The onset of foreign gene transcription in nuclear-transferred embryos of fish

The transcriptional onset of hGH-transgene in fish was studied in the following three cases: the first is in MThGH-transgenic F-4 common carp (Cyprinus carpio) embryos, the second is in nuclear-transferred embryos supported by the transgenic F-4 embryonic nuclei, and the third is in nuclear-transferred embryos supported by the transgenic F-4 tail-fin nuclei. RT-PCR results show that the hGH-transgene initiates its transcriptional activity from early-gastrula stage, the early blastula stage and even 16-cell stage in the first, second and third cases, respectively. it looks like that fish egg cytoplasm could just offer a very restricted reprogramming on transcriptional activity of specific gene in differentiated cell nuclei by nuclear transplantation.

Optical anisotropy and strain evolution of GaAs surfaces at the onset of the formation of InAs quantum dots

By using reflectance difference spectroscopy we have studied the in-plane optical anisotropy of GaAs surfaces covered by ultrathin InAs layers. The strain evolution of the GaAs surface with the InAs deposition thickness can be obtained. It is found that the optical anisotropy and the surface tensile strain attain maximum values at the onset of the formation of InAs quantum dots (QDs) and then decrease rapidly as more InAs QDs are formed with the increase of InAs deposition. The origin of the optical anisotropy has been discussed.

Size quantization effects in InAs self-assembled islands on InP(001) at the onset of 2D-to-3D transition

Photoluminescence spectroscopy has been used to investigate self-assembled InAs islands in InAlAs grown on InP(0 0 1) by molecular beam epitaxy, in correlation with transmission electron microscopy. The nominal deposition of 3.6 monolayers of InAs at 470 degrees C achieves the onset stage of coherent island formation. In addition to one strong emission around 0.74 eV, the sample displaces several emission peaks at 0.87, 0.92. 0.98, and 1.04 eV. Fully developed islands that coexist with semi-finished disk islands account for the multipeak emission. These results provide strong evidence of size quantization effects in InAs islands. (C) 1999 Elsevier Science B.V. All rights reserved.

Numerical study on onset of oscillatory thermocapillary flow in rectangular liquid pool

Thermocapillary flow in a rectangular liquid pool of large Prandtl fluid (Pr = 105.6) is numerically studied in microgravity. Oscillatory thermocapillary flow arises when the imposed temperature difference between the sidewalls exceeds a critical value. The fluctuations of the oscillatory flow, accompanied by the propagation of the hydrothermal wave from the cold sidewall to the hot one, are much smaller than the time-averaged velocity and temperature fields. The corresponding disturbance cells arise in the centre of the liquid pool initially, and extend to the whole region with the increasing imposed temperature difference. The present study reveals the different characteristics of the oscillatory themocapillary flow in the rectangular liquid pool as compared to the cases in other configurations.

Influence of mean water depth and a subsurface sandbar on the onset and strength of wave breaking

Wave breaking in the open ocean and coastal zones remains an intriguing yet incompletely understood process, with a strong observed association with wave groups. Recent numerical study of the evolution of fully nonlinear, two-dimensional deep water wave groups identified a robust threshold of a diagnostic growth-rate parameter that separated nonlinear wave groups that evolved to breaking from those that evolved with recurrence. This paper investigates whether these deep water wave-breaking results apply more generally, particularly in finite-water-depth conditions. For unforced nonlinear wave groups in intermediate water depths over a flat bottom, it was found that the upper bound of the diagnostic growth-rate threshold parameter established for deep water wave groups is also applicable in intermediate water depths, given by k(0) h greater than or equal to 2, where k(0) is the mean carrier wavenumber and h is the mean depth. For breaking onset over an idealized circular arc sandbar located on an otherwise flat, intermediate-depth (k(0) h greater than or equal to 2) environment, the deep water breaking diagnostic growth rate was found to be applicable provided that the height of the sandbar is less than one-quarter of the ambient mean water depth. Thus, for this range of intermediate-depth conditions, these two classes of bottom topography modify only marginally the diagnostic growth rate found for deep water waves. However, when intermediate-depth wave groups ( k(0) h greater than or equal to 2) shoal over a sandbar whose height exceeds one-half of the ambient water depth, the waves can steepen significantly without breaking. In such cases, the breaking threshold level and the maximum of the diagnostic growth rate increase systematically with the height of the sandbar. Also, the dimensions and position of the sandbar influenced the evolution and breaking threshold of wave groups. For sufficiently high sandbars, the effects of bottom topography can induce additional nonlinearity into the wave field geometry and associated dynamics that modifies the otherwise robust deep water breaking-threshold results.

Role of snow depth in spring of Tibetan Plateau in onset of South China Sea summer monsoon

The role of snow depth of Tibetan Plateau in the onset of South China Sea summer monsoon and the influence of ENSO on snow depth of Tibetan Plateau are investigated with use of data from ECMWF reanalysis and NCEP/NCAR reanalysis. The results are as follows: (1) The snow depth data from ECMWF reanalysis are tested and reliable, and can be used to study the influence of snow depth of Tibetan Plateau on the onset of South China Sea summer monsoon; (2) Anomaly of snow depth of Tibetan Plateau causes anomaly in air temperature and its contrast between the Indian Ocean and the continent resulting in easterly wind anomaly over 500 hPa and hence as well as in the atmospheric circulation in the lower layer. For the year of negative anomaly of snow depth a westerly wind anomaly with a cyclone pair takes place, while for positive anomaly of snow depth an easterly anomaly occurs with an anticyclone pair; (3) While positive anomaly of SST occurs in the eastern Pacific Ocean, positive anomaly of air pressure also takes place over the eastern Indian Ocean and the South China Sea, causing stronger meridional pressure gradient between the ocean and continent and then westerly wind anomaly. At the same time, the atmospheric pressure increases in the northern Tibetan Plateau, northerly wind gets stronger, and subtropical front strengthens. All of these are favorable for snowfall over Tibetan Plateau.

An approach to prediction of the South China Sea summer monsoon onset

In the present paper, correlation between the South China Sea summer monsoon (SCSSM) onset and heat content in the upper layer of the warm pool in the western Pacific Ocean is examined using the Scripps Institution of Oceanography dataset for the period of 1955-1998 and an approach to prediction the SCSSM onset is proposed. Correlation showes that there exists interdecadal variability of the SCSSM onset demarcated by 1970 with the largest correlation coefficient in the area west of the center of the warm pool rather than near its centers, implying certain effect from other factors involved besides ENSO. As the correlation is poor for the period before 1970, the heat content anomaly of the warm pool after 1970 is used to indicate early or late onset of the SCSSM beforehand. An ideal representative area (1A degrees x1A degrees) for the warm pool heat content was determined with its center at 3A degrees N/138A degrees E. The nearest TAO (TAO-Tropical Atmosphere Ocean-array) mooring to the center is at 2A degrees N/137A degrees E, and chosen to calculate the heat content for prediction. It is suggested that the TAO mooring at 2A degrees N/137A degrees E could be used to predict the SCSSM onset with the heat content in the upper layer, if the correlation between the SCSSM onset and the heat content of the warm pool runs like that of after 1970. On the other hand, if the situation does like the one before 1970, the representative station is determined at 13A degrees S/74A degrees E with relatively poor correlation, meaning that the warm pool in the western Pacific Ocean plays more important role in the SCSSM onset than the Indian Ocean.

Late onset of huntington's disease

Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The clinical features resembled those of mid-life onset Huntington's disease but progressed more slowly. Neuropathological evaluation of two cases reveal less severe neuronal atrophy than for mid-life onset disease.

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted to identify SNPs that influence disease predisposition. These studies have confirmed the well-known APOE epsilon4 risk allele, identified a novel variant that influences disease risk within the APOE epsilon4 population, found a SNP that modifies the age of disease onset, as well as reported the first sex-linked susceptibility variant. Here we report a genome-wide scan of Alzheimer's disease in a set of 331 cases and 368 controls, extending analyses for the first time to include assessments of copy number variation. In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation.

Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study.

Association studies of quantitative traits have often relied on methods in which a normal distribution of the trait is assumed. However, quantitative phenotypes from complex human diseases are often censored, highly skewed, or contaminated with outlying values. We recently developed a rank-based association method that takes into account censoring and makes no distributional assumptions about the trait. In this study, we applied our new method to age-at-onset data on ALDX1 and ALDX2. Both traits are highly skewed (skewness > 1.9) and often censored. We performed a whole genome association study of age at onset of the ALDX1 trait using Illumina single-nucleotide polymorphisms. Only slightly more than 5% of markers were significant. However, we identified two regions on chromosomes 14 and 15, which each have at least four significant markers clustering together. These two regions may harbor genes that regulate age at onset of ALDX1 and ALDX2. Future fine mapping of these two regions with densely spaced markers is warranted.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previously demonstrated the benefit of increased CI-MPR-mediated uptake of recombinant human acid-α-glucosidase during ERT in mice with Pompe disease following addition of albuterol therapy. Currently we have completed a pilot study of albuterol in patients with late-onset Pompe disease already on ERT for >2 yr, who were not improving further. The 6-min walk test (6MWT) distance increased in all 7 subjects at wk 6 (30±13 m; P=0.002), wk 12 (34±14 m; P=0.004), and wk 24 (42±37 m; P=0.02), in comparison with baseline. Grip strength was improved significantly for both hands at wk 12. Furthermore, individual subjects reported benefits; e.g., a female patient could stand up from sitting on the floor much more easily (time for supine to standing position decreased from 30 to 11 s), and a male patient could readily swing his legs out of his van seat (hip abduction increased from 1 to 2+ on manual muscle testing). Finally, analysis of the quadriceps biopsies suggested increased CI-MPR at wk 12 (P=0.08), compared with baseline. With the exception of 1 patient who succumbed to respiratory complications of Pompe disease in the first week, only mild adverse events have been reported, including tremor, transient difficulty falling asleep, and mild urinary retention (requiring early morning voiding). Therefore, this pilot study revealed initial safety and efficacy in an open label study of adjunctive albuterol therapy in patients with late-onset Pompe disease who had been stable on ERT with no improvements noted over the previous several years.