Identification of ten loci associated with height highlights new biological pathways in human growth

Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly identified and two previously reported loci were strongly associated with variation in height (P values from 4 x 10(-7) to 8 x 10(-22)). Together, these 12 loci account for approximately 2% of the population variation in height. Individuals with < or =8 height-increasing alleles and > or =16 height-increasing alleles differ in height by approximately 3.5 cm. The newly identified loci, along with several additional loci with strongly suggestive associations, encompass both strong biological candidates and unexpected genes, and highlight several pathways (let-7 targets, chromatin remodeling proteins and Hedgehog signaling) as important regulators of human stature. These results expand the picture of the biological regulation of human height and of the genetic architecture of this classical complex trait.     

Deformed autoregulatory element from Drosophila functions in a conserved manner in transgenic mice.

The striking similarities in the structure, organization and anterior-posterior expression patterns between the murine Hox gene system and the Drosophila homeotic gene complexes, called HOM-C (ref. 3), may point to highly conserved mechanisms for specifying positional identities (reviewed in ref. 4). Strong support for this concept lies in the observation of conserved colinearity between the genomic order of the Hox/HOM genes and their unique successive expression domains along the anterior-posterior axes of both mouse and fly embryos. These unique and precise expression patterns appear to be facilitated by multiple cis-regulatory elements (reviewed in ref. 5). One of the few elements characterized in detail is the autoregulatory enhancer of the homeotic gene Deformed (Dfd), which supports expression in subregions of posterior head segments of Drosophila embryos. Here we present evidence that this enhancer is capable of conferring reporter gene expression to a discrete subregion of the hindbrain in transgenic mouse embryos. Remarkably, this anterior-posterior subregion lies within the common anterior expression domain of the Dfd cognate Hox genes in the postotic hindbrain. Our results indicate that the Dfd autoregulatory enhancer is part of a highly conserved mechanism for establishing region-specific gene expression along the anterior-posterior axis of the embryo.     

The effect of microcytosis on red cell constituents

Zusammenfassung Der Gehalt an Riboflavin, Azetylcholin-Esterase, Glutamat-Oxalacetat-Transaminase, Glutamat-Pyruvat-Transaminase und Folinsäure wurde in menschlichen Erythrozyten verschiedener Grössenordnung bestimmt. Die Ergebnisse sprechen dafür, dass ihre intrazelluläre Konzentration, im Gegensatz zu derjenigen des Hämoglobins, keinen limitierenden Einfluss auf die Fortdauer der Synthese dieser Stoffe ausübt.

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This work was supported by grants from Tenovus and the Endowment Fund of the United Cardiff Hospitals.     

Cone monochromacy and a reversed Purkinje shift in the gerbil

Retinal spectral sensitivity of the gerbil (Meriones unguiculatus) shows that this animal has a unique photoreceptor complement: there is only a single class of cone and the spectrum for these receptors is peak shifted toward the short wavelengths relative to the spectra obtained from rods.