A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility

Multiple sclerosis is a common disease with proven heritability, but, despite large-scale attempts, no underlying risk genes have been identified. Traditional linkage scans have so far identified only one risk haplotype for multiple sclerosis (at HLA on chromosome 6), which explains only a fraction of the increased risk to siblings. Association scans such as admixture mapping have much more power, in principle, to find the weak factors that must explain most of the disease risk. We describe here the first high-powered admixture scan, focusing on 605 African American cases and 1,043 African American controls, and report a locus on chromosome 1 that is significantly associated with multiple sclerosis.     

An integrated view of the chemistry and mineralogy of martian soils

The mineralogical and elemental compositions of the martian soil are indicators of chemical and physical weathering processes. Using data from the Mars Exploration Rovers, we show that bright dust deposits on opposite sides of the planet are part of a global unit and not dominated by the composition of local rocks. Dark soil deposits at both sites have similar basaltic mineralogies, and could reflect either a global component or the general similarity in the compositions of the rocks from which they were derived. Increased levels of bromine are consistent with mobilization of soluble salts by thin films of liquid water, but the presence of olivine in analysed soil samples indicates that the extent of aqueous alteration of soils has been limited. Nickel abundances are enhanced at the immediate surface and indicate that the upper few millimetres of soil could contain up to one per cent meteoritic material.     

The scientific dimensions of social knowledge and their distant echoes in 20th-century American philosophy of science

The widespread impression that recent philosophy of science has pioneered exploration of the “social dimensions of scientific knowledge” is shown to be in error, partly due to a lack of appreciation of historical precedent, and partly due to a misunderstanding of how the social sciences and philosophy have been intertwined over the last century. This paper argues that the referents of “democracy” are an important key in the American context, and that orthodoxies in the philosophy of science tend to be molded by the actual regimes of science organization within which they are embedded. These theses are illustrated by consideration of three representative philosophers of science: John Dewey, Hans Reichenbach, and Philip Kitcher.     

Elektrophysiologische Untersuchungen über die Ultraviolettempfindlichkeit von Insektenaugen

Summary Using the electroretinogram, the relative spectral sensitivity of the compound eye of the cockroachPeriplaneta americana and the flyCalliphora erythrocephala has been measured between 347 and 673 m μ. Besides the well known sensitivity distribution for spectral lights between red and blue, a further rise of sensitivity is demonstrated in the violet and ultraviolet part of the spectrum, reaching the highest value at the shortest wavelength available. Using selective adaptation (P. am.) and different stimulus intensities (C. er.), sensitivities for ultraviolet light were shown to be independent from those in the remaining part of the spectrum. Thus, more than one photopigment are assumed to be present in these eyes, one of them responsible for vision in the ultraviolet.

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Mit Unterstützung der Deutschen Forschungsgemeinschaft.     

Mice heterozygous for mutation in Atm,the gene involved in ataxia-telangiectasia,have heightened susceptibility to cancer

Ataxia-telangiectasia is characterized by radiosensitivity, genome instability and predisposition to cancer. Heterozygous carriers of ATM, the gene defective in ataxia-telangiectasia, have a higher than normal risk of developing breast and other cancers. We demonstrate here that Atm 'knock-in' (Atm-Delta SRI) heterozygous mice harboring an in-frame deletion corresponding to the human 7636del9 mutation show an increased susceptibility to developing tumors. In contrast, no tumors are observed in Atm knockout (Atm(+/-)) heterozygous mice. In parallel, we report the appearance of tumors in 6 humans from 12 families who are heterozygous for the 7636del9 mutation. Expression of ATM cDNA containing the 7636del9 mutation had a dominant-negative effect in control cells, inhibiting radiation-induced ATM kinase activity in vivo and in vitro. This reduces the survival of these cells after radiation exposure and enhances the level of radiation-induced chromosomal aberrations. These results show for the first time that mouse carriers of a mutated Atm that are capable of expressing Atm have a higher risk of cancer. This finding provides further support for cancer predisposition in human ataxia-telangiectasia carriers.     

Absolute-phase phenomena in photoionization with few-cycle laser pulses.

Currently, the shortest laser pulses that can be generated in the visible spectrum consist of fewer than two optical cycles (measured at the full-width at half-maximum of the pulse's envelope). The time variation of the electric field in such a pulse depends on the phase of the carrier frequency with respect to the envelope-the absolute phase. Because intense laser-matter interactions generally depend on the electric field of the pulse, the absolute phase is important for a number of nonlinear processes. But clear evidence of absolute-phase effects has yet to be detected experimentally, largely because of the difficulty of stabilizing the absolute phase in powerful laser pulses. Here we use a technique that does not require phase stabilization to demonstrate experimentally the influence of the absolute phase of a short laser pulse on the emission of photoelectrons. Atoms are ionized by a short laser pulse, and the photoelectrons are recorded with two opposing detectors in a plane perpendicular to the laser beam. We detect an anticorrelation in the shot-to-shot analysis of the electron yield.