Here, we report the aquaporin 2 (AQP2) mutational analysis of a patient with nephrogenic diabetes insipidus heterozygote due to two novel missense mutations. Direct sequencing of DNA in the male patient revealed that he was compound heterozygote for two mutations in the AQP2 gene: a thymine-to-adenine transversion at position 450 (c.450T>A) in exon 2 and a guanine-to-thymine at nucleotide position 643 (c.643G>T) in exon 4. The double heterozygous 450T>A and 643G>T transversion causes the amino acid substitution D150E and G215C. Direct sequencing of exons 2 and 4 of the AQP2 gene from each of the parents revealed that the c.450T>A mutation was inherited from the father while the c.643G>T mutation was inherited from the mother. Analysis of AQP2 excretion demonstrated that no AQP2 was detectable in the urine of the proband, whereas normal AQP2 levels were measured in both parents. When expressed in renal cells, both proteins were retarded in the endoplasmic reticulum and no redistribution was observed after forskolin stimulation. Of note, homology modeling revealed that the two mutations involve two highly conserved residues providing important clues about the role of the wt residues in AQP2 stability and function.
The mechanisms of cell-cell communication in Lactobacillus sanfranciscensis CB1 were studied. The highest number of dead/damaged cells of L. sanfranciscensis CB1 was found in cocultures with Lactobacillus plantarum DC400 or Lactobacillus brevis CR13 when the late stationary phase of growth (18 h) was reached. 2-DE analysis was carried out. Almost the same proteins were induced in all three cocultures at the mid-exponential phase of growth (7 h). The number of induced proteins markedly increased at 18 h, especially when L. sanfranciscensis CB1 was cocultured with L. plantarum DC400 or L. brevis CR13. Nineteen overexpressed proteins were identified. These proteins had a central role in stress response mechanisms and LuxS-mediated signalling was involved in the regulation of most of them. The luxS and metF genes were partially sequenced in L. sanfranciscensis CB1. RT-PCR showed that the expression of luxS gene decreased from 7 to 12 h. It was highest in cocultures with L. plantarum DC400 and L. brevis CR13. 2(3H)dihydrofuranone-5ethyl and 2(3H)dihydrofuranone-5pentyl were identified as presumptive signalling molecules when L. sanfranciscensis CB1 was cocultured with L. brevis CR13 and, especially, L. plantarum DC400. The synthesis of other volatile compounds and peptidase activities were also influenced by the type of microbial cocultures.
Comparison of the genetic map of maize chromosome 9 with maps of wheat chromosomes has revealed a high degree of colinearity between maize chromosome 9 and the group 4 and 7 chromosomes of wheat. The order of DNA markers on the short arm and a proximal region of the long arm of the genetic map of maize chromosome 9 is highly conserved with the marker order on the short arm and proximal region of the long arm of the genetic map of the wheat homeologous group 7 chromosomes. A major part of the long arm of the genetic map of maize chromosome 9 is homeologous with a short segment in the proximal region of the long arm of the genetic map of the wheat group 4 chromosomes. Evidence is also presented that maize chromosome 9 has diverged from the wheat group 7 chromosomes by both a pericentric and a paracentric inversion. The paracentric inversion is probably unique to maize among the major cereal genomes.
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