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Louise Tilly is noteworthy as an historian, a mentor, and a distiller of feminist thought. Her work covers a variety of fields. In the field of labor history she produced an important study of political contention in Italy, Politics and Class in Milan, 1881–1901, and, along with Charles and Richard Tilly, a widely influential study of collective action, The Rebellious Century (Tilly 1994; Tilly et al. 1975). Her most influential work is in the arena of women's and family history, most notably Women, Work, and Family, a product of her collaboration with Joan Scott (Tilly and Scott 1978). She was also a member of the Panel on Women's Work and Technology of the National Research Council, which produced a signal study of the evolution of women's white collar work and its prospects, Computer Chips and Paper Clips: Technology and Women's Employment, and she possessed a keen interest in the intersection between demographic and family history as shown in her coedited collection on European fertility decline (Gillis et al. 1992; National Research Council 1986). Before illness forced her to cease work, she was moving into global history where her most important contribution was her presidential address to the American Historical Association (AHA) that outlined a distinctive and original approach to world history (Tilly 1994).
Aloss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.
Genotyping in DNA pools reduces the cost and the time required to complete large genotyping projects. The aim of the present study was to evaluate pooling as part of a strategy for fine mapping in regions of significant linkage. Thirty-nine single nucleotide polymorphisms (SNPs) were analyzed in two genomic DNA pools of 384 individuals each and results compared with data after typing all individuals used in the pools. There were no significant differences using data from either 2 or 8 heterozygous individuals to correct frequency estimates for unequal allelic amplification. After correction, the mean difference between estimates from the genomic pool and individual allele frequencies was .033. A major limitation of the use of DNA pools is the time and effort required to carefully adjust the concentration of each individual DNA sample before mixing aliquots. Pools were also constructed by combining DNA after Multiple Displacement Amplification (MDA). The MDA pools gave similar results to pools constructed after careful DNA quantitation (mean difference from individual genotyping .040) and MDA provides a rapid method to generate pools suitable for some applications. Pools provide a rapid and cost-effective screen to eliminate SNPs that are not polymorphic in a test population and can detect minor allele frequencies as low as 1% in the pooled samples. With current levels of accuracy, pooling is best suited to an initial screen in the SNP validation process that can provide high-throughput comparisons between cases and controls to priori- tize SNPs for subsequent individual genotyping.
Nutrigenomics is the study of how constituents of the diet interact with genes, and their products, to alter phenotype and, conversely, how genes and their products metabolise these constituents into nutrients, antinutrients, and bioactive compounds. Results from molecular and genetic epidemiological studies indicate that dietary unbalance can alter gene–nutrient interactions in ways that increase the risk of developing chronic disease. The interplay of human genetic variation and environmental factors will make identifying causative genes and nutrients a formidable, but not intractable, challenge. We provide specific recommendations for how to best meet this challenge and discuss the need for new methodologies and the use of comprehensive analyses of nutrient–genotype interactions involving large and diverse populations. The objective of the present paper is to stimulate discourse and collaboration among nutrigenomic researchers and stakeholders, a process that will lead to an increase in global health and wellness by reducing health disparities in developed and developing countries.
Six lactating dairy cows were used in a three period, part balanced changeover design experiment to investigate the effects of forage digestibility and concentrate composition on the efficiency of nutrient utilization in lactating dairy cows. Six treatments comprising three forage regimens and two concentrate types (starch υ. fibre) were examined in a 3 × 2 factorial design. The three forage regimens were high digestibility grass silage offered ad lib. (HA) or restricted to 6·5 kg dry matter/d (HR) and a low digestibility grass silage offered ad lib. (LA). Within each forage regimen animals were offered 10 kg·d of supplements containing either high-starch or high-fibre concentrations. Experimental periods lasted 28 d with a 10 d recording period, during which animal performance, ration digestibility and nitrogen and energy utilization were measured. Respiratory exchange measurements were made over a 72 h period using indirect open-circuit calorimetry. Throughout the experiment, there were no significant forage × concentrate interactions in any of the intake, production or nutrient utilization results. Milk yield was significantly influenced by forage regimen (24·1, 21·7 and 21·9 kg/d for HA, HR and LA respectively) and concentrate type (21·6 and 23·5 kg/d for high-starch and high-fibre respectively). Concentrate type also significantly influenced milk protein concentration (32·8 and 30·9 g/kg for high-starch and high-fibre respectively). Forage regimen significantly influenced the efficiency of utilization of metabolizable energy (ME) for milk production (κ1) with values of 0·62, 0·64 and 0·59 for HA, HR and LA respectively. Concentrate type had no significant effect on ME intake, heat production or κ1, although animals receiving the high-fibre concentrates synthesized proportionately 0·11 more milk energy per unit of available energy (ME intake – heat production) than those receiving the high-starch concentrates. Interpolation of the values obtained with the two high digestibility forage regimens indicated that at similar ME intakes there was a trend towards a higher κ1 with the diet based on high digestibility silage, and this was in line with the higher metabolizability of the overall diet with this silage.
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