Aberrations of TACC1 and TACC3 are associated with ovarian cancer

BACKGROUND: Dysregulation of the human Transforming Acidic Coiled Coil (TACC) genes is thought to be important in the development and progression of multiple myeloma, breast and gastric cancer. Recent, large-scale genomic analysis and Serial Analysis of Gene Expression data suggest that TACC1 and TACC3 may also be involved in the etiology of ovarian tumors from both familial and sporadic cases. Therefore, the aim of this study was to determine the occurrence of alterations of these TACCs in ovarian cancer. METHODS: Detection and scoring of TACC1 and TACC3 expression was performed by immunohistochemical analysis of the T-BO-1 tissue/tumor microarray slide from the Cooperative Human Tissue Network, Tissue Array Research Program (TARP) of the National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Tumors were categorized as either positive (greater than 10% of cells staining) or negative. Statistical analysis was performed using Fisher's exact test and p < 0.05 (single comparisons), and p < 0.02 (multiple comparisons) were considered to be significant. Transgenomics WAVE high performance liquid chromatography (dHPLC) was used to pre-screen the TACC3 gene in constitutional DNA from ovarian cancer patients and their unaffected relatives from 76 families from the Gilda Radner Familial Ovarian Cancer Registry. All variant patterns were then sequenced. RESULTS: This study demonstrated absence of at least one or both TACC proteins in 78.5% (51/65) of ovarian tumors tested, with TACC3 loss observed in 67.7% of tumors. The distribution pattern of expression of the two TACC proteins was different, with TACC3 loss being more common in serous papillary carcinoma compared with clear cell carcinomas, while TACC1 staining was less frequent in endometroid than in serous papillary tumor cores. In addition, we identified two constitutional mutations in the TACC3 gene in patients with ovarian cancer from the Gilda Radner Familial Ovarian Cancer Registry. These patients had previously tested negative for mutations in known ovarian cancer predisposing genes. CONCLUSION: When combined, our data suggest that aberrations of TACC genes, and TACC3 in particular, underlie a significant proportion of ovarian cancers. Thus, TACC3 could be a hitherto unknown endogenous factor that contributes to ovarian tumorigenesis

Neuropsychological Correlates of Cystic Fibrosis in Patients 5 to 8 Years Old

Intellectual, academic, and neuropsychological tests were administered to 20 children with cystic fibrosis (CF). Results were compared to test results from 20 controls matched for gender, age, and socioeconomic status. No differences between the groups were found. For children with CF, Verbal IQ, sensory-perceptual skills, and incidental learning correlated (rs = .39-.67) with Shwachman criteria of disease severity, with significant positive relations with the Growth and Nutrition measure, an index of the severity of the disease. Processing of tactile-perceptual information may be particularly vulnerable to disease severity. This study provides more information than previously available on the neuropsychological status of young children with CF, and it offers some hypotheses regarding the relation between disease severity and neuropsychological function.published_or_final_versio

The Swift Ultra-Violet/Optical Telescope

The UV/Optical Telescope (UVOT) is one of three instruments flying aboard the Swift Gamma-ray Observatory. It is designed to capture the early (approximately 1 minute) UV and optical photons from the afterglow of gamma-ray bursts in the 170-600 nm band as well as long term observations of these afterglows. This is accomplished through the use of UV and optical broadband filters and grisms. The UVOT has a modified Ritchey-Chretien design with micro-channel plate intensified charged-coupled device detectors that record the arrival time of individual photons and provide sub-arcsecond positioning of sources. We discuss some of the science to be pursued by the UVOT and the overall design of the instrument.Comment: 55 Pages, 28 Figures, To be published in Space Science Review

The Neptune-Sized Circumbinary Planet Kepler-38B

We discuss the discovery and characterization of the circumbinary planet Kepler-38b. The stellar binary is single-lined, with a period of 18.8 days, and consists of a moderately evolved main-sequence star (M-A = 0.949+/-0.059 M-circle dot and R-A = 1.757+/-0.034 R-circle dot) paired with a low-mass star (M-B = 0.249+/-0.010 M-circle dot and R-B = 0.2724+/-0.0053 R-circle dot) in a mildly eccentric (e = 0.103) orbit. A total of eight transits due to a circumbinary planet crossing the primary star were identified in the Kepler light curve (using Kepler Quarters 1-11), from which a planetary period of 105.595+/-0.053 days can be established. A photometric dynamical model fit to the radial velocity curve and Kepler light curve yields a planetary radius of 4.35+/-0.11 R-circle plus, or equivalently 1.12+/-0.03 R-Nep. Since the planet is not sufficiently massive to observably alter the orbit of the binary from Keplerian motion, we can only place an upper limit on the mass of the planet of 122 M-circle dot(7.11 M-Nep or equivalently 0.384 M-Jup) at 95% confidence. This upper limit should decrease as more Kepler data become available.NASA, Science Mission DirectorateNASA NNX12AD23GNational Science Foundation AST-1109928, AST-0908642, AST-0645416, AST-1007992McDonald Observator

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead