Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy

BACKGROUND: Intronic DNA sequences of the canine arrestin (SAG) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy (gPRA). The intronic sequences flanking each of the 16 exons were obtained from clones of a canine genomic library. RESULTS: Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequence analyses we screened affected and unaffected dogs of 23 breeds with presumed autosomal recessively (ar) transmitted gPRA. In the coding region of the SAG gene 12 nucleotide exchanges were identified, 5 of which lead to amino acid substitutions (H14C; A111V; A113T; D259T; A379E). 7 other exonic substitutions represent silent polymorphisms (C132C; Q199Q; H225H; V247V; P264P; T288T and L293L). 16 additional sequence variations were observed in intronic regions of different dog breeds. CONCLUSIONS: In several breeds, these polymorphisms were found in homozygous state in unaffected and in heterozygous state in affected animals. Consequently these informative substitutions provide evidence to exclude mutations in the SAG gene as causing retinal degeneration in 14 of the 23 dog breeds with presumed ar transmitted gPRA

Genetic Variability of RXRB, PPARA, and PPARG in Wegener's Granulomatosis

A major genomic region involved in Wegener's granulomatosis includes the gene for retinoid receptor beta (RXRB) which forms heterodimers with peroxisome proliferator-activated receptors (PPARs). It is unclear whether this association directly arises from the RXRB allele(s) or via a linked variation. In order to reveal any hitherto unknown and potentially disease-relevant variation of the RXRB gene, we have genotyped four tagging SNPs of this genomic region and have directly sequenced selected WG patients and controls representing disease-associated haplotypes. Additionally, we have genotyped 2 SNPs each in the genes for PPARα and PPARγ (PPARA and PPARG). Hence, we confirmed the strong association of the RXRB locus with WG but could not reveal any novel variation in RXRB. None of the PPARA and PPARG SNPs showed association with WG. Moreover, no epistatic effect was seen between RXRB and PPARA/PPARG alleles. These results do not support an etiopathological role of PPAR in WG. Analyses of further genes functionally linked to RXRB may provide additional data useful to evaluate the RXRB association found in WG

Microstructure and mechanical properties of stable austenitic steel after thermomechanical treatment

The features of microstructure and mechanical properties of stable austenitic steel after thermomechanical treatment consist of low-temperature deformation, warm deformation and subsequent annealing have been investigated. It is shown that under these conditions in the steel direct (γ → α')- and inverse (α' → γ)-martensitic transformations are realized. As a result of the thermomechanical treatment submicrocrystalline structural states with a high density of micro- and nanotwins and localized deformation bands are formed. The yield strength of these structural states more than 3 times increases by the original value

ТЕОСОФИЯ: ГЕНЕЗИС И АКТУАЛИЗАЦИЯ УЧЕНИЯ

У статті розглядається сутність теософії в її історико-філософському генезисі, представленому у вченні неоплатоников, гностиків, середньовічних і ренесансних містиків. Визначається сутність теософії як вчення синкретичної єдності ірраціонально-раціонального збагнення глибини реальності. Специфічність теософії розкривається порівняно з філософією, через визначення джерела знання, предмету і методу пізнання. Представлена актуалізація теософії через сучасну діяльність Міжнародного теософського товариства і спадщину О.П.Блаватськой. Вказується натрансформаційні змінимісії теософії, яка з езотеричного вчення переходить в статус морально-етичного корелята розвитку соціальних інститутів іжиттєвого простору людини.В статье рассматривается сущность теософии в её историко-философском генезисе, представленном в учении неоплатоников, гностиков, средневековых и ренессансных мистиков. Определяется сущность теософии как учения синкретического единства иррационально-рационального постижения глубины реальности. Специфичность теософии раскрывается в сравнении с философией, через определение источника знания, предмета и метода познания. Представлена актуализация теософии через современную деятельность Международного теософского общества и наследие Е.П.Блаватской. Указывается на трансформационные изменения миссии теософии, которая из эзотерического учения переходит в статус морально-нравственного коррелята развития социальных институтов и жизненного пространства человека.In the articleessence of theosophy is examined inits historicaland philosophicalgenesis, presented in thestudies of neoplatonizmus, gnostics,medieval andrenaissancemystics. Essence oftheosophy as studies of syncretismunity of the irrational-rational understanding of depth of reality is determined. Specificity of theosophy opens up by comparison to philosophy, through determination of source of knowledge, object andmethod of cognition.Actualization of theosophy is presented throughmodern activity ofInternational theosophicalsociety andlegacy ofE.P.Blavatskoy. Specified on transformation changes themission of theosophywhich fromesoteric studies passes to status ofmoral-moral correlate of development of social institutes and vital space ofman

Chromosome 9 of Ellobius lutescens is the X chromosome

Ellobius lutescens carries an apparently identical karyotype (2n = 17) in both sexes. On the basis of indirect evidence the unpaired chromosome 9 has been considered to represent the X chromosome of this species. We have obtained data to substantiate this view by four different techniques. After fusion of HPRT- RAG cells with E. lutescens fibroblasts we demonstrated that the enzymes HPRT and G6PD are localized on the presumptive X chromosome. By analysis of pachytene figures after silver staining we showed by electron microscopy that the single chromosome exhibits the typical features of an X chromosome in male meiosis. Hybridization of (GATA)4 and (GACA)4 oligonucleotide probes to E. lutescens DNA revealed several distinct bands in the high molecular weight range some of which appeared to be specific for the individual but not for the sex of the animal. Hybridization in situ of the (GATA)4 probe on metaphase spreads of E. lutescens did not highlight any particular chromosome segment but showed a significant deficit of these sequences in chromosome 9. These observations are discussed with respect to their bearing on X chromosome determination. Finally it is concluded that E. lutescens should be an ideal tool for testing candidate genes assumed to be involved in primary sex determination