0000000000248790
AUTHOR
G. A. Williams
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) 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 photore…
Adaptations to thermal variation in two Mediterranean limpets - cardiac response and haemocyte lysosomal stability
Patella rustica and Patella caerulea are two congeneric limpet species, both occurring along the rocky shores of the Mediterranean but on different tidal heights. P. rustica is dominant in the upper intertidal zone while P. caerulea is more abundant in the lower part of the same zone. Understanding variations in physiological adaptations to thermal stress is vital when investigating intertidal species' distribution. Hence, to investigate the relationship between their physiological thermal tolerance and intertidal zonation, laboratory experiments were designed to test the hypothesis that the lower zoned P. caerulea has reduced upper thermal limits when compared with higher zoned P. rustica,…