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Rust, caused by Puccinia dracunculina, is the main foliar disease of open-field tarragon ( Artemisia dracunculus) crops in Israel. As not much is known about the biology or epidemiology of this pathogen, the long-term objective of the current study was to accumulate the knowledge needed to develop an effective, environmentally friendly means of adequately managing the disease. Puccinia dracunculina is an autoecious brachy-form pathogen, but it is not known whether the life cycle is completed under field conditions in Israel. Field observations and greenhouse studies revealed that although the telial stage is produced, the pathogen overwinters in the uredinial stage. In vitro experiments were used to quantify the temperature and wetness requirements for urediniospore germination and to calculate the daily duration of conducive weather ( DDCW); DDCW was defined as the number of hours during which temperature ranged between 15 and 25°C and RH was >90%. Cumulative DDCW values ( CDDCW) were a good predictor of disease under natural conditions in two growing seasons. Disease onset occurred when CDDCW values reached a level of 10 and the relationship between log CDDCW values and season-long severity values (in logit) was highly significant, explaining 90·6% of the variation. [ABSTRACT FROM AUTHOR]

Nuclear DNA amount, determined by the flow cytometry method, in diploids, natural and synthetic allopolyploids, and natural and synthetic autopolyploids of the tribe Triticeae (Poaceae) is reviewed here and discussed. In contrast to the very small and nonsignificant variation in nuclear DNA amount that was found at the intraspecific level, the variation at the interspecific level is very large. Evidently changes in genome size are either the cause or the result of speciation. Typical autopolyploids had the expected additive DNA amount of their diploid parents, whereas natural and synthetic cytologically diploidized autopolyploids and natural and synthetic allopolyploids had significantly less DNA than the sum of their parents. Thus, genome downsizing, occurring during or immediately after the formation of these polyploids, provides the physical basis for their cytological diploidization, that is, diploid-like meiotic behavior. Possible mechanisms that are involved in genome downsizing and the biological significance of this phenomenon are discussed. [ABSTRACT FROM AUTHOR]

Nuclear DNA amount (1C) was determined by flow cytometry in the autotetraploid cytotype of Hordeum bulbosum, in the cytologically diploidized autotetraploid cytotypes of Elymus elongatus, Hordeum murinum subsp. murinum and Hordeum murinum subsp. leporinum, in Hordeum marinum subsp. gussoneanum, in their progenitor diploid cytotypes, and in a newly synthesized autotetraploid line of E. elongatus. Several lines collected from different regions of the distribution area of every taxon, each represented by a number of plants, were analyzed in each taxon. The intracytotype variation in nuclear DNA amount of every diploid and autotetraploid cytotype was very small, indicating that no significant changes have occurred in DNA amount either after speciation or after autopolyploid formation. The autotetraploid cytotypes of H. bulbosum and the cytologically diploidized H. marinum subsp. gussoneanum had the expected additive amount of their diploid cytotypes. On the other hand, the cytologically diploidized autotetraploid cytotypes of E. elongatus and H. murinum subsp. murinum and H. murinum subsp. leporinum had considerably less nuclear DNA (10%-23%) than the expected additive value. Also, the newly synthesized autotetraploid line of E. elongatus showed similar reduction in DNA as its natural counterpart, indicating that the reduction in genome size occurred in the natural cytotype during autopolyploidization. It is suggested that the diploid-like meiotic behavior of these cytologically dipolidized autotetraploids is caused by the instantaneous elimination of a large number of DNA sequences, different sequences from different homologous pairs, leading to differentiation of the constituent genomes. The eliminated sequences are likely to include those that participate in homologous recognition and initiation of meiotic pairing. A gene system determining exclusive bivalent pairing by utilizing the differentiation between the two groups of homologues has been presumably superimposed on the DNA reduction process. Le contenu en ADN nucléaire (1C) a été déterminé par cytométrie en flux chez les cytotypes suivants : le cytotype autotétraploïde de l&x2019;Hordeum bulbosum, les cytotypes autotétraploïdes diploïdisés (formant principalement des bivalents) de l&x2019;Elymus elongatus, des Hordeum murimum subsp. murinum et Hordeum murimum subsp. leporinum, des Hordeum marinum subsp. gussoneanum, les cytotypes diploïdes des espèces progénitrices et d&x2019;un E. elongatus autotétraploïde nouvellement synthétisé. Plusieurs lignées provenant des différentes régions de l&x2019;aire de distribution de ces taxons, chacune représentée par plusieurs plantes, ont été analysées pour chaque taxon. La variation pour le contenu en ADN nucléaire au sein d&x2019;un cytotype était très faible chez tous les cytotypes diploïdes et autotétraploïdes, indiquant qu&x2019;aucun changement important n&x2019;était survenu après la spéciation ou la formation d&x2019;un autopolyploïde. Les cytotypes autotétraploïdes de l&x2019;H. bulbosum et de l&x2019;H. marinum subsp. gussoneanum diploïdisé présentaient la quantité attendue suite à l&x2019;addition des cytotypes diploïdes. Par contre, les cytotypes diploïdisés de l&x2019;E. elongatus et des H. murinum subsp. murinum et H. murium subsp. leporinum avaient un contenu en ADN nucléaire nettement moins grand (de 10% à 23% moins) que la somme attendue. De plus, la lignée autotétraploïde nouvellement synthétisée de l&x2019;E. elongatus a affiché une réduction semblable à celle observée chez son pendant naturel ce qui indique que la réduction de la taille du génome serait survenue lors de l&x2019;autopolyploïdisation chez le cytotype naturel. Les auteurs suggèrent que le comportement méiotique de type diploïde chez les autotétraploïdes diploïdisés est causé par une élimination instantanée d&x2019;un grand nombre de séquences, diverses séquences chez différentes paires de chromosomes homologues, menant ainsi à la différenciation des génomes constitutifs. Il est probable que l&x2019;on compte parmi les séquences éliminées celles qui participent à la reconnaissance des homologues à l&x2019;initiation de l&x2019;appariement méiotique. Un système génétique entraînant un appariement exclusivement sous forme de bivalents moyennant la différenciation des deux groupes d&x2019;homologues se seraient vraisemblablement superposée au processus de réduction de la taille du génome. [ABSTRACT FROM AUTHOR]

Recent molecular studies in the genera Aegilops and Triticum showed that allopolyploidization (interspecific or intergeneric hybridization followed by chromosome doubling) generated rapid elimination of low-copy or high-copy, non-coding and coding DNA sequences. The aims of this work were to determine the amount of nuclear DNA in allopolyploid species of the group and to see to what extent elimination of DNA sequences affected genome size. Nuclear DNA amount was determined by the flow cytometry method in 27 natural allopolyploid species (most of which were represented by several lines and each line by several plants) as well as 14 newly synthesized allopolyploids (each represented by several plants) and their parental plants. Very small intraspecific variation in DNA amount was found between lines of allopolyploid species collected from different habitats or between wild and domesticated forms of allopolyploid wheat. In contrast to the constancy in nuclear DNA amount at the intraspecific level, there are significant differences in genome size between the various allopolyploid species, at both the tetraploid and hexaploid levels. In most allopolyploids nuclear DNA amount was significantly less than the sum of DNA amounts of the parental species. Newly synthesized allopolyploids exhibited a similar decrease in nuclear DNA amount in the first generation, indicating that genome downsizing occurs during and (or) immediately after the formation of the allopolyploids and that there are no further changes in genome size during the life of the allopolyploids. Phylogenetic considerations of the origin of the B genome of allopolyploid wheat, based on nuclear DNA amount, are discussed. De récentes études moléculaires chez les genres Aegilops et Triticum ont montré que l’allopolyploïdisation (une hybridation interspécifique ou intergénérique suivie d’un doublement chromosomique) entraîne l’élimination rapide de séquences d’ADN à faible ou grand nombre de copies, non-codantes autant que codantes. Les objectifs de ce travail étaient de mesurer la quantité d’ADN nucléaire chez des espèces allopolyploïdes du groupe et de vérifier dans quelle mesure l’élimination de séquences d’ADN avait affecté la taille du génome. La quantification de l’ADN nucléaire a été effectuée par cytométrie en flux chez 27 allopolyploïdes naturels (la plupart étant représentée par plusieurs lignées et chaque lignée par plusieurs plantes), chez 14 allopolyploïdes nouvellement synthétisés (chacun représenté par plusieurs plantes) et chez leurs parents. Une très faible variation intraspécifique a été observée entre les lignées des espèces allopolyploïdes provenant de différents habitats de même qu’entre les formes sauvages et domestiquées du blé allopolyploïde. Contrairement à la constance observée au niveau intraspécifique, des différences significatives quant à la taille du génome ont été observées entre les diverses espèces allopolyploïdes, tant au niveau tétraploïde qu’hexaploïde. Chez la plupart des allopolyploïdes, la quantité d’ADN nucléaire était significativement inférieure à la somme des espèces parentales. Les allopolyploïdes nouvellement synthétisés affichaient de semblables réductions de leur ADN nucléaire dès les premières générations suivant leur formation, ce qui indique que la réduction de la taille du génome se produit durant ou immédiatement après la formation d’un allopolyploïde. Les auteurs discutent de l’origine du génome B chez le blé allopolyploïde à la lumière de la quantité d’ADN nucléaire. [ABSTRACT FROM AUTHOR]

One of the intriguing issues concerning the dynamics of plant genomes is the occurrence of intraspecific variation in nuclear DNA amount. The aim of this work was to assess the ranges of intraspecific, interspecific, and intergeneric variation in nuclear DNA content of diploid species of the tribe Triticeae (Poaceae) and to examine the relation between life form or habitat and genome size. Altogether, 438 plants representing 272 lines that belong to 22 species were analyzed. Nuclear DNA content was estimated by flow cytometry. Very small intraspecific variation in DNA amount was found between lines of Triticeae diploid species collected from different habitats or between different morphs. In contrast to the constancy in nuclear DNA amount at the intraspecific level, there are significant differences in genome size between the various diploid species. Within the genus Aegilops, the 1C DNA amount ranged from 4.84 pg in A. caudata to 7.52 pg in A. sharonensis; among genera, the 1C DNA amount ranged from 4.18 pg in Heteranthelium piliferum to 9.45 pg in Secale montanum. No evidence was found for a smaller genome size in annual, self-pollinating species relative to perennial, cross-pollinating ones. Diploids that grow in the southern part of the group’s distribution have larger genomes than those growing in other parts of the distribution. The contrast between the low variation at the intraspecific level and the high variation at the interspecific one suggests that changes in genome size originated in close temporal proximity to the speciation event, i.e., before, during, or immediately after it. The possible effects of sudden changes in genome size on speciation processes are discussed. La variation intraspécifique du contenu en ADN nucléaire représente une des questions intrigantes en matière de dynamique des génomes végétaux. Le but de ce travail était de mesurer l’étendue de la variation du contenu en ADN nucléaire aux niveaux intraspécifique, interspécifique et intergénérique chez les espèces diploïdes de la tribu des triticées et d’examiner la relation entre la morphologie ou l’habitat et la taille du génome. Au total, 438 plantes représentant 272 lignées appartenant à 22 espèces ont été analysées. Le contenu en ADN nucléaire a été estimé par cytométrie en flux. Une très faible variation intraspécifique a été observée entre les lignées des espèces diploïdes de triticées ayant des morphologies ou des habitats différents. Contrairement à la constance observée pour le contenu en ADN nucléaire au niveau intraspécifique, des différences significatives ont été observées entre les diverses espèces diploïdes. Le contenu 1C au sein du genre Aegilops variait entre 4,84 pg, chez l’A. caudata, et 7,52 pg chez l’A. sharonensis tandis qu’au niveau intergénérique il variait entre 4,18 pg chez l’Heterantheliumpiliferum et 9,45 pg chez le Secale montanum. Aucune évidence n’a été observée d’un génome plus petit chez les espèces annuelles autofécondées que chez les espèces pérennes allofécondées. Les espèces diploïdes poussant dans la portion méridionale de l’aire de distribution avaient des génomes plus grands que les espèces poussant dans les autres régions de l’aire de distribution. Le contraste d’une faible variation intraspécifique et d’une grande variation interspécifique suggère que les changements dans la taille des génomes seraient survenus quasi-simultanément avec la spéciation, c’est-à-dire avant, durant, ou immédiatement après celle-ci. Les effets possibles de changements soudains dans la taille du génome sur les processus de spéciation sont discutés. [ABSTRACT FROM AUTHOR]

Digital image analysis was used to measure dimensions of spores produced by Puccinia coronata, P. graminis, P. hordei, P. recondita, P. striiformis and P. triticina. Included were teliospores, basidiospores, urediniospores and, except for P. striiformis, pycniospores and aeciospores. Length, width and projection area of spores were measured with NIH Image or Scion software. By using limits on size, spores were automatically selected and measured, except for teliospores, which required manual elimination of the pedicel and separation of images of adhering spores. Length and width were determined as the major and minor axes of the best fitting ellipse for each spore. This procedure gave values for length and width close to results obtained with an ocular micrometer. Projection area was determined as the number of pixels within spore boundaries multiplied by the area represented by each pixel, giving values that are not feasible to obtain accurately with an ocular micrometer. Of the species studied, spores of P. recondita had the largest dimensions, P. triticina had the smallest. The rank of the six species based on increasing width, length or projection area was almost the same, using each spore type except pycniospores. Generally, differences of 5% in a given spore dimension between two species were significant. Differences between species were greater with basidiospores and aeciospores than with other spore types. Teliospores were unique in that length and width were negatively correlated, resulting in less variation in area than in length or width. The results indicate that image analysis is useful for measuring spore dimensions, that projection area of spores is a useful added parameter for characterizing rust species and that dimensions of teliospores, basidiospores, aeciospores and urediniospores each are potentially useful for differentiating species. [ABSTRACT FROM AUTHOR]

In all, 1,323 single plant accessions of Aegilops bicornis, A. kotschyi, A. longissima, A. ovata, A. searsii, A. sharonensis, A. speltoides, and A. variabilis collected from 18 regions in Israel and 2 adjacent regions in Lebanon and Egypt were evaluated for leaf rust (Puccinia triticina) and stripe rust (P. striiformis) resistance in field plots and for seedling resistance to leaf rust and stem rust (P. graminis f. sp. tritici) in greenhouse tests. Nearly all accessions of A. speltoides were highly resistant to leaf rust, stripe rust, and stem rust, A. Iongissima and A. ovata were highly resistant to stripe rust, whereas A. bicornis and A. kotschyi were highly susceptible. A. searsii was highly susceptible to stem rust, but 24 to 51% of accessions of A. bicornis, A. longissima, A. ovata, and A. variabilis were resistant to stem rust. Except for A. ovata and A. speltoides, more than 95% of the Aegilops accessions were susceptible to leaf rust caused by P. recondita alternating on Anchusa spp. Only Aegilops ovata was susceptible to P. recondita from Echium spp. A. bicornis, A. koschyi, and A. searsii were highly susceptible as seedlings to common wheat leaf rust caused by P. triticina. Most accessions of A. variabilis and about half of the accessions of A. Iongissima had good seedling resistance to P. triticina. Few accessions of A. ovata showed seedling resistance to the P. triticina population in Israel, but 30% were resistant to U.S. isolates. In field tests, A. bicornis showed high susceptibility to common wheat leaf rust, but more than 90% of the accessions of the other Aegilops spp. developed little or no leaf rust on adult plants. The Aegilops spp. in Israel and adjoining countries provide a rich and varied source of rust resistance for wheat breeding. [ABSTRACT FROM AUTHOR]

Isolates of Puccinia coronata obtained from natural populations of Avena sterilis in Israel, winter oat (A. sativa) cultivars in Texas, and spring oat cultivars in the Northern Plains states of Minnesota, North Dakota, and South Dakota were analyzed for significance of pairwise virulence associations. Isolates from all three regions were tested on 25 oat lines with single P. coronata (Pc) genes for crown rust resistance from A. sterilis and one line with a Pc gene from A. sativa. Isolates from Israel were tested also on 11 Iowa backcross lines with undesignated crown rust resistance genes from A. sterilis. Four associated virulence groups were identified from significant positive virulence associations that were consistent across all three regions. Group 38 included virulence to Pc-38, Pc-39, Pc-55, Pc-63, and Pc-71; group 45 included virulence to Pc-45, Pc-46, Pc-48, Pc-52, Pc-54, and Pc-57; group 58 included virulence to Pc-35, Pc-40, Pc-58, and Pc-59; and group 61 included virulence to Pc- 36, Pc-51, Pc-56, Pc-60, and Pc-61. Virulence to Pc- 70 showed the strongest association to virulences in group 38 but also showed significant association with virulence to Pc-45, Pc-35, and Pc-58. Virulences in group 61 were consistently negatively associated with virulences in group 38 in each region. In Israel, virulences to five of the Iowa lines showed positive associations to virulences in group 61 and negative associations to virulences in groups 38 and 45. Close similarity of reactions of nearly all isolates to Pc-39, Pc-55, and Pc-71 suggest that these genes may be identical or nearly identical alleles. [ABSTRACT FROM AUTHOR]

A total of 742 single plant accessions of Triticum dicoccoides were collected from 26 locations in Israel. All accessions were evaluated for leaf rust (Puccinia triticina) resistance in field plots at Tel Aviv, and subsets of 284 and 468 accessions were tested in the greenhouse in Tel Aviv and St. Paul, MN, respectively, for seedling resistance to leaf rust; 460 accessions were also tested for seedling resistance to stem rust (Puccinia graminis f. sp. tritici) in St. Paul. One accession was highly resistant to leaf rust in seedling tests in Tel Aviv, and 21 others had moderately susceptible to moderately resistant seedling resistance. Four accessions were highly resistant to leaf rust in seedling tests in St. Paul, and 11 were resistant to at least one stem rust race. Adult resistance to leaf rust was more common than seedling resistance among the accessions; 21 accessions had less than 25% leaf rust severity in field plots compared with 80 to 90% severity for highly susceptible accessions. Most of the accessions with effective adult plant resistance came from two nearby locations in Upper Galilee, a region where populations of T dicoccoides are most extensive and genetically diverse. These accessions may provide valuable new partial resistance genes for durable protection against leaf rust in cultivated wheat. [ABSTRACT FROM AUTHOR]

In the late 1990s, commercial garlic fields in California (CA) were devastated by an outbreak of mst caused by Puccinia allii. We compared collections of the pathogen from garlic (Allium sativum) and chives (A. schoenoprasum) in central CA and Oregon (OR) to collections from garlic and leek (A. porrum and A. ampeloprasum) in the Middle East. Teliospores from the CA and OR collections were smaller in length, width, and projected cross-sectional area compared with collections from the Middle East. CA and OR collections had a shortened life cycle, in which pycnia and aecia were not formed. Germinating teliospores produced a two-celled promycelium, resulting in two basidiospores, each initially with two nuclei, indicating that this mst was homothallic. In addition, the morphology of the substomatal vesicles was different between the CA-OR (fusiform) and the Middle Eastern (bulbous) collections. DNA sequence analysis of the nuclear ribosomal internal transcribed spacer region showed that the CA and OR rust collections formed a well-supported cluster distinct from the Middle Eastern and European samples. These results suggest that the rust on garlic and chives in CA and OR is a different species than the rust fungus on garlic and leek in the Middle East. [ABSTRACT FROM AUTHOR]

Crown rust (Puccinia coronata) in indigenous populations of Avena sterilis has been cited as an example of stability of wild pathosystems that consists of natural mixtures of resistance and virulence. This study confirmed that virulence/avirulence polymorphisms in P. coronata on A. sterilis in Israel are highly diverse and that super races do not domintate. Isolates of P. coronata from Israel in 1991 to 1996 were polymorphic for virulence to 35 of 36 differential oat lines with resistance genes from A. sterilis. On average, isolates of P. coronata were more highly virulent to differentials with Pc genes from A. sterilis accessions from Israel than to differentials with Pc genes from other counties. Isolates from Israel also were more virulent on average to 10 additional differentials with Pc genes derived from A. sativa than to differentials with Pc genes from A. sterilis Frequencies of virulence were usually higher in collections of P. coronata from Israel than in collections from cultivated oat in the United States, even though several of the Pc genes in the differentials have been used extensively in American oat cultivars. Mean virulence complexity of P. coronata from eight regions of Israel was not correlated with the distribution of resistance among collections of A. sterilis from previous surveys in the same areas, probably because pathogen migration between regions within Israel is sufficient to obscure effects of selection locally. [ABSTRACT FROM AUTHOR]

We tested the importance of microenvironmental topographic parameters as predictors of emmer wheat genetic variation using three classes of single-locus (or at most several-loci) genetic markers (allozymes, glutenins, and qualitative traits) and two classes of markers of polygenic inheritance (phenological and morphological traits). Canonical correspondence analysis (CCA) and redundancy analysis (RDA) detected a significant effect of spatially structured environmental variation on genetic differences between plants for allozymes, glutenins, and quantitative morphological and phenological traits. However, after removing a spatial component of variation in partial CCA and partial RDA, the relationship of the remaining environmental variation with these genetic markers could be explained by chance alone, allowing us to rule out microniche topographic specialization in emmer wheat. Topographic autocorrelation exhibited a certain degree of similarity with genetic marker auto-correlation, indicating similar scales of environmental heterogeneity and seed flow. The detected population genetic structure agrees with one expected under isolation by distance as a result of limited gene flow. A negative relationship of genetic similarity with the logarithm of distance between plants was detected for both molecular markers and quantitative traits, which differed in the strength but not the pattern of association. [ABSTRACT FROM AUTHOR]

Deals with a study which investigated the distinguishing characteristics of a morphotype of Puccinia coronata pathogenic on smooth brome grass. Materials and methods; Results; Discussion.

A letter to the editor is presented in response to an article about the effectiveness of zinc transport gene mutation to treat an autosomal recessive disease acrodermatitis enteropathica that appeared in previous issue.

Responds to Gael Menasche and colleagues' comments on the authors' article about the genetic aspects of Griscelli syndrome types 1 and 2. Phenotypic difference between patients with RAB27A gene mutations and those with MYO5A gene mutations; Difference between Griscelli/Elejalde syndromes and Gaucher disease.

Aegilops sharonensis (Sharon goatgrass) is a wild relative of wheat and a rich source of genetic diversity for disease resistance. The objectives of this study were to determine the genetic basis of leaf rust, stem rust, and powdery mildew resistance in A. sharonensis and also the allelic relationships between genes controlling resistance to each disease. Progeny from crosses between resistant and susceptible accessions were evaluated for their disease reaction at the seedling and/or adult plant stage to determine the number and action of genes conferring resistance. Two different genes conferring resistance to leaf rust races THBJ and BBBB were identified in accessions 1644 and 603. For stem rust, the same single gene was found to confer resistance to race TTTT in accessions 1644 and 2229. Resistance to stem rust race TPMK was conferred by two genes in accessions 1644 and 603. A contingency test revealed no association between genes conferring resistance to leaf rust race THBJ and stem rust race TTTT or between genes conferring resistance to stem rust race TTTT and powdery mildew isolate UM06-01, indicating that the respective resistance genes are not linked. Three accessions (1644, 2229, and 1193) were found to carry a single gene for resistance to powdery mildew. Allelism tests revealed that the resistance gene in accession 1644 is different from the respective single genes present in either 2229 or 1193. The simple inheritance of leaf rust, stem rust, and powdery mildew resistance in A. sharonensis should simplify the transfer of resistance to wheat in wide crosses. [ABSTRACT FROM AUTHOR]

Sharon goatgrass (Aegilops sharonensis) is a wild relative of wheat that is native to Israel and Lebanon. The importance of A. sharonensis as a source of new resistance genes for wheat warrants additional research on the characterization of accessions for economically important genes. Thus, the objectives of this study were to evaluate a collection of A. sharonensis accessions for resistance to seven important fungal diseases of wheat and assess the phenotypic diversity of the germplasm for disease reaction. The frequency of resistance in A. sharonensis was highest to powdery mildew (79 to 83%) and leaf rust (60 to 77%). Resistance to stem rust also was common, although the percentage of resistant accessions varied markedly depending on the pathogen race—from 13% to race TTTT to 72% to race QCCJ. The frequency of resistance was intermediate to stripe rust (45%) and low to tan spot (15 to 29%) and spot blotch (0 to 34%). None of the A. sharonensis accessions was resistant to Fusarium head blight. Many of the accessions tested exhibited heterogeneous reactions (i.e., had both resistant and susceptible plants) to one or more of the diseases, suggesting that heterozygosity may be present at some resistance loci. Substantial variation was observed in the level of diversity to individual diseases because Shannon's Equitability index ranged from 0.116 (for Fusarium head blight) to 0.994 (for tan spot). A high level of diversity was found both between and within collection sites. Moreover, differences in the geographic distribution of resistant accessions were observed. For example, accessions from northern Israel generally were less diverse and less resistant to leaf rust and stripe rust than accessions from more southern locations. Four A. sharonensis accessions were highly resistant to most of the diseases evaluated and may provide a source of unique resistance genes for introgression into cultivated wheat. [ABSTRACT FROM AUTHOR]

Genetic structure of natural populations of wild crop relatives has been the subject of many studies. Yet, most of them focused on the assessment of spatial genetic diversity, while information on long-term variation, affected by yearly changes, has been considered only in few cases. The present study aimed therefore, to estimate the spatio-temporal genetic variation in populations of wild emmer wheat, the progenitor of domesticated wheat, and to assess the contribution of spatial versus temporal factors to the maintenance of genetic variation in a population. Single spikes were collected in the years 1988 and 2002 from plants that grew in the same sampling points, from six different habitats in the Ammiad conservation site, Eastern Galilee, Israel. Seeds were planted in a nursery and DNA was extracted from each plant and analyzed by the AFLP method. Fourteen primer combinations yielded 1,545 bands of which 50.0 and 48.8% were polymorphic in the years 1988 and 2002, respectively. Genetic diversity was much larger within populations than between populations and the temporal genetic diversity was considerably smaller than the spatial one. Nevertheless, population genetic structure may vary to some degree in different years, mainly due to fluctuations in population size because of yearly rainfall variations. This may lead to predominance of different genotypes in different years. Clustering the plants by their genetic distances grouped them according to their habitats, indicating the existence of genotype-environment affinities. The significance of the results in relation to factors affecting the maintenance of polymorphism in natural populations is discussed. [ABSTRACT FROM AUTHOR]

The genetic relationships between isolates of Puccinia triticina virulent on wheat with the Lr26 resistance gene were studied. The diversity within and between isolates of P. triticina from Israel, Europe, and the United States was determined by virulence on near-isogenic Thatcher lines and by random amplified polymorphic DNA. According to the molecular markers, isolates that were virulent on Lr26 had diversity levels similar to those of Lr26 nonpathogenic isolates. Distances between subpopulations of isolates virulent and avirulent on Lr26 varied and were unrelated to the Lr26 virulence phenotype. Cluster analysis suggested four groups, three of which were closely associated with the geographical origin of the isolates—Israel, the United States, and Europe. All four groups included both Lr26 virulent and avirulent pathotypes. The results showed that Lr26 virulent rust pathotypes are as genetically dissimilar as the rest of the population. The cluster analysis showed that the rust population in Israel includes at least two different subpopulations, both of which contain Lr26 virulent and Lr26 avirulent isolates. [ABSTRACT FROM AUTHOR]

Many plant pathogenic fungi have a global distribution across diverse ecological zones and agricultural production systems. Puccinia triticina, the wheat leaf rust fungus, is a major pathogen in many wheat production areas of the world. The objective of this research was to determine the genetic relatedness of P. triticina in different worldwide regions. A total of 831 single-uredinial isolates collected from 11 regions were characterized for multilocus genotype at 23 simple sequence repeat loci and for virulence to 20 lines of wheat with single genes for leaf rust resistance. A total of 424 multilocus genotypes and 497 virulence phenotypes were found. All populations had high heterozygosity and significant correlation between virulence and molecular variation, which indicated clonal reproduction. The populations from North America and South America, Central Asia and Russia, and the Middle East and Europe were closely related for multilocus genotypes and many individual isolates from other continental regions were closely related. Twenty-seven multilocus genotypes were found in more than one continental region, and 13 of these had isolates with identical virulence phenotypes. The wide geographic distribution of identical and highly related multilocus genotypes of P. triticina indicated past and more recent migration events facilitated by the spread of clonally produced urediniospores. [ABSTRACT FROM AUTHOR]

Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria. We now report on four patients from two unrelated families who presented with severe intellectual disability and seizure disorder, accompanied by slightly elevated lactate level, 3-methylglutaconic aciduria and variable deficiency of mitochondrial complex V. Using exome analysis we identified two homozygous missense mutations, Arg217Trp and Thr252Met, in the TIMM50 gene. The TIMM50 protein is a subunit of TIM23 complex, the mitochondrial import machinery. It serves as the major receptor in the intermembrane space, binding to proteins which cross the mitochondrial inner membrane on their way to the matrix. The mutations, which affected evolutionary conserved residues and segregated with the disease in the families, were neither present in large cohorts of control exome analyses nor in our ethnic specific exome cohort. Given the phenotypic similarity, we conclude that missense mutations in TIMM50 are likely manifesting by severe intellectual disability and epilepsy accompanied by 3-methylglutaconic aciduria and variable mitochondrial complex V deficiency. 3-methylglutaconic aciduria is emerging as an important biomarker for mitochondrial dysfunction, in particular for mitochondrial membrane defects. [ABSTRACT FROM AUTHOR]

Microtubule dynamics play a crucial role in neuronal development and function, and several neurodevelopmental disorders have been linked to mutations in genes encoding tubulins and functionally related proteins. Most recently, variants in the tubulin cofactor D ( TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimer, were reported to underlie a recessive neurodevelopmental/neurodegenerative disorder. We report on five patients from three unrelated families, who presented with microcephaly, intellectual disability, intractable seizures, optic nerve pallor/atrophy, and cortical atrophy with delayed myelination and thinned corpus callosum on brain imaging. Exome sequencing allowed the identification of biallelic variants in TBCD segregating with the disease in the three families. TBCD protein level was significantly reduced in cultured fibroblasts from one patient, supporting defective TBCD function as the event underlying the disorder. Such reduced expression was associated with accelerated microtubule re-polymerization. Morpholino-mediated TBCD knockdown in zebrafish recapitulated several key pathological features of the human disease, and TBCD overexpression in the same model confirmed previous studies documenting an obligate dependency on proper TBCD levels during development. Our findings confirm the link between inactivating TBCD variants and this newly described chaperone-associated tubulinopathy, and provide insights into the phenotype of this disorder. [ABSTRACT FROM AUTHOR]

Psychotria nervosa, commonly called "wild coffee" (Rubiaceae), is an important ethno-medicinal plant in India. In 2010, a new rust disease of P. nervosa was observed in three regions of Mysore District, Karnataka (India), with disease incidence ranging from 58 to 63%. Typical symptoms of the rust disease on wild coffee were prominently visible during the early monsoon season (May to June), with chlorotic spots on the adaxial and black pustules (telia) on the abaxial leaf surface. Telia produced abundant teliospores, which were bicelled, pedicillate, and measured 33 to 45 by 19 to 30 µm. The germination of teliospores produced a typical metabasidium bearing four basidiospores, each containing two haploid nuclei. Spore stages of the wild coffee rust pathogen were studied using artificially inoculated healthy wild coffee plants with germinated teliospores. Only telia were observed on the inoculated plants, indicating that this rust fungus has an abbreviated microcyclic life cycle that includes only teliospores and basidiospores. Phylogenetic analysis based on internal transcribed spacer and partial large subunit (LSU) sequence data showed that the wild coffee rust pathogen is related to Macruropyxis fraxini, Puccinia bartholomaei, P. choridis, and P. sparganioidis. The herbarium sample of P. psychotriae was examined and was shown to be different with respect to telium size and teliospore dimensions (24 to 32 by 13 to 18 pm). Therefore, the rust pathogen causing wild coffee rust is a new species, P. mysuruensis sp. nov. [ABSTRACT FROM AUTHOR]

Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpus callosum (CC) underwent trio whole-exome sequencing. No candidate variant was found in any known genes related to the phenotype. However, crossing the data of the patients illustrated that they both manifested pathogenic variants in the SLC1A4 gene which codes the ASCT1 transporter of serine and other neutral amino acids. The Ashkenazi patient is homozygous for a deleterious missense c. 766G>A, p.( E256K) mutation whereas the Ashkenazi-Iraqi patient is compound heterozygous for this mutation and a nonsense c. 945delTT, p.( Leu315Hisfs*42) mutation. Structural prediction demonstrates truncation of significant portion of the protein by the nonsense mutation and speculates functional disruption by the missense mutation. Both mutations are extremely rare in general population databases, however, the missense mutation was found in heterozygous mode in 1:100 Jewish Ashkenazi controls suggesting a higher carrier rate among Ashkenazi Jews. We conclude that SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin CC. The role of SLC1A4 in the serine transport from astrocytes to neurons suggests a possible pathomechanism for this disease and implies a potential therapeutic approach. [ABSTRACT FROM AUTHOR]

Leaf rust of wheat, caused by Puccinia triticina, is a common and widespread disease in the Middle East. The objective of this study was to determine whether genetically differentiated groups of P. triticina are present in the Middle East region and to compare the population from the Middle East with the previously characterized population from Central Asia to determine whether genetically similar groups of isolates are found in the two regions. In total, 118 isolates of P. triticina collected from common wheat and durum wheat in Egypt, Israel, Turkey, Ethiopia, and Kenya were tested for virulence on 20 lines of wheat with single genes for leaf rust resistance and for molecular genotypes with 23 simple-sequence repeat (SSR) markers. After removal of isolates with identical virulence and SSR genotype in each country, 103 isolates were retained for further analysis. Clustering of SSR genotypes based on two-dimensional principal coordinates and virulence to wheat differential lines grouped the isolates into four Middle East (ME) groups. The two largest ME groups had virulence phenotypes typical of isolates collected from common wheat and two smaller ME groups had virulence typical of isolates collected from durum wheat. All pairs of ME groups were significantly differentiated for SSR genotype based on RST and FST statistics, and for virulence phenotype based on ΦPT. All ME groups had observed values of heterozygosity greater than expected and significant fixation indices that indicated the clonal reproduction of urediniospores in the overall population. Linkage disequilibria for SSR genotypes was high across the entire population. The overall values of RST and FST were lower when isolates were grouped by country of origin that indicated the likely migration of isolates within the region. Although the two ME groups with virulence typical of isolates from common wheat were not differentiated for SSR genotype from groups of isolates from Central Asia based on RST, there was no direct evidence for migration between the two regions because all ME isolates differed from the Central Asia isolates for SSR genotypes. [ABSTRACT FROM AUTHOR]

Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine hydroxylase deficiency, causing phenylketonuria (PKU). Among 159 Israeli patients (Jews, Muslim and Christian Arabs and Druze) with HPA, in whom at least one of the mutations was characterized, a total of 43 different mutations were detected, including seven novel ones. PKU was very rare among Ashkenazi Jews and relatively frequent among Jews from Yemen, the Caucasian Mountains, Bukhara and Tunisia. The mutations responsible for the high frequency were: exon3del (Yemenite Jews), L48S (Tunisian Jews) and E178G, P281L and L48S (Jews from the Caucasian Mountains and Bukhara). Among the non-Jewish Israeli citizens, the disease was relatively frequent in the Negev and in the Nazareth vicinity, and in many localities a unique mutation was detected, often in a single family. While marked genetic heterogeneity was observed in the Arab and Jewish populations, only one mutation A300S, was frequent in all of the communities. Several of the other frequent mutations were shared by the non-Ashkenazi Jews and Arabs; none were mutual to Ashkenazi Jews and Arabs. [ABSTRACT FROM AUTHOR]

Objective: To characterize the pulmonary dysfunction in patients with nephropathic cystinosis after renal transplantation.Design: Cross-sectional analysis of consecutive adult patients.Patients: Twelve adult, nephropathic cystinosis patients and 3 adult, ocular, nonnephropathic cystinosis patients admitted to the National Institutes of Health Clinical Center.Results: The 12 nephropathic cystinosis patients (age range, 21 to 40 years) showed an extraparenchymal pattern of restrictive lung disease, with inspiratory and expiratory dysfunction. Specifically, the mean FVC was 58% of predicted, the mean FEV(1) was 57% of predicted, and the mean total lung capacity was 66% of predicted, while the mean residual volume was normal. Furthermore, the mean maximal inspiratory pressure for the eight patients tested was 40% of predicted, and the mean maximal expiratory pressure was 26% of predicted. Two patients died of respiratory insufficiency. All the patients had lived at least 17 years, while lacking compliant cystine-depleting therapy with oral cysteamine. Seven patients had a conical chest, restricting excursion, and 10 of the 12 patients had evidence of the myopathy that typifies late cystinosis. In fact, the severity of pulmonary disease correlated directly with the severity of myopathy in our group of 12 patients. In contrast, the lung parenchyma was essentially normal, as gauged by chest radiographs and CT scans of the lung. The three patients with nonnephropathic cystinosis displayed entirely normal pulmonary function.Conclusion: The distal myopathy characteristic of nephropathic cystinosis results in an extraparenchymal pattern of restrictive lung disease in adults who have not received long-term cystine depletion. Whether or not oral cysteamine therapy can prevent this complication remains to be determined. [ABSTRACT FROM AUTHOR]

The article presents a case study of 4-year-old girl with trichohepatoenteric syndrome (THS), a rare form of congenital diarrhea, in which whole-exome sequencing was used as a routine clinical diagnostics tool. The patient's exome sequencing revealed 590 rare homozygous variants and found TTC37 homozygous missense mutation. The findings determined that whole-exome sequencing may be successfully used for undiagnosed patients.

The objective of the present study was to elucidate the molecular basis of a new clinical entity of childhood familial immune mediated relapsing polyneuropathy associated with chronic Coombs-negative hemolysis. Since infancy these children had recurrent episodes of weakness and hemolysis with partial improvement following immune modulating therapy. One child died at the age of 3.5years while the others demonstrated severe lower limb paralysis. A founder mutation was searched for using homozygosity mapping followed by exome sequencing in 5 infants of North-African Jewish origin from 4 unrelated families. The expression of CD59, CD55, and CD14 was examined in blood cells by flow cytometry followed by Western blot of the CD59 protein. Homozygous missense mutation, p.Cys89Tyr in CD59, was identified in all patients. The mutation segregated with the disease in the families and had a carrier rate of 1:66 among Jewish subjects of North-African origin. The mutated protein was present in the patients’ cells in reduced amounts and was undetectable on the membrane surface. CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. Based on the results of the present study, we suggest that the Cys89Tyr mutation in CD59 is associated with a failure of proper localization of the CD59 protein in the cell surface and decreased complement inhibition. This mutation is manifested clinically in infancy by relapsing peripheral demyelinating disease and chronic hemolysis. [Copyright &y& Elsevier]