Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses

Purpose: To investigate the involvement of SPARC (secreted protein acidic and rich in cysteine) mutations and copy number variation in juvenile-onset primary open-angle glaucoma (JPOAG). Methods: This study involved the 27 family members from the GLC1M (glaucoma 1, open angle, M)-linked Philippine pedigree with JPOAG, 46 unrelated Chinese patients with JPOAG and 95 controls. Mutation screening of the SPARC sequence, covering the promoter, 5′-untranslated region (UTR), entire coding regions, exon-intron boundaries, and part of the 3′-UTR, was performed using polymerase chain reaction and direct DNA sequencing. Copy number of the gene was analyzed by three TaqMan copy number assays. Results: No putative SPARC mutation was detected in the Philippine family. In the Chinese participants, 11 sequence variants were detected. Two were novel: IVS2+8G>T and IVS2+32C>T. For the 9 known SNPs, one was synonymous (rs2304052, p.Glu22Glu) and the others were located in noncoding regions. No individual SNP was associated with JPOAG. Five of the most common SNPs, i.e., rs2116780, rs1978707, rs7719521, rs729853, and rs1053411, were contained in a LD (linkage disequilibrium) block. Haplotype-based analysis showed that no haplotype was associated with the disorder. Copy number analysis revealed that all study subjects had two copies of the gene, suggesting no correlation between the copy number of SPARC and JPOAG. Conclusions: We have excluded SPARC as the causal gene at the GLC1M locus in the Philippine pedigree and, for the first time, revealed that the coding sequences, splice sites and copy number of SPARC do not contribute to JPOAG. Further investigations are warranted to unravel the involvement of SPARC in the pathogenesis of other forms of glaucoma

SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma

Purpose: To investigate the associations between gene variants in cholesterol 24S-hydroxylase (CYP46A1), LIM homeobox transcription factor 1-beta (LMX1B), plexin domain containing 2 (PLXDC2), toll-like receptor 4 (TLR4), transmembrane and tetratricopeptide repeat containing 2 (TMTC2), zona pellucida glycoprotein 4 (ZP4), chromosome 2p16.3, and primary open-angle glaucoma (POAG). Methods: We studied 462 POAG patients and 577 controls from three cohorts (Hong Kong, Shantou, and Beijing, China). Twelve single-nucleotide polymorphisms (SNPs) were genotyped in the Hong Kong cohort using TaqMan genotyping assay. Significant associations were validated in the Shantou and Beijing cohorts. Results: Association of POAG with TLR4 rs7037117, in a recessive model, was identified in the Hong Kong and Shantou cohorts (both southern Chinese, $p_{rec}$=0.0019) but not the Beijing cohort (northern Chinese). rs1533428 at chromosome 2p16.3 showed a consistent trend of age-specific association in all three cohorts. Genotypes TT + CT conferred a 2.16 fold of significantly increased risk to late-onset POAG ($p_{dom}$=0.00025), but no significant risk to POAG of younger ages of onset in the combined cohort. A joint effect was found between rs7037117 and rs1533428, with carriers of both higher-risk genotypes having a 4.53 fold of increased disease risk (p=0.00028). Conclusions: Our study reveals discrepant association patterns of 12 candidate SNPs in 7 genes/loci with POAG in Chinese, provides positive replications for POAG markers rs1533428 at 2p16.3 and TLR4 rs7037117, and suggests that rs1533428 is a putative risk variant for late-onset POAG. The identification of an age-specific association between rs1533428 and late-onset POAG highlights a new genotype-phenotype association in POAG. Further studies are warranted to confirm the age-specific association

A Phenomenological Analysis of Gluon Mass Effects in Inclusive Radiative Decays of the J/ψ\rm{J/\psi} and $\Upsilon

The shapes of the inclusive photon spectra in the processes \Jp \to \gamma X and \Up \to \gamma X have been analysed using all available experimental data. Relativistic, higher order QCD and gluon mass corrections were taken into account in the fitted functions. Only on including the gluon mass corrections, were consistent and acceptable fits obtained. Values of $0.721^{+0.016}_{-0.068}$ GeV and $1.18^{+0.09}_{-0.29}$ GeV were found for the effective gluon masses (corresponding to Born level diagrams) for the \Jp and \Up respectively. The width ratios \Gamma(V \to {\rm hadrons})/\Gamma(V \to \gamma+ {\rm hadrons}) V=\Jp, \Up were used to determine $\alpha_s(1.5 {\rm GeV})$ and $\alpha_s(4.9 {\rm GeV})$. Values consistent with the current world average $\alpha_s$ were obtained only when gluon mass correction factors, calculated using the fitted values of the effective gluon mass, were applied. A gluon mass $\simeq 1$ GeV, as suggested with these results, is consistent with previous analytical theoretical calculations and independent phenomenological estimates, as well as with a recent, more accurate, lattice calculation of the gluon propagator in the infra-red region.Comment: 50 pages, 11 figures, 15 table

The Yuan-Tseh Lee Array for Microwave Background Anisotropy

The Yuan-Tseh Lee Array for Microwave Background Anisotropy (AMiBA) is the first interferometer dedicated to studying the cosmic microwave background (CMB) radiation at 3mm wavelength. The choice of 3mm was made to minimize the contributions from foreground synchrotron radiation and Galactic dust emission. The initial configuration of seven 0.6m telescopes mounted on a 6-m hexapod platform was dedicated in October 2006 on Mauna Loa, Hawaii. Scientific operations began with the detection of a number of clusters of galaxies via the thermal Sunyaev-Zel'dovich effect. We compare our data with Subaru weak lensing data in order to study the structure of dark matter. We also compare our data with X-ray data in order to derive the Hubble constant.Comment: accepted for publication in ApJ (13 pages, 7 figures); a version with high resolution figures available at http://www.asiaa.sinica.edu.tw/~keiichi/upfiles/AMiBA7/pho_highreso.pd

Color-Octet J/ψJ/\psi Production in the Υ\Upsilon Decay

The direct production rate of $\psi$ in the $\Upsilon$ decay is shown to be dominated by the process $\Upsilon \to ggg^*$ followed by $g^* \to \psi$ via the color-octet mechanism proposed recently to explain the anomalous prompt charmonium production at the Tevatron. We show that this plausibly dominant process has a branching ratio compatible with the experimental data. Further experimental study in this channel is important to test the significance of the color-octet component of $c\bar c$ pair inside the $\psi$ system.Comment: 20 pages, Standard LaTeX, 2 figures; a couple of new processes added, but conclusion unchange

Dynamic Analysis of Rotor Flex-beams Based on Nonlinear Anisotropic Shell Models

An anisotropic shallow shell model is developed that accommodates transverse shearing deformations, and arbitrarily large displacements and rotations, but strains are assumed to remain small. The kinematic model developed in this paper uses three degrees of freedom to locate the direction of the normal to the shell's midplane. This model allows for an automatic compatibility of the shell model with beam models. The shell model is validated by comparing its predictions with several benchmark problems. The shell model of the flexbeam is shown to give very different results when compared to beam models. The lead-lag and torsion modes in particular are strongly affected, whereas flapping modes seem to be less affected

Preparation of a cobalt-containing P,N-bidentate ligand ligated palladium complex: Its applications in amination and Suzuki cross-coupling reactions

A cobalt-containing P,N-ligand, alkyne-bridged dicobalt phosphine [(mu-PPh(2)CH(2)PPh(2))Co(2)(CO)(4) (mu,eta-Me(2)NCH(2)C = CP(Cy)(2))] (4c), was prepared from the reaction of Me(2)NCH(2)C = CPR(2) (2c) with a dppm-bridged dicobalt complex [Co(2)(CO)(6)(mu-P,P-PPh(2)CH(2)PPh(2))] (3). Further reaction of 4c with Pd(COD)Cl(2) gave a 4c-chelated palladium dichloride complex (mu-PPh(2)CH(2)PPh(2))Co(2)(CO)(4) (mu,eta-Cy(2)PC = CCH(2)NMe(2))- PdCl(2) (5c). Compound 5c was characterized by spectroscopic methods and crystal structure of 5c was determined by single-crystal X-ray diffraction techniques. It shows that 4c is an authentic cobalt-containing P,N-bidentate ligand. Amination and Suzuki reactions employing either a 4c/palladium salt system or an isolated 5c as the catalytic precursor led to satisfactory results. (c) 2009 Elsevier B.V. All rights reserved