Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. Using tandem affinity purification, we identified 24 proteins that link lebercilin to centrosomal and ciliary functions. Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA

Local controls on sediment accumulation and distribution in a fjord in the West Antarctic Peninsula: implications for palaeoenvironmental interpretations

We analyse surface sediment and its distribution in Flandres Bay, West Antarctic Peninsula, in order to understand modern day sediment dispersal patterns in a fjord with retreating, tidewater glaciers. The surface sediment descriptions of 41 cores are included in this study. The sediment facies described include muddy diatomaceous ooze, diatomaceous mud, pebbly mud, sandy mud and mud, with scattered pebbles present in most samples. In contrast to a traditional conceptual model of glacial sediment distribution in fjords, grain size in Flandres Bay generally coarsens from the inner to outer bay. The smallest grain size sediments were found in the bay head and are interpreted as fine-grained deposits resulting from meltwater plumes and sediment gravity flows occurring close to the glacier front. The middle of the bay is characterized by a high silt percentage, which correlates to diatom-rich sediments. Sediments in the outer bay have a high component of coarse material, which is interpreted as being the result of winnowing from currents moving from the Bellingshausen Sea into the Gerlache Strait. Palaeoenvironmental reconstructions of glacial environments often use grain size as an indicator of proximity to the ice margin. After a detailed analysis of a large number of cores collected in the study area, our findings highlight the variability in sedimentation patterns within a fjord and provide a valuable evidence of the complexity that may occur in the sedimentary record