This study comprised three major parts: a comparative physiological study of drought responses under controlled conditions; a genetic study to construct the skeleton map of a doubled haploid (DH) population; and a quantitative trait loci (QTL) analysis to identify QTLs associated with drought tolerance traits in the field. In the first part (Chapter 3), three cultivars of wheat (Triticum aestivum L.) adapted to South Australian conditions were tested for drought tolerance under cyclic drought in growth rooms and glasshouse. Extensive physiological traits, including stomatal conductance, chlorophyll content and fluorescence, ABA content, water status traits (e.g. osmotic adjustment, RWC and leaf water potential), water soluble carbohydrates (WSC) and carbon isotope discrimination (Δ¹ ³C) were measured during experiments. Through these experiments, the drought responses of the three cultivars were physiologically dissected and the likely processes contributing most to drought tolerance were identified. In the South Australian wheatbelt, cyclic drought is a frequent event, represented by intermittent periods of rainfall which can occur around anthesis and post-anthesis in wheat. Three South Australian bread wheat cultivars, Excalibur, Kukri and RAC875, were evaluated in two growth room experiments under cyclic water-limiting conditions. In the first experiment, where plants were subjected to severe water stress, RAC875 and Excalibur (drought tolerant) showed significantly (P < 0.05) higher grain yield under cyclic water availability compared to Kukri (drought susceptible), producing 44% and 18% more grain yield compared to Kukri, respectively. In the second growth room experiment, where plants were subjected to a milder drought stress, the differences between cultivars were less pronounced, with only RAC875 showing significantly higher grain yield under the cyclic water treatment. Grain number per spike and the percentage of aborted tillers were the major yield components that affected yield under cyclic water stress. Excalibur and RAC875 adopted different morpho-physiological traits and mechanisms to reduce water stress. Excalibur was most responsive to cyclic water availability and showed the highest level of osmotic adjustment (OA), highest stomatal conductance, lowest ABA content and most rapid recovery from stress under cyclic water stress. RAC875 was more ‘conservative’ in its responses, with moderate OA, high leaf waxiness, high chlorophyll content and slower recovery from stress. Within this germplasm, the capacity for osmotic adjustment was the main physiological attribute associated with tolerance under cyclic water stress, which enabled plants to recover from water deficit. In the second part (Chapter 4), the genetic linkage map of a DH population including 368 lines, which was developed from a cross between ‘RAC875’ and ‘Kukri’, was constructed. The genetic linkage map consisted of about 500 molecular markers including ~300 DArT (Diversity array technology) and ~200 SSR (Microsattelite markers). In the third part (Chapter 5), Quantitative Trait Loci (QTLs) linked to plant phenology and production traits under irrigated and drought stress conditions were mapped by means of a DH population. To phenotype the population, 368 DH lines were cultivated in two replicates in five environments (three sites across South Australian wheatbelt in collaboration with Australian Grain Technology (AGT) in 2006, and two trials in Mexico in collaboration with CYMMIT, 2007). Data of grain yield, yield components, maturity related traits and some morpho-physiological traits such as leaf chlorophyll content, leaf waxiness, plant height, peduncle length, flag leaf and spike length were measured. Raw data were then analysed for spatial variation for each single trial using the REML procedure in GenStat (version 6). The DH lines showed significant variation for plant phenology, grain yield and yield components under irrigated and drought stress conditions. QTL analyses were performed using QTLCartographer and QTLNetwork for each trait in each site. Two major QTL for maturity traits were identified on chromosomes 2BS and 2DS corresponding to Ppd-B1 and Ppd-D1, respectively. A region was identified on chromosome 7A that harbored major QTL for grain yield, number of grains per square meter, number of grain per spike and spike fertility under drought stress. For yield data in the irrigated trial, two major QTL were identified on chromosome 3B which were not detected in drought stress environments. By using different datasets in the QTL analysis (splitting the population into two subpopulation based on heading time and also adjusting the phenotypic data for heading time to eliminate heading time effect), a QTL for grain yield was consistently detected on chromosome 7A in drought-affected environments. The coincidence of a drought response index QTL on this chromosome indicated that it might be a QTL for yield response under drought. This study demonstrated that the region on the long arm of chromosome 7A identified for grain yield and yield components is a drought response QTL which is closely linked to, but separate from, a heading time QTL. This QTL cluster on chromosome 7A could be used as a good target for positional cloning and gene isolation. However further work would be required to confirm and validate the identified QTLs in this preliminary QTL analysis. / http://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1340056 / Thesis (Ph.D.) -- University of Adelaide, School of Agriculture, Food and Wine, 2008

Doctor of Philosophy / Abstract Neurodegenerative disorders are a diverse group of disorders that affect specific subsets of neurons. Motor neuron diseases, neurodegenerative disorders of motor neurons, are seen commonly as sporadic cases and less frequently as familial disease forms. The familial forms show genetic and phenotypic heterogeneity. Clinically motor neuron diseases may be seen as rapidly progressive disorders like amyotrophic lateral sclerosis, ALS or slowly progressive disorders like hereditary motor neuropathies, HMN. The only proven causes for motor neuron diseases are gene mutations that lead to motor neuron degeneration in familial disease forms. Only some of these genes have been identified and have contributed greatly to our understanding of the neurobiology of familial and sporadic disease forms. Identification of additional disease causing genes would help enhance our knowledge of the pathophysiological mechanisms underlying all forms of motor neuron disorders, which would lead to early diagnoses, effective prophylaxis and efficient therapies for these disorders. This study aimed to find gene mutations that cause rapid and slowly progressive familial motor neuron disorders in Australian families and to determine their relevance to sporadic forms of motor neuron disease. The familial forms of ALS show reduced disease penetrance, that is, not all gene mutation carriers manifest the disease. This study examines ALS penetrance in a group of Australian families. The most frequently observed mutations in ALS families are cytosolic superoxide dismutase/SOD1 gene mutations. In a collection of ALS families in our centre, families without the common SOD1 gene mutations were genotyped for other ALS genes and loci and studied using genetic linkage and haplotype analyses. Studies in a large Australian ALS family further confirmed genetic heterogeneity in non-SOD familial ALS, all known autosomal dominant ALS genes and chromosomal loci were excluded as cause of disease in this family. Such families can be studied further to identify additional disease genes and loci mapped in other ALS families. These families represent powerful resources for identification of additional ALS genes. Identifying the pathogenic genes in families with reduced disease penetrance may be more relevant to sporadic forms of disease. dHMN is a chronic neurodegenerative disorder predominantly affecting motor neurons. In a large Australian dHMN family, all the known dHMN genes and chromosomal loci were excluded as cause of disease. A genome wide microsatellite screen was performed in this family and genetic linkage was established to a novel 12.98 Mb locus on chromosome 7q34.2-q36. Candidate genes in this large interval will be screened based on their function and expression profile. Identification of a new dHMN locus provides the basis for future identification of a novel gene involved in motor neuron degeneration. Genes in dHMN have been shown to be pathogenic in ALS and Charcot Marie Tooth syndromes. The new locus for dHMN mapped in this project would lead to identification of a novel dHMN gene, which may elucidate the pathogenesis underlying a wide range of neurodegenerative disorders.

"November 2001". / Thesis (PhD)--Macquarie University, Division of Environmental and Life Sciences, Department of Biological Sciences, 2002. / Bibliography: leaves 136-157. / General introduction -- Molecular markers for comparative and quantitative studies in macropods -- Genetic linkage map construction in the tammar wallaby (M. eugenii) -- Intraspecific variation, sex-biased dispersal and phylogeography of the eastern grey kangaroo (M. giganteus) -- General discussion. / The analysis of DNA using molecular techniques is an important tool for studies of evolutionary relationships, population genetics and genome organisation. The use of molecular markers within marsupials is primarily limited by their availability and success of amplification. Within this study, 77 macropodid type II microsatellite loci and two type I genetic markers were characterised within M. eugenii to evaluate polymorphic levels and cross-species amplification artifacts. Results indicated that 65 microsatellite loci amplified a single locus in M. eugenii with 44 exhibiting high levels of variability. The success of crossspecies amplification of microsatellite loci was inversely proportional to the evolutionary distance between the macropod species. It is revealed that the majority of species within the Macropodidae are capable of using many of the available heterologous microsatellites. When comparing the degree of variability between source-species and M. eugenii, most were significantly higher within source species (P < 0.05). These differences were most likely caused by ascertainment bias in microsatellite selection for both length and purity. -- The production of a marsupial genetic linkage map is perhaps one of the most important objectives in marsupial research. This study used a total of 353 informative meioses and 64 genetic markers to construct a framework genetic linkage map for M. eugenii. Nearly all markers (93.7%) formed a significant linkage (LOD > 3.0) with at least one other marker. More than 70% (828 cM) of the genome had been mapped when compared with chiasmata data. Nine linkage groups were identified, with all but one (LG7; X-linked) allocated to the autosomes. Theses groups ranged in size from 15.7 cM to 176.5 cM, and have an average distance of 16.2 cM between adjacent markers. Of the autosomal linkage groups, LG2 and LG3 were assigned to chromosome 1 and LG4 localised to chromosome 3 based on physical localisation of genes. Significant sex-specific distortions towards reduced female recombination rates were revealed in 22% of comparisons. Positive interference was observed within all the linkage groups analysed. When comparing the X-chromosome data to closely related species it is apparent that it is conserved both in synteny and gene order. -- The investigation of population dynamics of eastern grey kangaroos has been limited to a few ecological studies. The present investigation provides analysis of mtDNA and microsatellite data to infer both historical and contemporary patterns of population structuring and dispersal. The average level of genetic variation across sample locations was exceedingly high (h = 0.95, HE = 0.82), and is one of the highest observed for marsupials. Contrary to ecological studies, both genic and genotypic analyses reveal weak genetic structure of populations where high levels of dispersal may be inferred up to 230 km. The movement of individuals was predominantly male-biased (average N,m = 22.61, average N p = 2.73). However, neither sex showed significant isolation by distance. On a continental scale, there was strong genetic differentiation and phylogeographic distinction between southern (TAS, VIC and NSW) and northern (QLD) Australian populations, indicating a current and / or historical restriction of geneflow. In addition, it is evident that northern populations are historically more recent, and were derived from a small number of southern eastern grey kangaroo founders. Phylogenetic comparisons between M. g. giganteus and M. g. tasmaniensis, indicated that the current taxonomic status of these subspecies should be revised as there was a lack of genetic differentiation between the populations sampled. / Mode of access: World Wide Web. / xv, 182 leaves ill

Diss. (sammanfattning) Stockholm : Karol. inst., 2003. / Härtill 4 uppsatser.

Diss. (sammanfattning) Stockholm : Karol. inst., 2005. / Härtill 4 uppsatser.

Thesis (Ph. D.)--University of Adelaide, Dept. of Paediatrics, 1994. / Errata slip inserted at back. Includes bibliographical references (leaves 159-192).

Lic.-avh. (sammanfattning) Stockholm : Karol. inst., 2006. / Härtill 3 uppsatser.

Diss. (sammanfattning) Umeå : Umeå universitet, 2006. / Härtill 4 uppsatser.

Diss. (sammanfattning) Stockholm : Karolinska institutet, 2006. / Härtill 4 uppsatser.

Diss. (sammanfattning) Uppsala : Uppsala universitet, 2008. / Härtill 4 uppsatser.