| 1. |
- Gilks, William P, et al.
(author)
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Sex differences in disease genetics: evidence, evolution, and detection.
- 2014
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In: Trends in Genetics. - : Elsevier BV. - 1362-4555 .- 0168-9525. ; 30:10, s. 453-463
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Research review (peer-reviewed)abstract
- Understanding the genetic architecture of disease is an enormous challenge, and should be guided by evolutionary principles. Recent studies in evolutionary genetics show that sexual selection can have a profound influence on the genetic architecture of complex traits. Here, we summarise data from heritability studies and genome-wide association studies (GWASs) showing that common genetic variation influences many diseases and medically relevant traits in a sex-dependent manner. In addition, we discuss how the discovery of sex-dependent effects in population samples is improved by joint interaction analysis (rather than separate-sex), as well as by recently developed software. Finally, we argue that although genetic variation that has sex-dependent effects on disease risk could be maintained by mutation-selection balance and genetic drift, recent evidence indicates that intra-locus sexual conflict could be a powerful influence on complex trait architecture, and maintain sex-dependent disease risk alleles in a population because they are beneficial to the opposite sex.
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| 2. |
- Jones, Eleanor P., et al.
(author)
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Genetic tracking of mice and other bioproxies to infer human history
- 2013
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525 .- 1362-4555. ; 29:5, s. 298-308
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Research review (peer-reviewed)abstract
- The long-distance movements made by humans through history are quickly erased by time but can be reconstructed by studying the genetic make-up of organisms that travelled with them. The phylogeography of the western house mouse (Mus musculus domesticus), whose current widespread distribution around the world has been caused directly by the movements of (primarily) European people, has proved particularly informative in a series of recent studies. The geographic distributions of genetic lineages in this commensal have been linked to the Iron Age movements within the Mediterranean region and Western Europe, the extensive maritime activities of the Vikings in the 9th to 11th centuries, and the colonisation of distant landmasses and islands by the Western European nations starting in the 15th century. We review here recent insights into human history based on phylogeographic studies of mice and other species that have travelled with humans, and discuss how emerging genomic methodologies will increase the precision of these inferences.
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| 3. |
- Naurin, Sara, et al.
(author)
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Why does dosage compensation differ between XY and ZW taxa?
- 2010
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In: Trends in Genetics. - : Elsevier BV. - 1362-4555 .- 0168-9525. ; 26:1, s. 15-20
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Journal article (peer-reviewed)abstract
- Recent studies have demonstrated an extensive male bias in the gene expression on Z chromosomes in species with a ZW sex determination (e.g. birds), suggesting that ZW females have incomplete dosage compensation. We propose that the extensive male bias on Z chromosomes is caused by the functional properties of male-adapted genes, which make them unsuitable for high expression in females, and that ZW females are dosage-compensated to a point where they have achieved enough compensation to maintain the integrity of critical networks. In ZW systems, Z chromosomes spend two-thirds of their evolutionary time in males, and pronounced sexual selection in males and the male mutation bias can interact and affect levels of sexual antagonism, causing more extensive male bias in gene expression on Z-linked genes. These patterns and processes contrast with those acting on genes on the X chromosome in XY species, and might help explain the discrepancies in the degree of sex-biased gene expression and dosage compensation in XY and ZW systems.
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| 4. |
- Nelson, Ronald, et al.
(author)
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A century after Fisher : time for a new paradigm in quantitative genetics.
- 2013
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525 .- 1362-4555. ; 29:12
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Journal article (peer-reviewed)abstract
- Quantitative genetics traces its roots back through more than a century of theory, largely formed in the absence of directly observable genotype data, and has remained essentially unchanged for decades. By contrast, molecular genetics arose from direct observations and is currently undergoing rapid changes, making the amount of available data ever greater. Thus, the two disciplines are disparate both in their origins and their current states, yet they address the same fundamental question: how does the genotype affect the phenotype? The rapidly accumulating genomic data necessitate sophisticated analysis, but many of the current tools are adaptations of methods designed during the early days of quantitative genetics. We argue here that the present analysis paradigm in quantitative genetics is at its limits in regards to unraveling complex traits and it is necessary to re-evaluate the direction that genetic research is taking for the field to realize its full potential.
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| 5. |
- Pinhasi, Ron, et al.
(author)
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The genetic history of Europeans
- 2012
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525 .- 1362-4555. ; 28:10, s. 496-505
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Research review (peer-reviewed)abstract
- The evolutionary history of modern humans is characterized by numerous migrations driven by environmental change, population pressures, and cultural innovations. In Europe, the events most widely considered to have had a major impact on patterns of genetic diversity are the initial colonization of the continent by anatomically modern humans (AMH), the last glacial maximum, and the Neolithic transition. For some decades it was assumed that the geographical structuring of genetic diversity within Europe was mainly the result of gene flow during and soon after the Neolithic transition, but recent advances in next-generation sequencing (NGS) technologies, computer simulation modeling, and ancient DNA (aDNA) analyses are challenging this simplistic view. Here we review the current knowledge on the evolutionary history of humans in Europe based on archaeological and genetic data.
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| 6. |
- Webster, Matthew T., et al.
(author)
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Direct and indirect consequences of meiotic recombination : implications for genome evolution
- 2012
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525 .- 1362-4555. ; 28:3, s. 101-109
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Research review (peer-reviewed)abstract
- There is considerable variation within eukaryotic genomes in the local rate of crossing over. Why is this and what effect does it have on genome evolution? On the genome scale, it is known that by shuffling alleles, recombination increases the efficacy of selection. By contrast, the extent to which differences in the recombination rate modulate the efficacy of selection between genomic regions is unclear. Recombination also has direct consequences on the origin and fate of mutations: biased gene conversion and other forms of meiotic drive promote the fixation of mutations in a similar way to selection, and recombination itself may be mutagenic. Consideration of both the direct and indirect effects of recombination is necessary to understand why its rate is so variable and for correct interpretation of patterns of genome evolution.
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| 7. |
- Williams, Tom A, et al.
(author)
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Two chaperonin systems in bacterial genomes with distinct ecological roles
- 2010
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525 .- 1362-4555. ; 26:2, s. 47-51
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Journal article (peer-reviewed)abstract
- Bacterial chaperonins are essential to cell viability and have a role in endosymbiosis, which leads to increased biological complexity. However, the extent to which chaperonins promote ecological innovation is unknown. We screened 622 bacterial genomes for genes encoding chaperonins, and found archaeal-like chaperonins in bacteria that inhabit archaeal ecological niches. We found that chaperonins encoded in pathogenic bacteria are the most functionally divergent. We identified the molecular basis of the dramatic structural changes in mitochondrial GROEL, a highly derived chaperonin gene. Our analysis suggests that chaperonins are important capacitors of evolutionary and ecological change.
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| 8. |
- Morrison, David
(author)
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Networks: expanding evolutionary thinking
- 2013
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525. ; 29, s. 439-441
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Journal article (other academic/artistic)abstract
- Networks allow the investigation of evolutionary relationships that do not fit a tree model. They are becoming a leading tool for describing the evolutionary relationships between organisms, given the comparative complexities among genomes.
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| 9. |
- Toro, Roberto, et al.
(author)
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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.
- 2010
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In: Trends in Genetics. - : Elsevier BV. - 0168-9525. ; 26:8, s. 363-372
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Research review (peer-reviewed)abstract
- Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and repetitive, stereotyped verbal and non-verbal behaviors. Genetic studies have provided a relatively large number of genes that constitute a comprehensive framework to better understand this complex and heterogeneous syndrome. Based on the most robust findings, three observations can be made. First, genetic contributions to ASD are highly heterogeneous and most probably involve a combination of alleles with low and high penetrance. Second, the majority of the mutations apparently affect a single allele, suggesting a key role for gene dosage in susceptibility to ASD. Finally, the broad expression and function of the causative genes suggest that alteration of synaptic homeostasis could be a common biological process associated with ASD. Understanding the mechanisms that regulate synaptic homeostasis should shed new light on the causes of ASD and could provide a means to modulate the severity of the symptoms.
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