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::The nuclear envelope in Saccharomyces cerevisiae harbors two essential macromolecular protein assemblies: the nuclear pore complexes (NPCs) that enable nucleocytoplasmic transport, and the spindle pole bodies (SPBs) that mediate chromosome segregation. Previously, based on metazoan and budding yeast studies, we report...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.141465
更新日期:2012-10-01 00:00:00
abstract::The N-terminal tail of Ndc80 is essential for kinetochore-microtubule binding in human cells but is not required for viability in yeast. We show that the yeast Ndc80 tail is required for timely mitotic progression and accurate chromosome segregation. The tail is essential when cells are limited for Dam1, demonstrating...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.143818
更新日期:2012-10-01 00:00:00
abstract::Kinesin-1 is a motor protein that moves stepwise along microtubules by employing dimerized kinesin heavy chain (Khc) subunits that alternate cycles of microtubule binding, conformational change, and ATP hydrolysis. Mutations in the Drosophila Khc gene are known to cause distal paralysis and lethality preceded by the o...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.140798
更新日期:2012-09-01 00:00:00
abstract::The Caenorhabditis elegans pRb ortholog, LIN-35, functions in a wide range of cellular and developmental processes. This includes a role of LIN-35 in nutrient utilization by the intestine, which it carries out redundantly with SLR-2, a zinc-finger protein. This and other redundant functions of LIN-35 were identified i...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.140152
更新日期:2012-08-01 00:00:00
abstract::Hybrid sterility in the heterogametic sex is a common feature of speciation in animals. In house mice, the contribution of the Mus musculus musculus X chromosome to hybrid male sterility is large. It is not known, however, whether F1 male sterility is caused by X-Y or X-autosome incompatibilities or a combination of b...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.141804
更新日期:2012-08-01 00:00:00
abstract::In vertebrates, mitotic and meiotic M phase is facilitated by the kinase Greatwall (Gwl), which phosphorylates a conserved sequence in the effector Endosulfine (Endos). Phosphorylated Endos inactivates the phosphatase PP2A/B55 to stabilize M-phase-specific phosphorylations added to many proteins by cyclin-dependent ki...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.140574
更新日期:2012-08-01 00:00:00
abstract::Notch is a receptor that mediates cell-cell interactions in animal development, and aberrations in Notch signal transduction can cause cancer and other human diseases. Here, I describe the major advances in the Notch field from the identification of the first mutant in Drosophila almost a century ago through the eluci...
journal_title:Genetics
pub_type: 杂志文章,评审
doi:10.1534/genetics.112.141812
更新日期:2012-07-01 00:00:00
abstract::Immunosenescence, the age-related decline in immune system function, is a general hallmark of aging. While much is known about the cellular and physiological changes that accompany immunosenescence, we know little about the genetic influences on this phenomenon. In this study we combined age-specific measurements of b...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.140640
更新日期:2012-07-01 00:00:00
abstract::Although neurons are highly polarized, how neuronal polarity is generated remains poorly understood. An evolutionarily conserved inositol-producing enzyme myo-inositol monophosphatase (IMPase) is essential for polarized localization of synaptic molecules in Caenorhabditis elegans and can be inhibited by lithium, a dru...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.137844
更新日期:2012-06-01 00:00:00
abstract::The Podospora anserina PaMpk1 MAP kinase (MAPK) signaling pathway can generate a cytoplasmic and infectious element resembling prions. When present in the cells, this C element causes the crippled growth (CG) cell degeneration. CG results from the inappropriate autocatalytic activation of the PaMpk1 MAPK pathway durin...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.139469
更新日期:2012-06-01 00:00:00
abstract::The effective population size (N(e)) is notoriously difficult to accurately estimate in wild populations as it is influenced by a number of parameters that are difficult to delineate in natural systems. The different methods that are used to estimate N(e) are affected variously by different processes at the population...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.136580
更新日期:2012-06-01 00:00:00
abstract::The segregation and random assortment of characters observed by Mendel have their basis in the behavior of chromosomes in meiosis. But showing this actually to be the case requires a correct understanding of the meiotic behavior of chromosomes. This was achieved only gradually, over several decades, with much dispute ...
journal_title:Genetics
pub_type: 传,历史文章,杂志文章
doi:10.1534/genetics.112.139733
更新日期:2012-06-01 00:00:00
abstract::Selective sweeps are typically associated with a local reduction of genetic diversity around the adaptive site. However, selective sweeps can also quickly carry neutral mutations to observable population frequencies if they arise early in a sweep and hitchhike with the adaptive allele. We show that the interplay betwe...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.138461
更新日期:2012-06-01 00:00:00
abstract::Transmission ratio distortion (TRD) is the departure from the expected genotypic frequencies under Mendelian inheritance. This departure can be due to multiple physiological mechanisms during gametogenesis, fertilization, fetal and embryonic development, and early neonatal life. Although a few TRD loci have been repor...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.135988
更新日期:2012-05-01 00:00:00
abstract::In Saccharomyces cerevisiae, 59 of the 78 ribosomal proteins are encoded by duplicated genes that, in most cases, encode identical or very similar protein products. However, different sets of ribosomal protein genes have been identified in screens for various phenotypes, including life span, budding pattern, and drug ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.136549
更新日期:2012-05-01 00:00:00
abstract::In both pedigree linkage studies and in population-based association studies there has been much interest in the use of modern dense genetic marker data to infer segments of gene identity by descent (ibd) among individuals not known to be related, to increase power and resolution in localizing genes affecting complex ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.137570
更新日期:2012-04-01 00:00:00
abstract::Neurons and glia display remarkable morphological plasticity, and remodeling of glia may facilitate neuronal shape changes. The molecular basis and control of glial shape changes is not well understood. In response to environmental stress, the nematode Caenorhabditis elegans enters an alternative developmental state, ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.137786
更新日期:2012-04-01 00:00:00
abstract::In diploid eukaryotes, repair of double-stranded DNA breaks by homologous recombination often leads to loss of heterozygosity (LOH). Most previous studies of mitotic recombination in Saccharomyces cerevisiae have focused on a single chromosome or a single region of one chromosome at which LOH events can be selected. I...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.137927
更新日期:2012-04-01 00:00:00
abstract::Notch signaling pathways can be regulated through a variety of cellular mechanisms, and genetically compromised systems provide useful platforms from which to search for the responsible modulators. The Caenorhabditis elegans gene aph-1 encodes a component of γ-secretase, which is essential for Notch signaling events t...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.136804
更新日期:2012-03-01 00:00:00
abstract::Variations in K(+) channel composition allow for differences in cell excitability and, at an organismal level, provide flexibility to behavioral regulation. When the function of a K(+) channel is disrupted, the remaining K(+) channels might incompletely compensate, manifesting as abnormal organismal behavior. In this ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.137455
更新日期:2012-03-01 00:00:00
abstract::Mitochondrial DNA (mtDNA) deletions are associated with sporadic and inherited diseases and age-associated neurodegenerative disorders. Approximately 85% of mtDNA deletions identified in humans are flanked by short directly repeated sequences; however, mechanisms by which these deletions arise are unknown. A limitatio...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.138214
更新日期:2012-03-01 00:00:00
abstract::Bacteriophages are the most abundant biological entities in our biosphere, characterized by their hyperplasticity, mosaic composition, and the many unknown functions (ORFans) encoded by their immense genetic repertoire. These genes are potentially maintained by the bacteriophage to allow efficient propagation on hosts...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.135640
更新日期:2012-03-01 00:00:00
abstract::Specialized insect mouthparts, such as those of Drosophila, are derived from an ancestral mandibulate state, but little is known about the developmental genetics of mandibulate mouthparts. Here, we study the metamorphic patterning of mandibulate mouthparts of the beetle Tribolium castaneum, using RNA interference to d...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.134296
更新日期:2012-02-01 00:00:00
abstract::Gene duplication is arguably the most significant source of new functional genetic material. A better understanding of the processes that lead to the stable incorporation of gene duplications into the genome is important both because it relates to interspecific differences in genome composition and because it can shed...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.135590
更新日期:2012-02-01 00:00:00
abstract::We use the ancestral influence graph (AIG) for a two-locus, two-allele selection model in the limit of a large population size to obtain an analytic approximation for the probability of ultimate fixation of a single mutant allele A. We assume that this new mutant is introduced at a given locus into a finite population...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.136309
更新日期:2012-02-01 00:00:00
abstract::The classic diallel takes a set of parents and produces offspring from all possible mating pairs. Phenotype values among the offspring can then be related back to their respective parentage. When the parents are diploid, sexed, and inbred, the diallel can characterize aggregate effects of genetic background on a pheno...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.132563
更新日期:2012-02-01 00:00:00
abstract::The rate of microsatellite mutation is dependent upon both the allele length and the repeat motif, but the exact nature of this relationship is still unknown. We analyzed data on the inheritance of human Y-chromosomal microsatellites in father-son duos, taken from 24 published reports and comprising 15,285 directly ob...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.132308
更新日期:2011-12-01 00:00:00
abstract::The distribution of fitness effects (DFE) of new mutations is of fundamental importance in evolutionary genetics. Recently, methods have been developed for inferring the DFE that use information from the allele frequency distributions of putatively neutral and selected nucleotide polymorphic variants in a population s...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.131730
更新日期:2011-12-01 00:00:00
abstract::We have used a novel method to activate the DNA damage S-phase checkpoint response in Saccharomyces cerevisiae to slow lagging-strand DNA replication by exposing cells expressing a drug-sensitive DNA polymerase δ (L612M-DNA pol δ) to the inhibitory drug phosphonoacetic acid (PAA). PAA-treated pol3-L612M cells arrest a...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.131938
更新日期:2011-12-01 00:00:00
abstract::Hotspots regulate the position and frequency of Spo11 (Rec12)-initiated meiotic recombination, but paradoxically they are suicidal and are somehow resurrected elsewhere in the genome. After the DNA sequence-dependent activation of hotspots was discovered in fission yeast, nearly two decades elapsed before the key real...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.134130
更新日期:2011-11-01 00:00:00
abstract::Regulation of transcription can be a complex process in which many cis- and trans-interactions determine the final pattern of expression. Among these interactions are trans-interactions mediated by the pairing of homologous chromosomes. These trans-effects are wide ranging, affecting gene regulation in many species an...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.133231
更新日期:2011-11-01 00:00:00
abstract::Gene expression in Anopheles gambiae shows a deficiency of testis-expressed genes on the X chromosome associated with an excessive movement of retrogene duplication. We suggest that the degeneration of sex chromosomes in this monandrous species is likely the result of pressures from X inactivation, dosage compensation...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.133157
更新日期:2011-11-01 00:00:00
abstract::The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for associat...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.131813
更新日期:2011-11-01 00:00:00
abstract::Metazoan genomes encode an abundant collection of mRNA-like, long noncoding (lnc)RNAs. Although lncRNAs greatly expand the transcriptional repertoire, we have a limited understanding of how these RNAs contribute to developmental regulation. Here, we investigate the function of the Drosophila lncRNA called yellow-achae...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.131706
更新日期:2011-10-01 00:00:00
abstract::Thyroid hormone has pleiotropic effects on cochlear development, and genomic variation influences the severity of associated hearing deficits. DW/J-Pou1f1dw/dw mutant mice lack pituitary thyrotropin, which causes severe thyroid hormone deficiency and profound hearing impairment. To assess the genetic complexity of pro...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.130633
更新日期:2011-10-01 00:00:00
abstract::The external genitalia are some of the most rapidly evolving morphological structures in insects. The posterior lobe of the male genital arch shows striking differences in both size and shape among closely related species of the Drosophila melanogaster species subgroup. Here, we dissect the genetic basis of posterior ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.130815
更新日期:2011-09-01 00:00:00
abstract::Inbreeding depression, which refers to reduced fitness among offspring of related parents, has traditionally been studied using pedigrees. In practice, pedigree information is difficult to obtain, potentially unreliable, and rarely assessed for inbreeding arising from common ancestors who lived more than a few generat...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.130922
更新日期:2011-09-01 00:00:00
abstract::Microtubules are dynamic structures that must elongate, disassemble, and be cleaved into smaller pieces for proper neuronal development and function. The AAA ATPase Spastin severs microtubules along their lengths and is thought to regulate the balance between long, stable filaments and shorter fragments that seed exte...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.130831
更新日期:2011-09-01 00:00:00
abstract::Genomic resources for hundreds of species of evolutionary, agricultural, economic, and medical importance are unavailable due to the expense of well-assembled genome sequences and difficulties with multigenerational studies. Teleost fish provide many models for human disease but possess anciently duplicated genomes th...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.127324
更新日期:2011-08-01 00:00:00
abstract::The fixation probability is determined when population size and selection change over time and differs from Kimura's result, with long-term implications for a population. It is found that changes in population size are not equivalent to the corresponding changes in selection and can result in less drift than anticipat...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.111.129288
更新日期:2011-08-01 00:00:00