144 research outputs found
The outer halos of elliptical galaxies
Recent progress is summarized on the determination of the density
distributions of stars and dark matter, stellar kinematics, and stellar
population properties, in the extended, low surface brightness halo regions of
elliptical galaxies. With integral field absorption spectroscopy and with
planetary nebulae as tracers, velocity dispersion and rotation profiles have
been followed to ~4 and ~5-8 effective radii, respectively, and in M87 to the
outer edge at ~150 kpc. The results are generally consistent with the known
dichotomy of elliptical galaxy types, but some galaxies show more complex
rotation profiles in their halos and there is a higher incidence of
misalignments, indicating triaxiality. Dynamical models have shown a range of
slopes for the total mass profiles, and that the inner dark matter densities in
ellipticals are higher than in spiral galaxies, indicating earlier assembly
redshifts. Analysis of the hot X-ray emitting gas in X-ray bright ellipticals
and comparison with dynamical mass determinations indicates that non-thermal
components to the pressure may be important in the inner ~10 kpc, and that the
properties of these systems are closely related to their group environments.
First results on the outer halo stellar population properties do not yet give a
clear picture. In the halo of one bright galaxy, lower [alpha/Fe] abundances
indicate longer star formation histories pointing towards late accretion of the
halo. This is consistent with independent evidence for on-going accretion, and
suggests a connection to the observed size evolution of elliptical galaxies
with redshift.Comment: 8 pages. Invited review to appear in the proceedings of "Galaxies and
their Masks" eds. Block, D.L., Freeman, K.C. & Puerari, I., 2010, Springer
(New York
Prediction of in a Conformal Approach to Coupling Unification
The possibility that non-supersymmetric conformal field theories softly
broken below 100 TeV may provide an alternative to conventional grand
unification is explored. We consider a low energy theory presumed to be of this
type arising from the Type IIB superstring compactified on a space whose gauge group and the particle content are severely
restricted by the compactification process. We present an example of a
resulting with three generations, which
leads to coupling unification and a prediction for
and other phenomenology generally consistent with observations.Comment: 9 pages LaTe
Black hole thermodynamical entropy
As early as 1902, Gibbs pointed out that systems whose partition function
diverges, e.g. gravitation, lie outside the validity of the Boltzmann-Gibbs
(BG) theory. Consistently, since the pioneering Bekenstein-Hawking results,
physically meaningful evidence (e.g., the holographic principle) has
accumulated that the BG entropy of a black hole is
proportional to its area ( being a characteristic linear length), and
not to its volume . Similarly it exists the \emph{area law}, so named
because, for a wide class of strongly quantum-entangled -dimensional
systems, is proportional to if , and to if
, instead of being proportional to (). These results
violate the extensivity of the thermodynamical entropy of a -dimensional
system. This thermodynamical inconsistency disappears if we realize that the
thermodynamical entropy of such nonstandard systems is \emph{not} to be
identified with the BG {\it additive} entropy but with appropriately
generalized {\it nonadditive} entropies. Indeed, the celebrated usefulness of
the BG entropy is founded on hypothesis such as relatively weak probabilistic
correlations (and their connections to ergodicity, which by no means can be
assumed as a general rule of nature). Here we introduce a generalized entropy
which, for the Schwarzschild black hole and the area law, can solve the
thermodynamic puzzle.Comment: 7 pages, 2 figures. Accepted for publication in EPJ
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation
Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy
Introduction: Tumor lymphocyte infiltration is associated with clinical response to chemotherapy in estrogen receptor (ER) negative breast cancer. To identify variants in immunosuppressive pathway genes associated with prognosis after adjuvant chemotherapy for ER-negative patients, we studied stage I-III invasive breast cancer patients of European ancestry, including 9,334 ER-positive (3,151 treated with chemotherapy) and 2,334 ER-negative patients (1,499 treated with chemotherapy). Methods: We pooled data from sixteen studies from the Breast Cancer Association Consortium (BCAC), and employed two independent studies for replications. Overall 3,610 single nucleotide polymorphisms (SNPs) in 133 genes were genotyped as part of the Collaborative Oncological Gene-environment Study, in which phenotype and clinical data were collected and harmonized. Multivariable Cox proportional hazard regression was used to assess genetic associations with overall survival (OS) and breast
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy
Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204-A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10 â ̂'9). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. METHODS: We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. RESULTS: The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). CONCLUSIONS: These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.The COGS project is funded through a European Commission's Seventh Framework Programme grant
(agreement number 223175 - HEALTH-F2-2009-223175). BCAC is funded by Cancer Research UK
[C1287/A10118, C1287/A12014] and by the European Community´s Seventh Framework Programme under
grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS
infrastructure came from: the European Community's Seventh Framework Programme under grant agreement
n° 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710,
C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the
National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19
16
CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defense (W81XWH-10-1-
0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast
Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer
Research Fund. This study made use of data generated by the Wellcome Trust Case Control consortium.
Funding for the project was provided by the Wellcome Trust under award 076113. The results published here
are in part based upon data generated by The Cancer Genome Atlas Project established by the National Cancer
Institute and National Human Genome Research Institute.This is the author accepted manuscript. The final version is available from BMJ Group at http://dx.doi.org/10.1136/jmedgenet-2015-103529
Size Doesn't Matter: Towards a More Inclusive Philosophy of Biology
notes: As the primary author, O’Malley drafted the paper, and gathered and analysed data (scientific papers and talks). Conceptual analysis was conducted by both authors.publication-status: Publishedtypes: ArticlePhilosophers of biology, along with everyone else, generally perceive life to fall into two broad categories, the microbes and macrobes, and then pay most of their attention to the latter. ‘Macrobe’ is the word we propose for larger life forms, and we use it as part of an argument for microbial equality. We suggest that taking more notice of microbes – the dominant life form on the planet, both now and throughout evolutionary history – will transform some of the philosophy of biology’s standard ideas on ontology, evolution, taxonomy and biodiversity. We set out a number of recent developments in microbiology – including biofilm formation, chemotaxis, quorum sensing and gene transfer – that highlight microbial capacities for cooperation and communication and break down conventional thinking that microbes are solely or primarily single-celled organisms. These insights also bring new perspectives to the levels of selection debate, as well as to discussions of the evolution and nature of multicellularity, and to neo-Darwinian understandings of evolutionary mechanisms. We show how these revisions lead to further complications for microbial classification and the philosophies of systematics and biodiversity. Incorporating microbial insights into the philosophy of biology will challenge many of its assumptions, but also give greater scope and depth to its investigations
- …