Abstracts from the 50th European Society of Human Genetics Conference: Posters

International audienc

Whole-Genome Sequencing of Sake Yeast Saccharomyces cerevisiae Kyokai no. 7

The term ‘sake yeast’ is generally used to indicate the Saccharomyces cerevisiae strains that possess characteristics distinct from others including the laboratory strain S288C and are well suited for sake brewery. Here, we report the draft whole-genome shotgun sequence of a commonly used diploid sake yeast strain, Kyokai no. 7 (K7). The assembled sequence of K7 was nearly identical to that of the S288C, except for several subtelomeric polymorphisms and two large inversions in K7. A survey of heterozygous bases between the homologous chromosomes revealed the presence of mosaic-like uneven distribution of heterozygosity in K7. The distribution patterns appeared to have resulted from repeated losses of heterozygosity in the ancestral lineage of K7. Analysis of genes revealed the presence of both K7-acquired and K7-lost genes, in addition to numerous others with segmentations and terminal discrepancies in comparison with those of S288C. The distribution of Ty element also largely differed in the two strains. Interestingly, two regions in chromosomes I and VII of S288C have apparently been replaced by Ty elements in K7. Sequence comparisons suggest that these gene conversions were caused by cDNA-mediated recombination of Ty elements. The present study advances our understanding of the functional and evolutionary genomics of the sake yeast

Genome-organizing factors Top2 and Hmo1 prevent chromosome fragility at sites of S phase transcription

Specialized topoisomerases solve the topological constraints arising when replication forks encounter transcription. We have investigated the contribution of Top2 in S phase transcription. Specifically in S phase, Top2 binds intergenic regions close to transcribed genes. The Top2-bound loci exhibit low nucleosome density and accumulate gammaH2A when Top2 is defective. These intergenic loci associate with the HMG protein Hmo1 throughout the cell cycle and are refractory to the histone variant Htz1. In top2 mutants, Hmo1 is deleterious and accumulates at pericentromeric regions in G2/M. Our data indicate that Top2 is dispensable for transcription and that Hmo1 and Top2 bind in the proximity of genes transcribed in S phase suppressing chromosome fragility at the M-G1 transition. We propose that an Hmo1-dependent epigenetic signature together with Top2 mediate an S phase architectural pathway to preserve genome integrity

Deuteron and antideuteron production in Au+Au collisions at sqrt(s_NN)=200 GeV

The production of deuterons and antideuterons in the transverse momentum range 1.1 < p_T < 4.3 GeV/c at mid-rapidity in Au + Au collisions at sqrt(s_NN)=200 GeV has been studied by the PHENIX experiment at RHIC. A coalescence analysis comparing the deuteron and antideuteron spectra with those of protons and antiprotons, has been performed. The coalescence probability is equal for both deuterons and antideuterons and increases as a function of p_T, which is consistent with an expanding collision zone. Comparing (anti)proton yields p_bar/p = 0.73 +/- 0.01, with (anti)deuteron yields: d_bar/d = 0.47 +/- 0.03, we estimate that n_bar/n = 0.64 +/- 0.04.Comment: 326 authors, 6 pages text, 5 figures, 1 Table. Submitted to PRL. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm

Mid-Rapidity Direct-Photon Production in p+p Collisions at sqrt(s) = 200 GeV

A measurement of direct photons in p+p collisions at sqrt(s)=200 GeV is presented. A photon excess above background from pi^0 --> gamma+gamma, eta --> gamma+gamma, and other decays is observed in the transverse momentum range 5.5 < p_T < 7 GeV/c. The result is compared to a next-to-leading-order perturbative QCD calculation. Within errors, good agreement is found between the QCD calculation and the measured result.Comment: 330 authors, 7 pages text, RevTeX, 2 figures, 2 tables. Submitted to Physical Review D. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm

Suppressed pi^0 Production at Large Transverse Momentum in Central Au+Au Collisions at sqrt(s_NN) = 200 GeV

Transverse momentum spectra of neutral pions in the range 1 < p_T < 10 GeV/c have been measured at mid-rapidity by the PHENIX experiment at RHIC in Au+Au collisions at sqrt(s_NN) = 200 GeV. The pi^0 multiplicity in central reactions is significantly below the yields measured at the same sqrt(s_NN) in peripheral Au+Au and p+p reactions scaled by the number of nucleon-nucleon collisions. For the most central bin, the suppression factor is ~2.5 at p_T = 2 GeV/c and increases to ~4-5 at p_T ~= 4 GeV/c. At larger p_T, the suppression remains constant within errors. The deficit is already apparent in semi-peripheral reactions and increases smoothly with centrality.Comment: 326 authors, 6 pages text, RevTeX, 3 figures, 2 tables. Submitted to PRL. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm

Scaling properties of proton and anti-proton production in sqrt(s_NN) = 200 GeV Au + Au collisions

We report on the yield of protons and anti-protons, as a function of centrality and transverse momentum, in Au+Au collisions at sqrt(s_NN) = 200 GeV measured at mid-rapidity by the PHENIX experiment at RHIC. In central collisions at intermediate transverse momenta (1.5 < p_T < 4.5 GeV/c) a significant fraction of all produced particles are protons and anti-protons. They show a centrality-scaling behavior different from that of pions. The p-bar/pion and p/pion ratios are enhanced compared to peripheral Au+Au, p+p, and electron+positron collisions. This enhancement is limited to p_T < 5 GeV/c as deduced from the ratio of charged hadrons to pi^0 measured in the range 1.5 < p_T < 9 GeV/c.Comment: 325 authors, 6 pages text, 4 figures, RevTeX 4. Minor changes to text and figures to meet PRL length restrictions; no changes to figures; resubmitted to PRL. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm

J/Psi Production in Au-Au Collisions at sqrt(s_NN) = 200 GeV at the Relativistic Heavy Ion Collider

First results on charm quarkonia production in heavy ion collisions at the Relativistic Heavy Ion Collider (RHIC) are presented. The yield of J/Psi's measured in the PHENIX experiment via electron-positron decay pairs at mid-rapidity for Au-Au reactions at sqrt(s_NN) = 200 GeV are analyzed as a function of collision centrality. For this analysis we have studied 49.3 million minimum bias Au-Au reactions. We present the J/Psi invariant yield dN/dy for peripheral and mid-central reactions. For the most central collisions where we observe no signal above background, we quote 90% confidence level upper limits. We compare these results with our J/Psi measurement from proton-proton reactions at the same energy. We find that our measurements are not consistent with models that predict strong enhancement relative to binary collision scaling.Comment: 325 authors, 11 pages text, 6 figures, 4 tables, RevTeX 4. Accepted for publication as a regular article in Physical Review C. This version has minor changes to respond to referee suggestions. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are publicly available at http://www.phenix.bnl.gov/papers.htm

Heavy Quarks and Heavy Quarkonia as Tests of Thermalization

We present here a brief summary of new results on heavy quarks and heavy quarkonia from the PHENIX experiment as presented at the "Quark Gluon Plasma Thermalization" Workshop in Vienna, Austria in August 2005, directly following the International Quark Matter Conference in Hungary.Comment: 8 pages, 5 figures, Quark Gluon Plasma Thermalization Workshop (Vienna August 2005) Proceeding

Measurement of Single Muons at Forward Rapidity in p+p Collisions at sqrt(s) = 200 GeV and Implications for Charm Production

Muon production at forward rapidity (1.5 < |\eta| < 1.8) has been measured by the PHENIX experiment over the transverse momentum range 1 < p_T \le 3 GeV/c in sqrt(s) = 200 GeV p+p collisions at the Relativistic Heavy Ion Collider. After statistically subtracting contributions from light hadron decays an excess remains which is attributed to the semileptonic decays of hadrons carrying heavy flavor, i.e. charm quarks or, at high p_T, bottom quarks. The resulting muon spectrum from heavy flavor decays is compared to PYTHIA and a next-to-leading order perturbative QCD calculation. PYTHIA is used to determine the charm quark spectrum that would produce the observed muon excess. The corresponding differential cross section for charm quark production at forward rapidity is determined to be d\sigma_(c c^bar)/dy|_(y=1.6)=0.243 +/- 0.013 (stat.) +/- 0.105 (data syst.) ^(+0.049)_(-0.087) (PYTHIA syst.) mb.Comment: 329 authors, pages text, 18 figures, tables. Submitted to Physical Review D. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm