Supernumerary marker 15 chromosomes: a clinical,molecular and FISH approach to diagnosis and prognosis

Seventeen patients presenting with either de novo or familial supernumerary marker (mar) 15 chromosomes were shown by fluorescent in situ hybridization techniques (FISH) to have markers derived from and composed entirely of chromosome 15 material. Using a combination of conventional cytogenetics, FISH, Southern blotting and multiplex polymerase chain reaction (PCR) methods, it was possible to sub-classify the 17 mar(15)s into six distinct morphological and molecular groups. Analysis of DNA and metaphase spreads from the probands and their parents using probes and primers from the pericentromeric and Prader-Willi/Angelman syndromes critical regions (PWS/AS), clearly differentiated between marker 15 s which included the PWS/AS critical regions and those which did not. A direct correlation between the presence of the PWS/AS region in the mar(15) and severe mental retardation was observed. Based on these results, a system of classification of supernumerary marker 15 chromosomes is proposed.     

Correlated extinctions, colonizations and population fluctuations in a highly connected ringlet butterfly metapopulation

 The persistence of metapopulations is likely to be highly dependent on whether population dynamics are correlated among habitat patches as a result of migration between patches and spatially-correlated environmental stochasticity (weather effects). We examined whether population dynamics of the ringlet butterfly, Aphantopus hyperantus, were synchronous in an area of approximately 0.5 km², with respect to extinction, colonization and population fluctuations. Monks Wood Butterfly Monitoring Scheme transect count data from 1973 to 1995, revealed (A) a major environmental perturbation, the drought of 1976, which caused synchronized extinctions of A. hyperantus in subsequent years, (B) synchronized recolonization in years following the large number of apparent extinctions, and (C) population changes by A. hyperantus were highly correlated in many of the 14 sections of the transect, presumably reflecting similar responses to environmental stochasticity, and the exchange of individuals among sections. However, extinction and population synchrony depended on habitat type. Following the 1976 drought, A. hyperantus apparently became extinct from the most open and most shady habitats it occupied, with some persistence in habitats of intermediate shading, thus showing retraction to core populations in central parts of an environmental gradient, albeit with an average shift to relatively open habitat. Populations at extreme ends of the environmental gradient occupied by A. hyperantus fluctuated least synchronously, suggesting a potential buffering effect of habitat heterogeneity, but this was not crucial to survival after the 1976 drought. Thus, not all habitats are equally important to persistence. Correlated temporal dynamics, variation in habitat quality and the interaction between habitat quality and temporal environmental stochasticity are important determinants of metapopulation persistence and should be incorporated in metapopulation models. Received: 26 April 1996 / Accepted: 17 July 1996     

Role of topography sensing for infection-structure differentiation in cereal rust fungi

Over 90% of the germ tubes of Puccinia graminis tritici (wheat stem rust) and Puccinia hordei (barley brown rust) differentiate appressoria on encountering stomata.There has been controversy as to the role of host topographical signals in the highly precise and efficient induction of these infection structures over stomata by cereal rusts. In the present study, polystyrene replicas of microfabricated silicon wafers, bearing precise microtopographies of defined dimensions, were used to investigate the influence of ridge spacing and height on infection-structure induction by P. graminis tritici and P. hordei. It was found that artificial topographical signals alone can induce a reproducibly high percentage (83–86%) of germ tubes to differentiate infection structures. Multiple, closely spaced (1.5 μm) ridges which were 2.0 μm high provided the most inductive topography. Differentiation on flat surfaces and over single ridges was < 4%. Appressorium induction commonly initiated a cascade of differentiation events involving the formation of infection pegs, vesicles, infection hyphae, and occasionally haustorial mother cells. It is suggested that the close spacing of cell junctions associated with the dumbbell-shaped guard cells of cereal stomatal complexes provide inductive signals for infection-structure formation by cereal rusts in vivo. Received: 17 October 1996 / Accepted: 5 December 1996     

Effect of mechanical deformation on structure and function of polymorphonuclear leukocytes

Kitagawa, Yuko, Stephan F. Van Eeden, Darlene M. Redenbach,Maleki Daya, Blair A. M. Walker, Maria E. Klut, Barry R. Wiggs, andJames C. Hogg. Effect of mechanical deformation on structure andfunction of polymorphonuclear leukocytes. J. Appl.Physiol. 82(5): 1397-1405, 1997.The presentstudies were designed to test the hypothesis that mechanicaldeformation of polymorphonuclear leukocytes (PMN) leads to functionalchanges that might influence their transit in the pulmonarycapillaries. Human leukocytes were passed through 5- or 3-µm-porepolycarbonate filters under controlled conditions. Morphometricanalysis showed that the majority of PMN were deformed and that thisdeformation persisted longer after filtration through 3-µm filtersthan through 5-µm filters (P < 0.05) but did not result in the cytoskeletal polarizationcharacteristic of migrating cells. Flow cytometric studies of thefiltered PMN showed that there was a transient increase in thecytosolic free Ca²⁺ concentrationafter both 3- and 5-µm filtration (P < 0.01) with an increase in F-actin content after 3-µm filtration(P < 0.05). AlthoughL-selectin expression on PMN wasnot changed by either 5- or 3-µm filtration, CD18 and CD11b wereincreased by 3-µm filtration (P < 0.05). Priming of the PMN withN-formyl-methionyl-leucyl-phenylalanine (0.5 nM) before filtration resulted in an increase of CD11b by both 5 (P < 0.05)- and 3-µm(P < 0.01) filtration. Neither 5- nor 3-µm filtration induced hydrogen peroxide production. We conclude that mechanical deformation of PMN, similar to what occurs in thepulmonary microvessels, induces both structural and functional changesin the cells, which might influence their passage through the pulmonarycapillary bed.

     

Rapid warming and drought negatively impact population size and reproductive dynamics of an avian predator in the arid southwest

Avian communities of arid ecosystems may be particularly vulnerable to global climate change due to the magnitude of projected change for desert regions and the inherent challenges for species residing in resource limited ecosystems. How arid‐zone birds will be affected by rapid increases in air temperature and increased drought frequency and severity is poorly understood because avian responses to climate change have primarily been studied in the relatively mesic northern temperate regions. We studied the effects of increasing air temperature and aridity on a Burrowing Owl (Athene cunicularia) population in the southwestern United States from 1998 to 2013. Over 16 years, the breeding population declined 98.1%, from 52 pairs to 1 pair, and nest success and fledgling output also declined significantly. These trends were strongly associated with the combined effects of decreased precipitation and increased air temperature. Arrival on the breeding grounds, pair formation, nest initiation, and hatch dates all showed significant delays ranging from 9.4 to 25.1 days over 9 years, which have negative effects on reproduction. Adult and juvenile body mass decreased significantly over time, with a loss of 7.9% mass in adult males and 10.9% mass in adult females over 16 years, and a loss of 20.0% mass in nestlings over 8 years. Taken together, these population and reproductive trends have serious implications for local population persistence. The southwestern United States has been identified as a climate change hotspot, with projections of warmer temperatures, less winter precipitation, and an increase in frequency and severity of extreme events including drought and heat waves. An increasingly warm and dry climate may contribute to this species' decline and may already be a driving force of their apparent decline in the desert southwest.