解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Genetic studies of multidimensional phenotypes can potentially link genetic variation, gene expression, and physiological data to create multi-scale models of complex traits. The challenge of reducing these data to specific hypotheses has become increasingly acute with the advent of genome-scale data resources. Multi-...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.198051
更新日期:2017-06-01 00:00:00
abstract::Fisher's geometric model was originally introduced to argue that complex adaptations must occur in small steps because of pleiotropic constraints. When supplemented with the assumption of additivity of mutational effects on phenotypic traits, it provides a simple mechanism for the emergence of genotypic epistasis from...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.199497
更新日期:2017-06-01 00:00:00
abstract::Age-related macular degeneration (AMD) is a leading cause of blindness in the developed world. While many AMD susceptibility variants have been identified, their influence on AMD progression has not been elucidated. Using data from two large clinical trials, Age-Related Eye Disease Study (AREDS) and AREDS2, we evaluat...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.196998
更新日期:2017-05-01 00:00:00
abstract::Cell differentiation in yeast species is controlled by a reversible, programmed DNA-rearrangement process called mating-type switching. Switching is achieved by two functionally similar but structurally distinct processes in the budding yeast Saccharomyces cerevisiae and the fission yeast Schizosaccharomyces pombe In ...
journal_title:Genetics
pub_type: 杂志文章,评审
doi:10.1534/genetics.117.202036
更新日期:2017-05-01 00:00:00
abstract::Injury triggers regeneration of axons and dendrites. Research has identified factors required for axonal regeneration outside the CNS, but little is known about regeneration triggered by dendrotomy. Here, we study neuronal plasticity triggered by dendrotomy and determine the fate of complex PVD arbors following laser ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.196386
更新日期:2017-05-01 00:00:00
abstract::We address the task of genotype imputation to a dense reference panel given genotype likelihoods computed from ultralow coverage sequencing as inputs. In this setting, the data have a high-level of missingness or uncertainty, and are thus more amenable to a probabilistic representation. Most existing imputation algori...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.117.200063
更新日期:2017-05-01 00:00:00
abstract::An elevated mutation rate can provide cells with a source of mutations to adapt to changing environments. We identified a negative epistatic interaction involving naturally occurring variants in the MLH1 and PMS1 mismatch repair (MMR) genes of Saccharomyces cerevisiae We hypothesized that this MMR incompatibility, cre...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.199513
更新日期:2017-04-01 00:00:00
abstract::Individual inbreeding and historical demography can be estimated by analyzing runs of homozygosity (ROH), which are indicative of chromosomal segments of identity by descent (IBD). Such analyses have so far been rare in natural populations due to limited genomic resources. We analyzed ROH in whole genome sequences fro...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.198861
更新日期:2017-03-01 00:00:00
abstract::Genome-wide association studies have identified thousands of variants implicated in dozens of complex diseases. Most studies collect individuals with and without disease and search for variants with different frequencies between the groups. For many of these studies, additional disease traits are also collected. Joint...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.198473
更新日期:2017-03-01 00:00:00
abstract::We study the mechanisms that guide the formation and maintenance of the highly ordered actin-myosin cytoskeleton in striated muscle. The UNC-82 kinase of Caenorhabditis elegans is orthologous to mammalian kinases ARK5/NUAK1 and SNARK/NUAK2. UNC-82 localizes to the M-line, and is required for proper organization of thi...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193029
更新日期:2017-03-01 00:00:00
abstract::Retrotransposons are mobile genetic elements that colonize eukaryotic genomes by replicating through an RNA intermediate. As retrotransposons can move within the host genome, defense mechanisms have evolved to repress their potential mutagenic activities. In the fission yeast Schizosaccharomyces pombe, the mRNA of Tf2...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193870
更新日期:2017-02-01 00:00:00
abstract::Our understanding of the cellular mechanisms by which animals regulate their response to starvation is limited, despite the strong relevance of the problem to major human health issues. The L1 diapause of Caenorhabditis elegans, where first-stage larvae arrest in response to a food-less environment, is an excellent sy...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.194282
更新日期:2017-02-01 00:00:00
abstract::Dispersal is a crucial factor in natural evolution, since it determines the habitat experienced by any population and defines the spatial scale of interactions between individuals. There is compelling evidence for systematic differences in dispersal characteristics within the same population, i.e., genotype-dependent ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193946
更新日期:2017-01-01 00:00:00
abstract::In eukaryotic cells, the organization of genomic DNA into chromatin regulates many biological processes, from the control of gene expression to the regulation of chromosome segregation. The proper maintenance of this structure upon cell division is therefore of prime importance during development for the maintenance o...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.190785
更新日期:2017-01-01 00:00:00
abstract::With the rise of both the number and the complexity of traits of interest, control of the false discovery rate (FDR) in genetic association studies has become an increasingly appealing and accepted target for multiple comparison adjustment. While a number of robust FDR-controlling strategies exist, the nature of this ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193987
更新日期:2017-01-01 00:00:00
abstract::Synthetics play an important role in quantitative genetic research and plant breeding, but few studies have investigated the application of genomic prediction (GP) to these populations. Synthetics are generated by intermating a small number of parents ([Formula: see text] and thereby possess unique genetic properties,...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193243
更新日期:2017-01-01 00:00:00
abstract::Pontocerebellar hypoplasia type 1b (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal motor neuron degeneration, leading to mortality in early childhood. PCH1b is caused by mutations in the RNA exosome subunit gene, EXOSC3 The RNA exosome is an evolutionarily conserved complex, con...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.195917
更新日期:2017-01-01 00:00:00
abstract::The Thomas Hunt Morgan Medal is awarded to an individual Genetics Society of America member for lifetime achievement in the field of genetics. It recognizes the full body of work of an exceptional geneticist. The 2016 recipient is Nancy Kleckner, who has made many significant contributions to our understanding of chro...
journal_title:Genetics
pub_type: 历史文章,杂志文章
doi:10.1534/genetics.116.197608
更新日期:2016-12-01 00:00:00
abstract::As the dynamic nature of progenitor genomes accompanies the speciation by interspecific hybridization, the extraction of the constituent subgenome(s) from a natural allopolyploid species of long history and then restitution of the progenitor(s) provides the unique opportunity to study the genome evolution and interpla...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.190967
更新日期:2016-11-01 00:00:00
abstract::Key steps of essential metabolic pathways are housed in plant peroxisomes. We conducted a microscopy-based screen for anomalous distribution of peroxisomally targeted fluorescence in Arabidopsis thaliana This screen uncovered 34 novel alleles in 15 genes affecting oil body mobilization, fatty acid β-oxidation, the gly...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193169
更新日期:2016-11-01 00:00:00
abstract::Methods for inference and interpretation of evolutionary quantitative genetic parameters, and for prediction of the response to selection, are best developed for traits with normal distributions. Many traits of evolutionary interest, including many life history and behavioral traits, have inherently nonnormal distribu...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.186536
更新日期:2016-11-01 00:00:00
abstract::Mutator and antimutator alleles often arise and spread in both natural microbial populations and laboratory evolution experiments. The evolutionary dynamics of these mutation rate modifiers are determined by indirect selection on linked beneficial and deleterious mutations. These indirect selection pressures have been...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.193565
更新日期:2016-11-01 00:00:00
abstract::Hydroxyurea (HU) has been used for the treatment of multiple diseases, such as cancer. The therapeutic effect is generally believed to be due to the suppression of ribonucleotide reductase (RNR), which slows DNA polymerase movement at replication forks and induces an S phase cell cycle arrest in proliferating cells. A...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.191536
更新日期:2016-11-01 00:00:00
abstract::The correct wiring of neuronal circuits depends on outgrowth and guidance of neuronal processes during development. In the past two decades, great progress has been made in understanding the molecular basis of axon outgrowth and guidance. Genetic analysis in Caenorhabditis elegans has played a key role in elucidating ...
journal_title:Genetics
pub_type: 杂志文章,评审
doi:10.1534/genetics.115.186262
更新日期:2016-11-01 00:00:00
abstract::Centromeres are responsible for the correct segregation of chromosomes during mitosis and meiosis. Holocentric chromosomes, characterized by multiple centromere units along each chromatid, have particular adaptations to ensure regular disjunction during meiosis. Here we show by detecting CENH3, CENP-C, tubulin, and ce...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.191213
更新日期:2016-10-01 00:00:00
abstract::Argonaute2 (Ago2) is a rapidly evolving nuclease in the Drosophila melanogaster RNA interference (RNAi) pathway that targets viruses and transposable elements in somatic tissues. Here we reconstruct the history of Ago2 duplications across the D. obscura group and use patterns of gene expression to infer new functional...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.192336
更新日期:2016-10-01 00:00:00
abstract::Host variation in Toll-like receptors and other innate immune signaling molecules alters infection susceptibility. However, only a portion of the variability observed in the innate immune response is accounted for by known genes in these pathways. Thus, the identification of additional genes that regulate the response...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.185314
更新日期:2016-09-01 00:00:00
abstract::The characterization of the distribution of mutational effects is a key goal in evolutionary biology. Recently developed deep-sequencing approaches allow for accurate and simultaneous estimation of the fitness effects of hundreds of engineered mutations by monitoring their relative abundance across time points in a si...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.190462
更新日期:2016-09-01 00:00:00
abstract::Inverted chromosome duplications or palindromes are linked with genetic disorders and malignant transformation. They are considered by-products of DNA double-strand break (DSB) repair: the homologous recombination (HR) and the nonhomologous end joining (NHEJ). Palindromes near chromosome ends are often triggered by te...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.183020
更新日期:2016-08-01 00:00:00
abstract::A key quantity in the analysis of structured populations is the parameter K, which describes the number of subpopulations that make up the total population. Inference of K ideally proceeds via the model evidence, which is equivalent to the likelihood of the model. However, the evidence in favor of a particular value o...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.180992
更新日期:2016-08-01 00:00:00
abstract::The human fungal pathogen Candida albicans can reversibly switch between two cell types named "white" and "opaque," each of which is stable through many cell divisions. These two cell types differ in their ability to mate, their metabolic preferences and their interactions with the mammalian innate immune system. A hi...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.190645
更新日期:2016-08-01 00:00:00
abstract::Adaptation in diploids is predicted to proceed via mutations that are at least partially dominant in fitness. Recently, we argued that many adaptive mutations might also be commonly overdominant in fitness. Natural (directional) selection acting on overdominant mutations should drive them into the population but then,...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.185165
更新日期:2016-07-01 00:00:00
abstract::The eukaryotic cytoplasm contains a variety of ribonucleoprotein (RNP) granules in addition to the better-understood membrane-bound organelles. These granules form in response to specific stress conditions and contain a number of signaling molecules important for the control of cell growth and survival. However, relat...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.187419
更新日期:2016-07-01 00:00:00
abstract::Robust and synchronous repression of E2F-dependent gene expression is critical to the proper timing of cell cycle exit when cells transition to a postmitotic state. Previously NuA4 was suggested to act as a barrier to proliferation in Drosophila by repressing E2F-dependent gene expression. Here we show that NuA4 activ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.188581
更新日期:2016-07-01 00:00:00
abstract::Research on the genetics of natural populations was revolutionized in the 1990s by methods for genotyping noninvasively collected samples. However, these methods have remained largely unchanged for the past 20 years and lag far behind the genomics era. To close this gap, here we report an optimized laboratory protocol...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.187492
更新日期:2016-06-01 00:00:00
abstract::Dis3 encodes a conserved RNase that degrades or processes all RNA species via an N-terminal PilT N terminus (PIN) domain and C-terminal RNB domain that harbor, respectively, endonuclease activity and 3'-5' exonuclease activity. In Schizosaccharomyces pombe, dis3 mutations cause chromosome missegregation and failure in...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.187930
更新日期:2016-06-01 00:00:00
abstract::The trace element iron is crucial for living organisms, since it plays essential roles in numerous cellular functions. Systemic iron overload and the elevated level of ferritin, a ubiquitous intracellular protein that stores and releases iron to maintain the iron homeostasis in cells, has long been epidemiologically a...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.186742
更新日期:2016-05-01 00:00:00
abstract::Diversity in insect pigmentation, encompassing a wide range of colors and spatial patterns, is among the most noticeable features distinguishing species, individuals, and body regions within individuals. In holometabolous species, a significant portion of such diversity can be attributed to the melanin synthesis genes...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.186684
更新日期:2016-05-01 00:00:00
abstract::G-protein-coupled receptors (GPCRs) are integral membrane proteins that initiate stimulus-dependent activation of cognate heterotrimeric G-proteins, triggering ensuing downstream cellular responses. Tight regulation of GPCR-evoked pathways is required because prolonged stimulation can be detrimental to an organism. St...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.186122
更新日期:2016-05-01 00:00:00
abstract::In vivo haploid induction (HI) triggered by pollination with special intraspecific genotypes, called inducers, is unique to Zea maysL. within the plant kingdom and has revolutionized maize breeding during the last decade. However, the molecular mechanisms underlying HI in maize are still unclear. To investigate the ge...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.184234
更新日期:2016-04-01 00:00:00