Rhombenzephalosynapsis, biparietale Alopezie und Hornhauttrübung

Zusammenfassung: Bei der Untersuchung des mental retardierten und stimmungslabilen 16-Jährigen mit kongenitalem Hydrocephalus internus fielen eine parietale Alopezie, eine Hornhauttrübung, ein Brachyturrizephalus, eine späte Pubertät, ein Kleinwuchs und eine Ataxie auf. In der Magnetresonanztomographie fanden sich eine Rhombenzephalosynapsis sowie weitere zerebrale Auffälligkeiten. Wir diagnostizierten ein Gómez-López-Hernández-Syndrom. Dieses ist gekennzeichnet durch das kombinierte Auftreten einer Rhombenzephalosynapsis und einer parietalen Alopezie, häufig assoziiert mit weiteren typischen Fehlbildunge

ALFA: First Operational Experience of the MPE/MPIA Laser Guide Star System for Adaptive Optics

The sodium laser guide star adaptive optics system ALFA has been constructed at the Calar Alto 3.5-m telescope. Following the first detection of the laser beacon on the wavefront sensor in 1997 the system is now being optimized for best performance. In this contribution we discuss the current status of the launch beam and the planned improvements and upgrades. We report on the performance level achieved when it is used with the adaptive optics system, and relate various aspects of our experience during operation of the system. We have begun to produce scientific results and mention two of these.Comment: 9 pages, 6 figures, LaTeX (spie.sty). SPIE conf proc 3353, Adaptive Optical System Technologies, March 199

On insertion-deletion systems over relational words

We introduce a new notion of a relational word as a finite totally ordered set of positions endowed with three binary relations that describe which positions are labeled by equal data, by unequal data and those having an undefined relation between their labels. We define the operations of insertion and deletion on relational words generalizing corresponding operations on strings. We prove that the transitive and reflexive closure of these operations has a decidable membership problem for the case of short insertion-deletion rules (of size two/three and three/two). At the same time, we show that in the general case such systems can produce a coding of any recursively enumerable language leading to undecidabilty of reachability questions.Comment: 24 pages, 8 figure

ContDist: a tool for the analysis of quantitative gene and promoter properties

<p>Abstract</p> <p>Background</p> <p>The understanding of how promoter regions regulate gene expression is complicated and far from being fully understood. It is known that histones' regulation of DNA compactness, DNA methylation, transcription factor binding sites and CpG islands play a role in the transcriptional regulation of a gene. Many high-throughput techniques exist nowadays which permit the detection of epigenetic marks and regulatory elements in the promoter regions of thousands of genes. However, so far the subsequent analysis of such experiments (e.g. the resulting gene lists) have been hampered by the fact that currently no tool exists for a detailed analysis of the promoter regions.</p> <p>Results</p> <p>We present ContDist, a tool to statistically analyze quantitative gene and promoter properties. The software includes approximately 200 quantitative features of gene and promoter regions for 7 commonly studied species. In contrast to "traditionally" ontological analysis which only works on qualitative data, all the features in the underlying annotation database are quantitative gene and promoter properties.</p> <p>Utilizing the strong focus on the promoter region of this tool, we show its usefulness in two case studies; the first on differentially methylated promoters and the second on the fundamental differences between housekeeping and tissue specific genes. The two case studies allow both the confirmation of recent findings as well as revealing previously unreported biological relations.</p> <p>Conclusion</p> <p>ContDist is a new tool with two important properties: 1) it has a strong focus on the promoter region which is usually disregarded by virtually all ontology tools and 2) it uses quantitative (continuously distributed) features of the genes and its promoter regions which are not available in any other tool. ContDist is available from <url>http://web.bioinformatics.cicbiogune.es/CD/ContDistribution.php</url></p

CpG islands or CpG clusters: how to identify functional GC-rich regions in a genome?

Background CpG islands (CGIs), clusters of CpG dinucleotides in GC-rich regions, are often located in the 5\u27 end of genes and considered gene markers. Hackenberg et al. (2006) recently developed a new algorithm, CpGcluster, which uses a completely different mathematical approach from previous traditional algorithms. Their evaluation suggests that CpGcluster provides a much more efficient approach to detecting functional clusters or islands of CpGs. Results We systematically compared CpGcluster with the traditional algorithm by Takai and Jones (2002). Our comparisons of (1) the number of islands versus the number of genes in a genome, (2) the distribution of islands in different genomic regions, (3) island length, (4) the distance between two neighboring islands, and (5) methylation status suggest that Takai and Jones\u27 algorithm is overall more appropriate for identifying promoter-associated islands of CpGs in vertebrate genomes. Conclusion The generation of genome sequence and DNA methylation data is expected to accelerate greatly. The information in this study is important for its extensive utility in gene feature analysis and epigenomics including gene prediction and methylation chip design in different genomes

Transport of Proteins into Mitochondria

The mitochondrial ADP/ATP carrier is an integral transmembrane protein of the inner membrane. It is synthesized on cytoplasmic ribosomes. Kinetic data suggested that this protein is transferred into mitochondria in a posttranslational manner. The following results provide further evidence for such a mechanism and provide information on its details. 1. In homologous and heterologous translation systems the newly synthesized ADP/ATP carrier protein is present in the postribosomal supernatant. 2. Analysis by density gradient centrifugation and gel filtration shows, that the ADP/ATP carrier molecules in the postribosomal fraction are present as soluble complexes with apparent molecular weights of about 120000 and 500000 or larger. The carrier binds detergents such as Triton X-100 and deoxycholate forming mixed micelles with molecular weights of about 200000–400000. 3. Incubation of a postribosomal supernatant of a reticulocyte lysate containing newly synthesized ADP/ATP carrier with mitochondria isolated from Neurospora spheroplasts results in efficient transfer of the carrier into mitochondria. About 20–30% of the transferred carrier are resistant to proteinase in whole mitochondria. The authentic mature protein is also largely resistant to proteinase in whole mitochondria and sensitive after lysis of mitochondria with detergent. Integrity of mitochondria is a prerequisite for translocation into proteinase resistant position. 4. The transfer in vitro into a proteinase-resistant form is inhibited by the uncoupler carbonyl-cyanide m-chlorophenylhydrazone but not the proteinase-sensitive binding. These observations suggest that the posttranslational transfer of ADP/ATP carrier occurs via the cytosolic space through a soluble oligomeric precursor form. This precursor is taken up by intact mitochondria into an integral position in the membrane. These findings are considered to be of general importance for the intracellular transfer of insoluble membrane proteins. They support the view that such proteins can exist in a water-soluble form its precursors and upon integration into the membrane undergo a conformational change. Uptake into the membrane may involve the cleavage of an additional sequence in some proteins, but this appears not to be a prerequisite as demonstrated by the ADP/ATP carrier protein