Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.     

Turing and the Serendipitous Discovery of the Modern Computer

In the centenary year of Turing’s birth, a lot of good things are sure to be written about him. But it is hard to find something new to write about Turing. This is the biggest merit of this article: it shows how von Neumann’s architecture of the modern computer is a serendipitous consequence of the universal Turing machine, built to solve a logical problem.     

Revised rates for the stellar triple-alpha process from measurement of 12C nuclear resonances

In the centres of stars where the temperature is high enough, three alpha-particles (helium nuclei) are able to combine to form 12C because of a resonant reaction leading to a nuclear excited state. (Stars with masses greater than approximately 0.5 times that of the Sun will at some point in their lives have a central temperature high enough for this reaction to proceed.) Although the reaction rate is of critical significance for determining elemental abundances in the Universe, and for determining the size of the iron core of a star just before it goes supernova, it has hitherto been insufficiently determined. Here we report a measurement of the inverse process, where a 12C nucleus decays to three alpha-particles. We find a dominant resonance at an energy of approximately 11 MeV, but do not confirm the presence of a resonance at 9.1 MeV (ref. 3). We show that interference between two resonances has important effects on our measured spectrum. Using these data, we calculate the triple-alpha rate for temperatures from 10(7) K to 10(10) K and find significant deviations from the standard rates. Our rate below approximately 5 x 10(7) K is higher than the previous standard, implying that the critical amounts of carbon that catalysed hydrogen burning in the first stars are produced twice as fast as previously believed. At temperatures above 10(9) K, our rate is much less, which modifies predicted nucleosynthesis in supernovae.     

Permanent El Niño during the Pliocene warm period not supported by coral evidence

The El Ni?o/Southern Oscillation (ENSO) system during the Pliocene warm period (PWP; 3-5 million years ago) may have existed in a permanent El Ni?o state with a sharply reduced zonal sea surface temperature (SST) gradient in the equatorial Pacific Ocean. This suggests that during the PWP, when global mean temperatures and atmospheric carbon dioxide concentrations were similar to those projected for near-term climate change, ENSO variability--and related global climate teleconnections-could have been radically different from that today. Yet, owing to a lack of observational evidence on seasonal and interannual SST variability from crucial low-latitude sites, this fundamental climate characteristic of the PWP remains controversial. Here we show that permanent El Ni?o conditions did not exist during the PWP. Our spectral analysis of the δ(18)O SST and salinity proxy, extracted from two 35-year, monthly resolved PWP Porites corals in the Philippines, reveals variability that is similar to present ENSO variation. Although our fossil corals cannot be directly compared with modern ENSO records, two lines of evidence suggest that Philippine corals are appropriate ENSO proxies. First, δ(18)O anomalies from a nearby live Porites coral are correlated with modern records of ENSO variability. Second, negative-δ(18)O events in the fossil corals closely resemble the decreases in δ(18)O seen in the live coral during El Ni?o events. Prior research advocating a permanent El Ni?o state may have been limited by the coarse resolution of many SST proxies, whereas our coral-based analysis identifies climate variability at the temporal scale required to resolve ENSO structure firmly.     

Late survival of Neanderthals at the southernmost extreme of Europe

The late survival of archaic hominin populations and their long contemporaneity with modern humans is now clear for southeast Asia. In Europe the extinction of the Neanderthals, firmly associated with Mousterian technology, has received much attention, and evidence of their survival after 35 kyr bp has recently been put in doubt. Here we present data, based on a high-resolution record of human occupation from Gorham's Cave, Gibraltar, that establish the survival of a population of Neanderthals to 28 kyr bp. These Neanderthals survived in the southernmost point of Europe, within a particular physiographic context, and are the last currently recorded anywhere. Our results show that the Neanderthals survived in isolated refuges well after the arrival of modern humans in Europe.     

Institutional Transformation of Public Private Partnership to Ensure Low Transaction Costs: Case Study of Infrastructure Provision at the Ministry of Public Works and Housing of the Republic of Indonesia

Systemic Practice and Action Research - This paper provides an example of reconstruction of Public-Private Partnership (PPP) as governance structure at the ministrial level, using a perspective of...     

Serendipity and the Discovery of DNA

This paper presents the manner in which the DNA, the molecule of life, was discovered. Unlike what many people, even biologists, believe, it was Johannes Friedrich Miescher who originally discovered and isolated nuclein, currently known as DNA, in 1869, 75 years before Watson and Crick unveiled its structure. Also, in this paper we show, and above all demonstrate, the serendipity of this major discovery. Like many of his contemporaries, Miescher set out to discover how cells worked by means of studying and analysing their proteins. During this arduous task, he detected an unexpected substance of unpredicted properties. This new substance precipitated when he added acid to the solution and it dissolved again when adding alkali. Unexpectedly and by a mere fluke, Miescher was the first person to obtain a DNA precipitate. The paper then presents the term serendipity and discusses how it has influenced the discovery of other important scientific milestones. Finally, we address the question of whether serendipitous discoveries can be nurtured and what role the computer could play in this process.