Evidence for enhanced mixing over rough topography in the abyssal ocean

The overturning circulation of the ocean plays an important role in modulating the Earth's climate. But whereas the mechanisms for the vertical transport of water into the deep ocean--deep water formation at high latitudes--and horizontal transport in ocean currents have been largely identified, it is not clear how the compensating vertical transport of water from the depths to the surface is accomplished. Turbulent mixing across surfaces of constant density is the only viable mechanism for reducing the density of the water and enabling it to rise. However, measurements of the internal wave field, the main source of energy for mixing, and of turbulent dissipation rates, have typically implied diffusivities across surfaces of equal density of only approximately 0.1 cm2 s(-1), too small to account for the return flow. Here we report measurements of tracer dispersion and turbulent energy dissipation in the Brazil basin that reveal diffusivities of 2-4 cm2 s(-1) at a depth of 500 m above abyssal hills on the flank of the Mid-Atlantic Ridge, and approximately 10 cm2 s(-1) nearer the bottom. This amount of mixing, probably driven by breaking internal waves that are generated by tidal currents flowing over the rough bathymetry, may be large enough to close the buoyancy budget for the Brazil basin and suggests a mechanism for closing the global overturning circulation.     

Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell trait

The hemoglobinopathies, disorders of hemoglobin structure and production, protect against death from malaria. In sub-Saharan Africa, two such conditions occur at particularly high frequencies: presence of the structural variant hemoglobin S and alpha(+)-thalassemia, a condition characterized by reduced production of the normal alpha-globin component of hemoglobin. Individually, each is protective against severe Plasmodium falciparum malaria, but little is known about their malaria-protective effects when inherited in combination. We investigated this question by studying a population on the coast of Kenya and found that the protection afforded by each condition inherited alone was lost when the two conditions were inherited together, to such a degree that the incidence of both uncomplicated and severe P. falciparum malaria was close to baseline in children heterozygous with respect to the mutation underlying the hemoglobin S variant and homozygous with respect to the mutation underlying alpha(+)-thalassemia. Negative epistasis could explain the failure of alpha(+)-thalassemia to reach fixation in any population in sub-Saharan Africa.     

Quantitative trait loci mapped to single-nucleotide resolution in yeast

Identifying the genetic variation underlying quantitative trait loci remains problematic. Consequently, our molecular understanding of genetically complex, quantitative traits is limited. To address this issue directly, we mapped three quantitative trait loci that control yeast sporulation efficiency to single-nucleotide resolution in a noncoding regulatory region (RME1) and to two missense mutations (TAO3 and MKT1). For each quantitative trait locus, the responsible polymorphism is rare among a diverse set of 13 yeast strains, suggestive of genetic heterogeneity in the control of yeast sporulation. Additionally, under optimal conditions, we reconstituted approximately 92% of the sporulation efficiency difference between the two genetically distinct parents by engineering three nucleotide changes in the appropriate yeast genome. Our results provide the highest resolution to date of the molecular basis of a quantitative trait, showing that the interaction of a few genetic variants can have a profound phenotypic effect.