Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis.     

First evidence of autotriploidization in sterlet (Acipenser ruthenus)

Polyploidization has played an important role in vertebrate evolution. Acipenseridae bring clear examples of polyploidy ancestry and, also, polyploidization seems to be an ongoing process in these fishes. In the present study, the genetic origin of six triploid specimens morphologically determined as Acipenser ruthenus from commercial aquaculture was analyzed using a combination of mitochondrial and nuclear markers. A further five successive statistical analyses including median joining of mitochondrial DNA control region sequences, principal coordinate analysis (PCA), factorial correspondence analysis (FCA), STRUCTURE assignation, and NewHybrids status determination for microsatellite data were applied for the clarification of the origin of one extra chromosome set added in these triploids genomes. Although interspecific hybridization had been suggested as a source of these triploids, the statistical analyses showed that the investigated triploids originate from autotriploidization rather than from interspecific hybridization. Therefore, we conclude that a combination of molecular markers with suitable statistical analyses should be used to verify the origin of unusual ploidy level. Evidently, such an approach is critically essential in aquaculture, where interspecific hybridization is very common and usually detected by changes in ploidy levels only.     

Scanning electron microscope study ofTorulopsis ethanolitolerans prepared by glutaraldehyde—Thiosemicarbohydrazide procedure

Torulopsis ethanolitolerans subject to both the sparing and coarse heat treatment were studied in the scanning electron microscope. The reduction of adhesivity, increased permeability and higher rigidity of the yeast wall was achieved by an original glutaraldehyde—paraformaldehyde fixation, low osmolarity in vacuo and subsequent thiosemicarbohydrazide incubation, followed by addition of metal salt. The impregnation of the metal throughout the specimen due to the reaction of the thiosemicarbohydrazide with glutaraldehyde allowed viewing of small or intricate surface details of the yeast. Structural differences of the yeast processed by sparing and coarse heat treatment were shown to be better from the thiosemicarbohydrazide incubated samples compared to those that were prepared with osmium tetroxide.