942 resultados para Mackay-Smith, Alexander, 1850-1911.


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Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P<5x10(-8)). Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21. Three of these loci were identified in disease subgroup analyses. Brain tissue expression quantitative trait locus analysis suggests potential functional candidate genes at four loci: APOA1BP, TBC1D7, FUT9, STAT6 and ATP5B.

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There is evidence across several species for genetic control of phenotypic variation of complex traits1, 2, 3, 4, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human medicine, yet for complex traits, no individual genetic variants associated with variance, as opposed to the mean, have been identified. Here we perform a meta-analysis of genome-wide association studies of phenotypic variation using ~170,000 samples on height and body mass index (BMI) in human populations. We report evidence that the single nucleotide polymorphism (SNP) rs7202116 at the FTO gene locus, which is known to be associated with obesity (as measured by mean BMI for each rs7202116 genotype)5, 6, 7, is also associated with phenotypic variability. We show that the results are not due to scale effects or other artefacts, and find no other experiment-wise significant evidence for effects on variability, either at loci other than FTO for BMI or at any locus for height. The difference in variance for BMI among individuals with opposite homozygous genotypes at the FTO locus is approximately 7%, corresponding to a difference of ~0.5 kilograms in the standard deviation of weight. Our results indicate that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. The results are consistent with reported FTO by environment interactions for BMI8, possibly mediated by DNA methylation9, 10. Our BMI results for other SNPs and our height results for all SNPs suggest that most genetic variants, including those that influence mean height or mean BMI, are not associated with phenotypic variance, or that their effects on variability are too small to detect even with samples sizes greater than 100,000.

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Experiments involving row spacing and tillage, originally established in Mackay and Ingham in 2001, were planted to a second cycle of sugarcane in 2006 following a soybean break. Despite large yield differences, economic analysis indicated that there would be little difference in gross margins because of the much higher costs of the tilled system. It is concluded that without GPS guidance, as was the case with these experiments, cane yields are likely to be reduced with no tillage but these problems may well be overcome by implementing minimum strategic tillage to remove compaction from the planting row.

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The economic analysis is based on the A, B, C and D management practice framework for water quality improvement developed in 2007/2008 by the respective natural resource management region. The Mackay Whitsunday ABCD management framework for sugarcane management practices was published in 2009 by the Department of Primary Industries & Fisheries (DPI&F), following the original version that was published in the Water Quality Improvement Plan: final report for Mackay Whitsunday region (2008).

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Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10−9 to P = 1.8 × 10−40) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10−3 to P = 1.2 × 10−13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.

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In the Mackay Whitsunday region, the dominant grazing based operations are small intensive systems that heavily utilise soil, nutrient and chemical management practices. To improve water quality entering the Great Barrier Reef, graziers are being encouraged to adopt improved management practices. However, while there is good understanding of the management changes required to reach improved practice classification levels, there is poor understanding of the likely economic implications for a grazier seeking to move from a lower level classification to the higher level classifications. This paper provides analysis of the costs and benefits associated with adoption of intensive grazing best management practices to determine the effect on the profitability and economic sustainability of grazing enterprises, and the economic viability of capital investment to achieve best management. The results indicate that financial incentives are likely to be required to encourage smaller graziers to invest in changing their management practices, while larger graziers may only require incentives to balance the risk involved with the transition to better management practices.

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Illegible handwriting bottom right

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Digital Image

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Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members--mainly affected sister pairs--with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.

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Cloth covered, oversize album featuring photographs of a family home.

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Memoir describes her life in Germany, her decision to leave Germany after the death of her parents, and to work in the United States in 1934. Detailed description of every day life in Germany (after World War I) and in the United States, and later of various travels all over the world. Also mentions her German-Jewish ancestors on her maternal side (great-great-grandparents: Moritz and Fanny Hertz, great-grandmother: Helene Hertz nee Orthenberger), who had a textile business.

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The collection contains items relating to individual members of the family as well as the Seixas family in general. Included are papers of the following persons: Isaac Mendes Seixas (1708/9-1780/1), a copy of A voyage to Hudson's--Bay, by Henry Ellis, inscribed with his name on the title page, along with additional inscriptions on the end papers (1748); and a daily prayer book printed in Amsterdam (title page missing), with an inscription on the first page indicating that the book was owned by Seixas in 1758/9, and subsequently by his grandson, Theodore J. Seixas, in 1816/17.

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Collection contains materials pertaining to the life and work of Stone.