Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes to the genomic instability.     

Jaw muscle fiber type distribution in Hawaiian gobioid stream fishes: histochemical correlations with feeding ecology and behavior

Differences in fiber type distribution in the axial muscles of Hawaiian gobioid stream fishes have previously been linked to differences in locomotor performance, behavior, and diet across species. Using ATPase assays, we examined fiber types of the jaw opening sternohyoideus muscle across five species, as well as fiber types of three jaw closing muscles (adductor mandibulae A1, A2, and A3). The jaw muscles of some species of Hawaiian stream gobies contained substantial red fiber components. Some jaw muscles always had greater proportions of white muscle fibers than other jaw muscles, independent of species. In addition, comparing across species, the dietary generalists (Awaous guamensis and Stenogobius hawaiiensis) had a lower proportion of white muscle fibers in all jaw muscles than the dietary specialists (Lentipes concolor, Sicyopterus stimpsoni, and Eleotris sandwicensis). Among Hawaiian stream gobies, generalist diets may favor a wider range of muscle performance, provided by a mix of white and red muscle fibers, than is typical of dietary specialists, which may have a higher proportion of fast-twitch white fibers in jaw muscles to help meet the demands of rapid predatory strikes or feeding in fast-flowing habitats.     

Differential alteration of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA in the central nervous system of hens treated with diisopropylphosphorofluoridate (DFP).

A single dose (1.7 mg/kg, s.c.) of diisopropylphosphorofluoridate (DFP) causes organophosphorus ester-induced delayed neurotoxicity (OPIDN) in susceptible species. We studied the effects of DFP administration on the mRNA expression of glyceraldehyde-3-phosphate dehydrogenase (GAPDH), an important glycolytic protein at different time points (1, 2, 5, 10 and 20 days) post-treatment. Total RNA was extracted from cerebrum, cerebellum, brainstem, midbrain, and spinal cord of the control and DFP-treated hens, and northern blots were prepared using standard protocols and hybridized with GAPDH, as well as beta-actin and 28S RNA cDNA (control) probes. There was a distinct spatial/temporal mRNA expression pattern for the different tissues studied. Non-susceptible tissue, cerebrum showed a dramatic increase in GAPDH mRNA at day 1, post-treatment and levels remained high at all time points, suggestive of protective mechanisms from the beginning. In contrast, highly susceptible tissues like brainstem, spinal cord and midbrain showed either no elevation or slight down-regulation at day 1, suggesting trauma and cell injury/cell death. Overall, there was moderate level of induction during the subsequent time points in these tissues, indicative of pathways of either recovery or degeneration. Cerebellum being the less susceptible tissue showed moderate increase initially, followed by higher induction, suggestive of rapid recovery. Our current data on GAPDH provides an important link in this complex network of molecular changes involving pathways identified by our group and others, such as nitric oxide (NO), CaM kinase-II (CaMK-II), protein kinase-A (PKA), c-fos, and phosphorylated-CREB (p-CREB) in DFP-induced OPIDN.     

Musculoskeletal determinants of pelvic sucker function in hawaiian stream gobiid fishes: Interspecific comparisons and allometric scaling

Gobiid fishes possess a distinctive ventral sucker, formed from fusion of the pelvic fins. This sucker is used to adhere to a wide range of substrates including, in some species, the vertical cliffs of waterfalls that are climbed during upstream migrations. Previous studies of waterfall‐climbing goby species have found that pressure differentials and adhesive forces generated by the sucker increase with positive allometry as fish grow in size, despite isometry or negative allometry of sucker area. To produce such scaling patterns for pressure differential and adhesive force, waterfall‐climbing gobies might exhibit allometry for other muscular or skeletal components of the pelvic sucker that contribute to its adhesive function. In this study, we used anatomical dissections and modeling to evaluate the potential for allometric growth in the cross‐sectional area, effective mechanical advantage (EMA), and force generating capacity of major protractor and retractor muscles of the pelvic sucker (m. protractor ischii and m. retractor ischii) that help to expand the sealed volume of the sucker to produce pressure differentials and adhesive force. We compared patterns for three Hawaiian gobiid species: a nonclimber (Stenogobius hawaiiensis), an ontogenetically limited climber (Awaous guamensis), and a proficient climber (Sicyopterus stimpsoni). Scaling patterns were relatively similar for all three species, typically exhibiting isometric or negatively allometric scaling for the muscles and lever systems examined. Although these scaling patterns do not help to explain the positive allometry of pressure differentials and adhesive force as climbing gobies grow, the best climber among the species we compared, S. stimpsoni, does exhibit the highest calculated estimates of EMA, muscular input force, and output force for pelvic sucker retraction at any body size, potentially facilitating its adhesive ability. J. Morphol. 2013. © 2013 Wiley Periodicals, Inc.     

Morphological selection in an extreme flow environment: body shape and waterfall-climbing success in the Hawaiian stream fish Sicyopterus stimpsoni

Flow characteristics are a prominent factor determining body shapes in aquatic organisms, and correlations between body shape and ambient flow regimes have been established for many fish species. In this study, we investigated the potential for a brief period of extreme flow to exert selection on the body shape of juvenile climbing Hawaiian gobiid fishes. Because of an amphidromous life history, juvenile gobies that complete an oceanic larval phase return to freshwater habitats, where they become adults. Returning juveniles often must scale waterfalls (typically with the use of a ventral sucker) in order to reach the habitats they will use as adults, thereby exposing these animals to brief periods of extreme velocities of flow. Hydrodynamic theory predicts that bodies with larger suckers and with lower heights that reduce drag would have improved climbing success and, thus, be well suited to meet the demands of the flows in waterfalls. To test the potential for the flow environment of waterfalls to impose selection that could contribute to differences in body shape between islands, we subjected juvenile Sicyopterus stimpsoni to climbing trials up artificial waterfalls (～100 body lengths) and measured differences in body shape between successful and unsuccessful climbers. Waterfalls appear to represent a significant selective barrier to these fishes, as nearly 30% failed our climbing test. However, the effects of selection on morphology were not straightforward, as significant differences in shape between successful and unsuccessful climbers did not always match hydrodynamic predictions. In both selection experiments and in adult fish collected from habitats with different prevailing conditions of flow (the islands of Hawai'i versus Kaua'i), lower head heights were associated with exposure to high-flow regimes, as predicted by hydrodynamic theory. Thus, a premium appears to be placed on the reduction of drag via head morphology throughout the ontogeny of this species. The congruence of phenotypic selection patterns observed in our experiments, with morphological character divergence documented among adult fish from Hawai'i and Kaua'i, suggests that differences in morphology between subpopulations of adult climbing gobies may result, at least in part, from the selective pressures of high-velocity flows encountered by migrating juveniles.     

Evolutionary Novelty versus Exaptation: Oral Kinematics in Feeding versus Climbing in the Waterfall-Climbing Hawaiian Goby Sicyopterus stimpsoni

Species exposed to extreme environments often exhibit distinctive traits that help meet the demands of such habitats. Such traits could evolve independently, but under intense selective pressures of extreme environments some existing structures or behaviors might be coopted to meet specialized demands, evolving via the process of exaptation. We evaluated the potential for exaptation to have operated in the evolution of novel behaviors of the waterfall-climbing gobiid fish genus Sicyopterus. These fish use an “inching” behavior to climb waterfalls, in which an oral sucker is cyclically protruded and attached to the climbing surface. They also exhibit a distinctive feeding behavior, in which the premaxilla is cyclically protruded to scrape diatoms from the substrate. Given the similarity of these patterns, we hypothesized that one might have been coopted from the other. To evaluate this, we filmed climbing and feeding in Sicyopterus stimpsoni from Hawai’i, and measured oral kinematics for two comparisons. First, we compared feeding kinematics of S. stimpsoni with those for two suction feeding gobiids (Awaous guamensis and Lentipes concolor), assessing what novel jaw movements were required for algal grazing. Second, we quantified the similarity of oral kinematics between feeding and climbing in S. stimpsoni, evaluating the potential for either to represent an exaptation from the other. Premaxillary movements showed the greatest differences between scraping and suction feeding taxa. Between feeding and climbing, overall profiles of oral kinematics matched closely for most variables in S. stimpsoni, with only a few showing significant differences in maximum values. Although current data cannot resolve whether oral movements for climbing were coopted from feeding, or feeding movements coopted from climbing, similarities between feeding and climbing kinematics in S. stimpsoni are consistent with evidence of exaptation, with modifications, between these behaviors. Such comparisons can provide insight into the evolutionary mechanisms facilitating exploitation of extreme habitats.     

Stream dissolved organic matter bioavailability and composition in watersheds underlain with discontinuous permafrost

We examined the impact of permafrost on dissolved organic matter (DOM) composition in Caribou-Poker Creeks Research Watershed (CPCRW), a watershed underlain with discontinuous permafrost, in interior Alaska. We analyzed long term data from watersheds underlain with varying degrees of permafrost, sampled springs and thermokarsts, used fluorescence spectroscopy, and measured the bioavailabity of dissolved organic carbon (DOC). Permafrost driven patterns in hydrology and vegetation influenced DOM patterns in streams, with the stream draining the high permafrost watershed having higher DOC and dissolved organic nitrogen (DON) concentrations, higher DOC:DON and greater specific ultraviolet absorbance (SUVA) than the streams draining the low and medium permafrost watersheds. Streams, springs and thermokarsts exhibited a wide range of DOC and DON concentrations (1.5–37.5 mgC/L and 0.14–1.26 mgN/L, respectively), DOC:DON (7.1–42.8) and SUVA (1.5–4.7 L mgC⁻¹ m⁻¹). All sites had a high proportion of humic components, a low proportion of protein components, and a low fluorescence index value (1.3–1.4), generally consistent with terrestrially derived DOM. Principal component analysis revealed distinct groups in our fluorescence data determined by diagenetic processing and DOM source. The proportion of bioavailable DOC ranged from 2 to 35%, with the proportion of tyrosine- and tryptophan-like fluorophores in the DOM being a major predictor of DOC loss (p < 0.05, R ² = 0.99). Our results indicate that the degradation of permafrost in CPCRW will result in a decrease in DOC and DON concentrations, a decline in DOC:DON, and a reduction in SUVA, possibly accompanied by a change in the proportion of bioavailable DOC.     

Differences in locomotor behavior correspond to different patterns of morphological selection in two species of waterfall-climbing gobiid fishes

Behavior plays an important role in mediating relationships between morphology and performance in animals and, thus, can influence how selection operates. However, to what extent can the use of specific behaviors be associated with particular types of selection on morphological traits? Laboratory selection analyses on waterfall-climbing gobiid fishes were performed to investigate how behavioral variations in locomotion can affect patterns of linear and nonlinear morphological selection. Species from sister genera (Sicyopterus stimpsoni and Sicydium punctatum) that use different climbing behaviors were exposed to similar artificial waterfalls to simulate a controlled selective regime involving the climbing of a nearly vertical slope against flowing water. Juvenile S. stimpsoni “inch up” waterfalls by alternate attachment of oral and pelvic suckers with little axial or fin movement, leading to straightforward expectations that climbing selection should favor morphologies that improve drag reduction and substrate adhesion. In contrast, juvenile S. punctatum climb using substantial axial and fin movements, complicating expectations for selection patterns and potentially promoting correlational selection. Comparisons of directional, quadratic and correlational selection coefficients for various morphological traits and trait interactions indicated that these species showed different selection patterns that generally fit these predictions. Both directional and correlational selection patterns were different between the species, and on average were stronger in S. punctatum compared to S. stimpsoni. Stronger selection in S. punctatum may be related to its climbing style that requires more integrated movement of the fins and body axis than S. stimpsoni, promoting dynamic interactions among body regions within a complicated hydrodynamic environment.     

Lycopene solid lipid microparticles with enhanced effect on gingival crevicular fluid protein carbonyl as a biomarker of oxidative stress in patients with chronic periodontitis

Abstract

Lycopene (LP), a naturally occurring carotenoid in red-coloured fruits, especially tomatoes, has a pivotal role in counteracting the deleterious effect of oxidative stress on periodontal tissues. The aim of this study is to prepare solid lipid microparticles (SLMs) encapsulating LP and to assess their biochemical and clinical effects in the management of chronic periodontitis. Optimization of SLMs was performed by assessing particle size and LP entrapment efficiency. Clinical study included 16 chronic periodontitis patients allocated into two groups, Group I was managed by scaling and root planing (SRP) and local delivery of LP loaded SLMs, while Group II was managed by SRP only. Protein carbonyl (PC) levels as a biomarker of oxidative stress and drug concentration in gingival crevicular fluid (GCF) were assessed at different time intervals. Results revealed that optimum formula of SLMs had a particle size of 77.28 µm and entrapped 98.03% of LP. SLMs recorded 30 d of drug release with no burst effect. Patients treated with LP SLMs showed significantly lower levels of PC after SRP compared to those treated with SRP only, in addition to improvement in the measured clinical parameters. In conclusion, locally delivered LP SLMs along with SRP could have a protective effect over periodontal tissues and it has the ability to decrease oxidative damage of proteins in diseased periodontium.