Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are considerable challenges with respect to study design, data analysis and replication. Using pooled next-generation sequencing of 507 genes implicated in the repair of DNA in 1,150 samples, an analytical strategy focused on protein-truncating variants (PTVs) and a large-scale sequencing case-control replication experiment in 13,642 individuals, here we show that rare PTVs in the p53-inducible protein phosphatase PPM1D are associated with predisposition to breast cancer and ovarian cancer. PPM1D PTV mutations were present in 25 out of 7,781 cases versus 1 out of 5,861 controls (P = 1.12 × 10-5), including 18 mutations in 6,912 individuals with breast cancer (P = 2.42 × 10-4) and 12 mutations in 1,121 individuals with ovarian cancer (P = 3.10 × 10-9). Notably, all of the identified PPM1D PTVs were mosaic in lymphocyte DNA and clustered within a 370-base-pair region in the final exon of the gene, carboxy-terminal to the phosphatase catalytic domain. Functional studies demonstrate that the mutations result in enhanced suppression of p53 in response to ionizing radiation exposure, suggesting that the mutant alleles encode hyperactive PPM1D isoforms. Thus, although the mutations cause premature protein truncation, they do not result in the simple loss-of-function effect typically associated with this class of variant, but instead probably have a gain-of-function effect. Our results have implications for the detection and management of breast and ovarian cancer risk. More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification.

Crop Classification using Biologically-inspired Techniques with High Resolution Satellite Image

Remote sensing provides a lucid and effective means for crop coverage identification. Crop coverage identification is a very important technique, as it provides vital information on the type and extent of crop cultivated in a particular area. This information has immense potential in the planning for further cultivation activities and for optimal usage of the available fertile land. As the frontiers of space technology advance, the knowledge derived from the satellite data has also grown in sophistication. Further, image classification forms the core of the solution to the crop coverage identification problem. No single classifier can prove to satisfactorily classify all the basic crop cover mapping problems of a cultivated region. We present in this paper the experimental results of multiple classification techniques for the problem of crop cover mapping of a cultivated region. A detailed comparison of the algorithms inspired by social behaviour of insects and conventional statistical method for crop classification is presented in this paper. These include the Maximum Likelihood Classifier (MLC), Particle Swarm Optimisation (PSO) and Ant Colony Optimisation (ACO) techniques. The high resolution satellite image has been used for the experiments.

Similarities in the Genomic Sequence and Coat Protein-Structure of Plant Viruses

The genomic sequences of several RNA plant viruses including cucumber mosaic virus, brome mosaic virus, alfalfa mosaic virus and tobacco mosaic virus have become available recently. The former two viruses are icosahedral while the latter two are bullet and rod shaped, respectively in particle morphology. The non-structural 3a proteins of cucumber mosaic virus and brome mosaic virus have an amino acid sequence homology of 35% and hence are evolutionarily related. In contrast, the coat proteins exhibit little homology, although the circular dichroism spectrum of these viruses are similar. The non-coding regions of the genome also exhibit variable but extensive homology. Comparison of the brome mosaic virus and alfalfa mosaic virus sequences reveals that they are probably related although with a much larger evolutionary distance. The polypeptide folds of the coat protein of three biologically distinct isometric plant viruses, tomato bushy stunt virus, southern bean mosaic virus and satellite tobacco necrosis virus have been shown to display a striking resemblance. All of them consist of a topologically similar 8-standard β-barrel. The implications of these studies to the understanding of the evolution of plant viruses will be discussed.

First report of phytoplasma disease in capsicum, celery and chicory in Queensland, Australia

Tomato big bud phytoplasma (16SrII-E group), a widely distributed phytoplasma in Australia, was detected in celery, capsicum and chicory plants from southern Queensland, Australia in February 2002.

Genetic Options for Drought Management in Groundnut

Groundnut is one of the principal oilseeds in the world. It is cultivated on 24.8 million ha with a total production of 32.8 million t and an average productivity of 1.32 t ha-'. Developing countries account for 96.9% of the world groundnut area and 93.8% of total production. Production is concentrated in Asia (56.8% area and 66.5% production of the world) and Africa (38.0% area and 24.7% production). The groundnut productivity in Africa is only 0.86 t ha-' compared with 1.55 t hx1 of Asia. The world groundnut economy-facts, trends and outlook are desaibed in detail by Freeman et al., 1999. Briefly, in medium-term (i.e. up to 2010), 'groundnut production and consumption is likely to shift increasingly to developing countries; production will grow in all regions but most rapidly in Asia, slowly in sub-Saharan Africa and decline in Latin America; and utilizationwill continue to shift away from groundnut oil toward groundnut meal, specially confectionery products'.

CLXXX. Vegetable Proteins. I. The Proteins of Dolichos Lab Lab

The field bean (Dolichos lab lab ; Tamil name, Mochai ; Kanarese, Avarai) is a legume which is widely cultivated in South India often as a mixed crop with cereals. The kernel of the seed enters into the diet of may South Indian households, and in the Mysore State the seed are used as a delicacy when they are green for over four months in the year. The haulm, husk and pods are commonly used a fodder. As the kernel which is widely used as an article of food and considered to be very nutritious, contains about 24% of protein hitherto uninvestigated and as the quality of protein plays an important role in nutrition, the present work was undertaken.

Transcriptional regulation of a pineapple polyphenol oxidase gene and its relationship to blackheart.

Two genes encoding polyphenol oxidase (PPO) were isolated from pineapple (Ananas comosus[L.] Merr. cv. Smooth Cayenne). Sequence analyses showed that both contained a single intron and encoded typical chloroplast-localized PPO proteins, the sequences of which corresponded to two pineapple PPO cDNAs, PINPPO1 and PINPPO2, recently described by Stewart et al. (2001). Southern blot analyses suggested that pineapple contained only two PPO genes. Analysis of expression of PINPPO1 promoter GUS fusion constructs showed this promoter had a low basal activity and was cold- and wound-inducible, consistent with known mRNA expression profiles. Striking homologies to gibberellin response complexes (GARC) were observed in sequences of both the PINPPO1 and PINPPO2 promoters. Transient assays in mature pineapple fruit and stable expression in transgenic tobacco showed that PINPPO1 promoter-GUS fusions were indeed gibberellin (GA) responsive. A role for the element within the putative GARCs in mediating GA-responsiveness of the PINPPO1 promoter was confirmed by mutational analysis. PINPPO2 was also shown to be GA-responsive by RT-PCR analysis. Mutant PINPPO1 promoter-GUS fusion constructs, which were no longer GA-inducible, showed a delayed response to cold induction in pineapple fruit in transient assays, suggesting a role for GA in blackheart development. This was supported by observations that exogenous GA3 treatment induced blackheart in the absence of chilling. Sequences showing homology to GARCs are also present in some PPO promoters in tomato, suggesting that GA regulates PPO expression in diverse species.

First record of Nematospora coryli in Australia and its association with dry rot of Citrus

Nematospora (Eremothecium) coryli was isolated from Citrus and identified for the first time in Australia. This insect-transmitted yeast was associated with dry rot in cultivated and native Citrus fruits. Although N. coryli is known as a serious seed pathogen of many tropical and sub-tropical plants, evidence is presented that it has been present and undetected in Queensland for at least ninety years.

Host range, symptom expression and RNA 3 sequence analyses of six Australian strains of Cucumber mosaic virus

We have characterised six Australian Cucumber mosaic virus (CMV) strains belonging to different subgroups, determined by the sequence of their complete RNA 3 and by their host range and the symptoms they cause on species in the Solanaceae, Cucurbitaceae and on sweet corn. These data allowed classification of strains into the known three CMV subgroups and identification of plant species able to differentiate the Australian strains by symptoms and host range. Western Australian strains 237 and Twa and Queensland strains 207 and 242 are closely related members of CMV subgroup IA, which cause similar severe symptoms on Nicotiana species. Strains 207 and 237 (subgroup IA) were the only strains tested which systemically infected sweet corn. Strain 243 caused the most severe symptoms of all strains on Nicotiana species, tomato and capsicum and appears to be the first confirmed subgroup IB strain reported in Australia. Based on pair-wise distance analysis and phylogeny of RNA 3, as well as mild disease symptoms on Nicotiana species, CMV 241 was assigned to subgroup II, as the previously described Q-CMV and LY-CMV.

Concentration of pineapple juice by reverse osmosis

Queensland pineapple production for the year ending 31 March, 1986, was 142000 t (ABS 1988). Pineapple juice provides the major processing outlet, accounting for about 70% of the State's fruit juice output. Most juice is concentrated by vacuum evaportion to reduce storage and transport costs. In recent years, reverse osmosis (R.O.) has found increasing application for concentrating food liquids, particularly dairy products (Schmidt, 1987). Advantages include lower energy consumption and better product quality retention. There have been a number of publications on fruit juice concentration by R.O. These have included apple juice (Sheu and Wiley 1984; Chua et al 1987; Paulson 1985), orange juice (Papanicolaou et al 1984), mandarin juice (Fukutani and Ogawa 1983, tomato juice (Robe 1983; Watanabe 1982; Gheradi et al 1986), grapefruit and lemon juices (Braddock et al 1988). However, information on pineapple juice concentration by R.O. is lacking. The aim of this research was to measure the effects of juice pre-treatment, operating temperature, membrane type, flow rate, pressure and degree of concentration on pineapple juice R.O.

Sediment and nutrient losses from exotic Pinus plantation management operations under simulated rainfall

Rainfall simulation experiments were carried out to measure runoff and soil water fluxes of suspended solids, total nitrogen, total phosphorus, dissolved organic carbon and total iron from sites in Pinus plantations on the coastal lowlands of south-eastern Queensland subjected to various operations (treatments). The operations investigated were cultivated and nil-cultivated site preparation, fertilised site preparation, clearfall harvesting and prescribed burning; these treatments were compared with an 8-y-old established plantation. Flow-weighted mean concentrations of total nitrogen and total phosphorus in surface runoff from the cultivated and nil-cultivated site-preparation, clearfall harvest, prescribed burning and 8-y-old established plantation treatments were very similar. However, both the soil water and the runoff from the fertilised site preparation treatment contained more nitrogen (N) and phosphorus (P) than the other treatments - with 3.10 mg N L-1 and 4.32 mg P L-1 (4 and 20 times more) in the runoff. Dissolved organic carbon concentrations in runoff from the nil-cultivated site-preparation and prescribed burn treatments were elevated. Iron concentrations were highest in runoff from the nil-cultivated site-preparation and 8-y-old established plantation treatments. Concentrations of suspended solids in runoff were higher from cultivated site preparation and prescribed burn treatments, and reflect the great disturbance of surface soil at these sites. The concentrations of all analytes were highest in initial runoff from plots, and generally decreased with time. Total nitrogen (mean 7.28, range 0.11-13.27 mg L-1) and total phosphorus (mean 11.60, range 0.06-83.99 mg L-1) concentrations in soil water were between 2 and 10 times greater than in surface runoff, which highlights the potential for nutrient fluxes in interflow (i.e. in the soil above the water table) through the general plantation area. Implications in regard to forest management are discussed, along with results of larger catchment-scale studies.

Heterologous signals allow efficient targeting of a nuclear-encoded fusion protein to plastids and endoplasmic reticulum in diverse plant species

Approximately 30% of plant nuclear genes appear to encode proteins targeted to the plastids or endoplasmic reticulum (ER). The signals that direct proteins into these compartments are diverse in sequence, but, on the basis of a limited number of tests in heterologous systems, they appear to be functionally conserved across species. To further test the generality of this conclusion, we tested the ability of two plastid transit peptides and an ER signal peptide to target green fluorescent protein (GFP) in 12 crops, including three monocots (barley, sugarcane, wheat) and nine dicots (Arabidopsis, broccoli, cabbage, carrot, cauliflower, lettuce, radish, tobacco, turnip). In all species, transient assays following microprojectile bombardment or vacuum infiltration using Agrobacterium showed that the plastid transit peptides from tomato DCL (defective chloroplast and leaves) and tobacco RbcS [ribulose bisphosphate carboxylase (Rubisco) small subunit] genes were effective in targeting GFP to the leaf plastids. GFP engineered as a fusion to the N-terminal ER signal peptide from Arabidopsis basic chitinase and a C-terminal HDEL signal for protein retention in the ER was accumulated in the ER of all species. The results in tobacco were confirmed in stably transformed cells. These signal sequences should be useful to direct proteins to the plastid stroma or ER lumen in diverse plant species of biotechnological interest for the accumulation of particular recombinant proteins or for the modification of particular metabolic streams.

Domestication to crop improvement: Genetic resources for Sorghum and Saccharum (Andropogoneae).

Background: Both sorghum (Sorghum bicolor) and sugarcane (Saccharum officinarum) are members of the Andropogoneae tribe in the Poaceae and are each other's closest relatives amongst cultivated plants. Both are relatively recent domesticates and comparatively little of the genetic potential of these taxa and their wild relatives has been captured by breeding programmes to date. This review assesses the genetic gains made by plant breeders since domestication and the progress in the characterization of genetic resources and their utilization in crop improvement for these two related species. Genetic Resources: The genome of sorghum has recently been sequenced providing a great boost to our knowledge of the evolution of grass genomes and the wealth of diversity within S. bicolor taxa. Molecular analysis of the Sorghum genus has identified close relatives of S. bicolor with novel traits, endosperm structure and composition that may be used to expand the cultivated gene pool. Mutant populations (including TILLING populations) provide a useful addition to genetic resources for this species. Sugarcane is a complex polyploid with a large and variable number of copies of each gene. The wild relatives of sugarcane represent a reservoir of genetic diversity for use in sugarcane improvement. Techniques for quantitative molecular analysis of gene or allele copy number in this genetically complex crop have been developed. SNP discovery and mapping in sugarcane has been advanced by the development of high-throughput techniques for ecoTILLING in sugarcane. Genetic linkage maps of the sugarcane genome are being improved for use in breeding selection. The improvement of both sorghum and sugarcane will be accelerated by the incorporation of more diverse germplasm into the domesticated gene pools using molecular tools and the improved knowledge of these genomes.

Tospoviruses - An Australian perspective

The detection, distribution, molecular and biological properties, vector relations and control of tospoviruses present in Australia, including Tomato spotted wilt virus (TSWV), Capsicum chlorosis virus (CaCV) and Iris yellow spot virus (IYSV), are reviewed. TSWV occurs throughout Australia where it has caused serious sporadic epidemics since it was first described in the 1920s. The frequency and distribution of outbreaks has increased in the 1990s, with the arrival and dispersal of the western flower thrips (Frankliniella occidentalis) being one factor favouring this situation. The crops most frequently and severely affected are capsicum, lettuce, tomato, potato and several species of ornamentals. Minimal differences were found between the nucleocapsid (N) gene amino acid sequences of Australian isolates and these were most closely related to a clade of northern European isolates. CaCV was first detected in Australia in 1999 and is most closely related to Watermelon silver mottle virus, a serogroup IV tospovirus. The natural hosts include capsicum, tomato, peanut and Hoya spp. The virus also occurs in Thailand and Taiwan. IYSV was first found in Australia in 2003, infecting onion and leek, with the distribution in three States suggesting that the virus has been present for some time.

Naiset rajalla : Kyöpeli, Nainen, Naara(s), Neitsyt, Morsian, Akka ja Ämmä Suomen paikannimissä

Women at the boundary. Kyöpeli ( ghost, devil, elf, fairy, enchantress, witch ), Nainen ( woman ), Naara(s) ( female animal, derogatory term for a woman ), Neitsyt ( young, [virgin] woman ), Morsian ( bride ), Akka ( old woman, wife, grandmother ) and Ämmä ( [old] woman, wife, grandmother ) in Finnish place names This study examines a total of about 4,000 Finnish place names which include a specific that refers to a woman: Kyöpeli, Nainen, Naara(s), Neitsyt, Morsian, Akka or Ämmä. The study has two main objectives. First, to interpret the place names in the data, that is, to examine the words included in the data and establish their background and to differentiate names of different ages. In establishing the background of a name, the type of place (e.g. lake, hill or marsh) and its location, as well as the semantics of the feminine specific, are taken into account. The connotations of words referring to a woman are also studied. Words that refer to a woman are often affective and susceptible to changes in meaning, which is reflected in the history of place names. The second main objective is to recognise and highlight mythological place names. Mythology is pivotal for the interpretation of many place names with a feminine specific. The criteria for mythological names have not been explicitly discussed in Finnish onomastics until now, and I seek to determine such criteria in this study with the help of the data. Mythological place names often refer to large and significant natural localities, which are in many cases important boundaries for the community. Names for smaller localities may also be mythological if they refer to a place with a key location or a special topography (e.g. steep or rocky places). I also discuss the stories involved with specific places in the data, such as stories about supernatural beings. Each of the name groups discussed in the study has its own profile. For example, Naara(s) names are so old that naara is no longer understood to refer to a woman. These names have thus often been misinterpreted in onomastics. Names beginning with Morsian, on the other hand, appear to be of fairly recent origin and may be attributed to an international cautionary tale. Names beginning with Nais, Neitsyt, Akka and Ämmä highlight the duality of the data. They include both old names for important natural localities or boundaries and more recent names for modest dwellings, small cultivated areas and useless marshy ponds. This distribution of place names may reflect a cultural shift that changed the status of women in the community.