Spatial Reference in Momu

Spatial reference - how we communicate notions such as location, motion and direction - is an important area of current research. Recent studies involving detailed analysis of geographically and typologically diverse languages have uncovered extensive and unexpected variation in the means languages utilise to encode spatial relations. This thesis aims to contribute to the growing body of knowledge about the cross-linguistic representation of the spatial domain. It is an analysis of fieldwork data which was collected for a preliminary investigation into the spatial reference system of Momu (also known as Fas), a Kwomtari language spoken in the West Sepik region of Papua New Guinea. The analysis focuses on descriptions of static location, motion and the use of frames of reference. In Momu, all basic locative, directional and motion verbs are deictically anchored, such that there are few expressions of spatial reference that do not obligatorily require deictic specification. This thesis demonstrates the particular attention Momu pays to the specification of deixis across all major sub-areas of the spatial domain.Australian Research Council [William Foley, Chief Investigator

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia

The original publication is available at http://jmg.bmj.com/In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its reported virtual absence in the black population in general. In this study, the molecular basis of primary hypercholesterolaemia was studied in 16 Africans diagnosed with FH. DNA analysis using three screening methods resulted in the identification of seven different mutations in the coding region of the low density lipoprotein (LDLR) gene in 10 of the patients analysed. These included a 6 bp deletion (GCGATG) accounting for 28% of defective alleles, and six point mutations (D151H, R232W, R385Q, E387K, P678L, and R793Q) detected in single families. The Sotho patient with missense mutation R232W was also heterozygous for a de novo splicing defect 313+1G→A. Several silent mutations/polymorphisms were detected in the LDLR and apolipoprotein B genes, including a base change (g→t) at nucleotide position −175 in the FP2 LDLR regulatory element. This promoter variant was detected at a significantly higher (p<0.05) frequency in FH patients compared to controls and occurred in cis with mutation E387K in one family. Analysis of four intragenicLDLR gene polymorphisms showed that the same chromosomal background was identified at this locus in the four FH patients with the 6 bp deletion. Detection of the 6 bp deletion in Xhosa, Pedi, and Tswana FH patients suggests that it is an ancient mutation predating tribal separation approximately 3000 years ago.Harry and Doris Crossley FoundationSouth African Medical Research CouncilUniversity of StellenboschBritish Heart Foundation (grant no PG/96013)Publisher's versio

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Estructuración y valuación de un call europeo sobre el nivel de radiación percibido al nivel de la órbita sincrónica de la tierra

Maestría en Administración Financier

Curriculumontwikkeling

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Zwei Satiren des Horaz : nach Edmund Voigts Grundsätzen

übers. und als Ergänzung seines hinterlassenen Werkes veröff. von Friedrich van HoffsProgr.-Nr. 43