smaller than normal diploids. This study suggests that triploid Pacific oyster is not completely sterile and cannot offer complete containment of cultured populations.

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This paper describes a theory of inheritance theories. We present an original theory of inheritance in nonmonotonic hierarchies. The structures on which this theory is based delineate a framework that subsumes most inheritance theories in the literature, providing a new foundation for inheritance. * Our path-based theory is sound and complete w.r.t. a direct model-theoretic semantics. * Both the credulous and the skeptical conclusions of this theory are polynomial-time computable. * We prove that true skeptical inheritance is not contained in the language of path-based inheritance. Because our techniques are modular w.r.t. the definition of specificity, they generalize to provide a unified framework for a broad class of inheritance theories. By describing multiple inheritance theories in the same "language" of credulous extensions, we make principled comparisons rather than the ad-hoc examination of specific examples makes up most of the comparative inheritance work.