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18,409 Results

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  • Human Triallelic Sites: Evidence for a New Mutational Mechanism?
    Alan Hodgkinson, Adam Eyre-Walker
    Genetics January 2010 184: 233-241; https://doi.org/10.1534/genetics.109.110510
    ...23, 2009 ABSTRACT Most SNPs in the human genome are biallelic; however, there are some sites that are triallelic. We show here that there are approximately twice as many triallelic sites as we would expect by chance. This excess does not appear to be caused by natural selection or mutational hotspots ~~~
  • Targeting of Painting of fourth to roX1 and roX2 Proximal Sites Suggests Evolutionary Links Between Dosage Compensation and the Regulation of the fourth Chromosome in Drosophila melanogaster
    Lina E. Lundberg, Maria Kim, Anna-Mia Johansson, Marie-Line Faucillion, Rafael Josupeit, Jan Larsson
    G3: Genes|Genomes|Genetics August 2013 3: 1325-1334; https://doi.org/10.1534/g3.113.006866
    ...described. The male-specic lethal (MSL) complex supports dosage compensation by stimulating gene expression from the male X-chromosome, and the protein Painting of fourth (POF) specically targets and stimulates expression from the heterochromatic 4th chromosome. The targeting sites of both systems ~~~
  • Sites of Recombination Are Local Determinants of Meiotic Homolog Pairing in Saccharomyces cerevisiae
    Joshua Chang Mell, Bethany L. Wienholz, Asmaa Salem, Sean M. Burgess
    Genetics June 2008 179: 773-784; https://doi.org/10.1534/genetics.107.077727
    ...received June 15, 2007 Accepted for publication April 4, 2008 ABSTRACT Trans-acting factors involved in the early meiotic recombination pathway play a major role in promoting homolog pairing during meiosis in many plants, fungi, and mammals. Here we address whether or not allelic sites have higher levels ~~~
  • Detecting Amino Acid Sites Under Positive Selection and Purifying Selection
    Tim Massingham, Nick Goldman
    Genetics March 2005 169: 1753-1762; https://doi.org/10.1534/genetics.104.032144
    ...ABSTRACT An excess of nonsynonymous over synonymous substitution at individual amino acid sites is an important indicator that positive selection has affected the evolution of a protein between the extant sequences under study and their most recent common ancestor. Several methods exist to detect ~~~
  • Inference of Population Mutation Rate and Detection of Segregating Sites from Next-Generation Sequence Data
    Chul Joo Kang, Paul Marjoram, Y. S. Song
    Genetics October 2011 189: 595-605; https://doi.org/10.1534/genetics.111.130898
    ...for detection of polymorphic sites for NGS data. Li and Leal (2009) developed a Bayesian method for computing individual genotype likelihood values from NGS data. There are also approaches that combine the resequenced data of the samples for better SNP calling. For example, Bansal et al. (2010) used a method ~~~
  • Inference of Site Frequency Spectra From High-Throughput Sequence Data: Quantification of Selection on Nonsynonymous and Synonymous Sites in Humans
    Peter D. Keightley, Daniel L. Halligan, D. Begun
    Genetics August 2011 188: 931-940; https://doi.org/10.1534/genetics.111.128355
    ...INVESTIGATION Inference of Site Frequency Spectra From High-Throughput Sequence Data: Quantication of Selection on Nonsynonymous and Synonymous Sites in Humans Peter D. Keightley1 and Daniel L. Halligan Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh ~~~
  • Extensive Loss of RNA Editing Sites in Rapidly Evolving Silene Mitochondrial Genomes: Selection vs. Retroprocessing as the Driving Force
    Daniel B. Sloan, Alice H. MacQueen, Andrew J. Alverson, Jeffrey D. Palmer, Douglas R. Taylor
    Genetics August 2010 185: 1369-1380; https://doi.org/10.1534/genetics.110.118000
    ...University, Bloomington, Indiana 47405 Manuscript received April 20, 2010 Accepted for publication May 7, 2010 ABSTRACT Theoretical arguments suggest that mutation rates influence the proliferation and maintenance of RNA editing. We identified RNA editing sites in five species within the angiosperm genus ~~~
  • The Polymorphism Frequency Spectrum of Finitely Many Sites Under Selection
    Michael M. Desai, Joshua B. Plotkin
    Genetics December 2008 180: 2175-2191; https://doi.org/10.1534/genetics.108.087361
    ...uses the polymorphism frequency spectrum to infer the mutation rate and the strength of directional selection. The PRF model relies on an infinite-sites approximation that is reasonable for most eukaryotic populations, but that becomes problematic when u is large (u* 0.05). Here, we show that at large ~~~
  • Second-Order Moments of Segregating Sites Under Variable Population Size
    Daniel Živković, Thomas Wiehe
    Genetics September 2008 180: 341-357; https://doi.org/10.1534/genetics.108.091231
    ...-occurrence of population size changes and selection. To delimit this problem and gain better insights into demographic factors, theoretical results regarding the second-order moments of segregating sites, such as the variance of segregating sites, have been derived. Driven by emerging genomewide surveys, which allow ~~~
  • Rrm3 Protects the Saccharomyces cerevisiae Genome From Instability at Nascent Sites of Retrotransposition
    Radostina Stamenova, Patrick H. Maxwell, Alison E. Kenny, M. Joan Curcio
    Genetics July 2009 182: 711-723; https://doi.org/10.1534/genetics.109.104208
    ...DNA replication and Ty1 retromobility by investigating the basis of increased retromobility in an rrm3 mutant. Even though Ty1 cDNA levels are increased in the absence ofRRM3, neither the level nor target-site specificity of cDNA integration was altered. Instead, cDNA was incorporated into the genome ~~~

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The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.

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