Arrhythmogenic right ventricular cardiomyopathy (ARVD/C) is a genetically heterogeneous disease characterized by progressive degeneration of the right ventricular myocardium and increased risk of sudden death. Here, we report on a genome scan in one Italian family in which the disease appeared unlinked to any of the six different ARVD loci reported so far; we identify a mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin. It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs. Therefore, different DSP mutations might produce different clinical phenotypes, with different modes of inheritance.
The ostracod species Eucypris virens exhibits geographical parthenogenesis, with rare sexual populations in southern Europe and widespread asexual populations elsewhere. DNA sequence data from the nuclear ITS1 and mitochondrial COI regions have been used to estimate genetic variabilities and reconstruct phylogenies. The observed divergence was exceptionally high, with intraspecific maxima of 10.3% (ITS1) and 20.9% (COI) among European lineages, levels reported for interspecific comparisons of other taxa. Phylogenetic reconstructions reveal multiple origins of asexual clones from sexual populations. However, we argue that such data can only provide a lower limit on the number of origins of asexual reproduction, and an upper limit on the age of asexual lineages. Congruence between gene trees for different loci can provide support for the inference of long-term apomictic reproduction. Nuclear and mitochondrial data differ in their placement of some asexual clones, possibly indicating that genetic exchange has taken place between sexual and asexual lineages. Such intraspecific hybridization is one route to combine the benefits of both reproductive modes, and it might explain how asexuality managed to persist in E. virens even in long, evolutionary terms.
The plant oncogene rolB from Agrobacterium rhizogenes elicits differentiation and growth of neoplastic roots (hairy roots) in dicotyledonous plants. rolB-transformed plant cells show a sensitivity to auxin several order of magnitude higher than normal, and an increased binding capability to this most studied plant growth regulator. The oncogene rolB may thus represent an important tool in elucidating the still elusive mechanism of auxin signal perception/transduction and in shedding light on the role of this plant hormone in the control of plant growth and differentiation. So far, however, all attempts to clarify the biochemical activity and subcellular localization of the rolB gene product have been inconclusive. Here we show that the RolB protein overproduced in Escherichia coli has protein tyrosine phosphatase activity, and that, in transformed plant cells, is localised on the plasma membrane
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