Human earwax consists of wet and dry types. Dry earwax is frequent in East Asians, whereas wet earwax is common in other populations. Here we show that a SNP, 538G --> A (rs17822931), in the ABCC11 gene is responsible for determination of earwax type. The AA genotype corresponds to dry earwax, and GA and GG to wet type. A 27-bp deletion in ABCC11 exon 29 was also found in a few individuals of Asian ancestry. A functional assay demonstrated that cells with allele A show a lower excretory activity for cGMP than those with allele G. The allele A frequency shows a north-south and east-west downward geographical gradient; worldwide, it is highest in Chinese and Koreans, and a common dry-type haplotype is retained among various ethnic populations. These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait.
At ambient pressure, the hydrogen bond in materials such as ice, hydrates, and hydrous minerals that compose the Earth and icy planets generally takes an asymmetric O-H···O configuration. Pressure significantly affects this configuration, and it is predicted to become symmetric, such that the hydrogen is centered between the two oxygen atoms at high pressure. Changes of physical properties of minerals relevant to this symmetrization have been found; however, the atomic configuration around this symmetrization has remained elusive so far. Here we observed the pressure response of the hydrogen bonds in the aluminous hydrous minerals δ-AlOOH and δ-AlOOD by means of a neutron diffraction experiment. We find that the transition from P21nm to Pnnm at 9.0 GPa, accompanied by a change in the axial ratios of δ-AlOOH, corresponds to the disorder of hydrogen bond between two equivalent sites across the center of the O···O line. Symmetrization of the hydrogen bond is observed at 18.1 GPa, which is considerably higher than the disorder pressure. Moreover, there is a significant isotope effect on hydrogen bond geometry and transition pressure. This study indicates that disorder of the hydrogen bond as a precursor of symmetrization may also play an important role in determining the physical properties of minerals such as bulk modulus and seismic wave velocities in the Earth’s mantle.
Water freezes below 0 °C at ambient pressure, ordinarily to ice Ih with an ABAB… hexagonal stacking sequence. However, it is also known to produce "ice Ic" nominally with an ABCABC… cubic stacking sequence under certain conditions 1 , and its existence in Earth's atmosphere 2-4 , or in comets 5,6 is debated. "Ice Ic", or called as cubic ice, was first identified in 1943 by König 7 , who used electron microscopy to study the condensation of ice from water vapor to a cold substrate. Subsequently, many different routes to "ice Ic" have been established, such as the dissociation of gas hydrates, warming amorphous ices or annealing high-pressure ices recovered at ambient pressure, freezing of μ-or nano-confined water (see refs in 1 ). Despite the numerous studies on "ice Ic", its structure has not been fully verified, because the diffraction patterns of "ice Ic" show signatures of stackingdisorder 1,8 , and ideal ice Ic without stacking-disorder had not been formed until very recently 9 . Here we demonstrate a route to obtain ice Ic without stacking-disorder by degassing hydrogen from the high-pressure form of hydrogen hydrate, C2, which has a host framework that is isostructural with ice Ic 10 . Surprisingly, the stacking-disorder free ice Ic is formed from C2 via an intermediate amorphous or nano-crystalline form under decompression, unlike the direct transformations that occur in the cases of recently discovered ice XVI 11 from neon hydrate, or ice XVII 12 from hydrogen hydrate. The obtained ice Ic shows remarkable thermal stability until the phase transition to ice Ih at 250 K; this thermal stability originates from the lack of dislocations, which promote changes in the stacking sequence 13 . This discovery of ideal ice Ic will promote understanding of the role of stacking-disorder 14 on the physical properties of ice as a counter end-member of ice Ih. * D1 belongs to a water molecule in the host structure. ** D2 belongs to the guest deuterium molecule. Uiso(D2) is constrained to be the same value as Uiso(D1), because of the severe correlation between atomic coordinates and occupancies.
Most ice polymorphs have order–disorder “pairs” in terms of hydrogen positions, which contributes to the rich variety of ice polymorphs; in fact, three recently discovered polymorphs— ices XIII, XIV, and XV—are ordered counter forms to already identified disordered phases. Despite the considerable effort to understand order–disorder transition in ice crystals, there is an inconsistency among the various experiments and calculations for ice XV, the ordered counter form of ice VI, i.e., neutron diffraction observations suggest antiferroelectrically ordered structures, which disagree with dielectric measurement and theoretical studies, implying ferroelectrically ordered structures. Here we investigate in-situ neutron diffraction measurements and density functional theory calculations to revisit the structure and stability of ice XV. We find that none of the completely ordered configurations are particular favored; instead, partially ordered states are established as a mixture of ordered domains in disordered ice VI. This scenario in which several kinds of ordered configuration coexist dispels the contradictions in previous studies. It means that the order–disorder pairs in ice polymorphs are not one-to-one correspondent pairs but rather have one-to-n correspondence, where there are n possible configurations at finite temperature.
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