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1.
J Evol Biol ; 30(1): 4-12, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27711984

RESUMO

When it comes to fitting simple allometric slopes through measurement data, evolutionary biologists have been torn between regression methods. On the one hand, there is the ordinary least squares (OLS) regression, which is commonly used across many disciplines of biology to fit lines through data, but which has a reputation for underestimating slopes when measurement error is present. On the other hand, there is the reduced major axis (RMA) regression, which is often recommended as a substitute for OLS regression in studies of allometry, but which has several weaknesses of its own. Here, we review statistical theory as it applies to evolutionary biology and studies of allometry. We point out that the concerns that arise from measurement error for OLS regression are small and straightforward to deal with, whereas RMA has several key properties that make it unfit for use in the field of allometry. The recommended approach for researchers interested in allometry is to use OLS regression on measurements taken with low (but realistically achievable) measurement error. If measurement error is unavoidable and relatively large, it is preferable to correct for slope attenuation rather than to turn to RMA regression, or to take the expected amount of attenuation into account when interpreting the data.


Assuntos
Biometria , Análise dos Mínimos Quadrados , Evolução Biológica , Humanos , Análise de Regressão
2.
J Evol Biol ; 30(1): 13-25, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27749022

RESUMO

Many animals exhibit social plasticity - changes in phenotype or behaviour in response to experience with conspecifics that change how evolutionary processes like sexual selection play out. Here, we asked whether social plasticity arising from variation in local population density in male advertisement signals and female mate preferences influences the form of sexual selection. We manipulated local density and determined whether this changed how the distribution of male signals overlapped with female preferences - the signal preference relationship. We specifically look at the shape of female mate preference functions, which, when compared to signal distributions, provide hypotheses about the form of sexual selection. We used Enchenopa binotata treehoppers, a group of plant-feeding insects that exhibit natural variation in local densities across individual host plants, populations, species and years. We measured male signal frequency and female preference functions across the density treatments. We found that male signals varied across local social groups, but not according to local density. By contrast, female preferences varied with local density - favouring higher signal frequencies in denser environments. Thus, local density changes the signal-preference relationship and, consequently, the expected form of sexual selection. We found no influence of sex ratio on the signal-preference relationship. Our findings suggest that plasticity arising from variation in local group density and composition can alter the form of sexual selection with potentially important consequences both for the maintenance of variation and for speciation.


Assuntos
Comunicação Animal , Hemípteros , Comportamento Sexual Animal , Animais , Evolução Biológica , Feminino , Masculino , Densidade Demográfica
3.
J Evol Biol ; 30(9): 1658-1673, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28556474

RESUMO

Mate preferences are important causes of sexual selection. They shape the evolution of sexual ornaments and displays, sometimes maintaining genetic diversity and sometimes promoting speciation. Mate preferences can be challenging to study because they are expressed in animal brains and because they are a function of the features of potential mates that are encountered. Describing them requires taking this into account. We present a method for describing and analysing mate preference functions, and introduce a freely available computer program that implements the method. We give an overview of how the program works, and we discuss how it can be used to visualize and quantitatively analyse preference functions. In addition, we provide an informal review of different methods of testing mate preferences, with recommendations for how best to set up experiments on mate preferences. Although the program was written with mate preferences in mind, it can be used to study any function-valued trait, and we hope researchers will take advantage of it across a broad range of traits.


Assuntos
Variação Genética , Fenótipo , Animais , Preferência de Acasalamento Animal , Modelos Teóricos , Software
4.
J Evol Biol ; 29(4): 766-76, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26749493

RESUMO

Sexual signals are conspicuous sources of information about neighbouring competitors, and species in which males and females signal during pair formation provide various sources of public information to which individuals can adjust their behaviour. We performed two experiments with a duetting vibrational insect, Enchenopa binotata treehoppers (Hemiptera: Membracidae), to ask whether males adjust their signalling behaviour according to (1a) their own experience of competitors' signals, (1b) how females adjust their mate preferences on the basis of their experience of male signals (described in prior work), and/or (2) their own experience of female response signals to competitors' signals. We presented males with synthetic male signals of different frequencies and combinations thereof for 2 weeks. We recorded males a day after their last signal exposure, finding that (1a) male signal rate increased in response to experience of attractive competitors, but that (1b) male signal frequency did not shift in a manner consistent with how females adjust their mate preferences in those experience treatments. Second, we presented males with different male-female duets for 2 weeks, finding that (2) male signal length increased from experience of female duets with attractive competitors. Males thus make two types of adjustment according to two sources of public information: one provided by experience of male signals and another by experience of female responses to male signals. Signalling plasticity can generate feedback loops between the adjustments that males and females make, and we discuss the potential consequences of such feedback loops for the evolution of communication systems.


Assuntos
Comunicação Animal , Hemípteros/fisiologia , Comportamento Sexual Animal/fisiologia , Animais , Evolução Biológica , Feminino , Masculino
5.
Int J Neurosci ; 126(10): 928-35, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26289935

RESUMO

BACKGROUND: Nonmotor symptoms in dystonia are increasingly recognized to impair the quality of life. The primary objective of this study was to determine the prevalence of fatigue and sleep disturbances in dystonia and to ascertain their impact on quality of life using standardized questionnaires. METHODS: Dystonia patients presenting to a Botulinum toxin clinic were prospectively administered Fatigue Severity Scale (FSS), Multidimensional Fatigue Inventory (MFI), Epworth Sleepiness Scale (ESS) and Parkinson's Disease Sleep Scale (PDSS) for assessment of fatigue and sleep disturbances. Health-related Quality of life (HRQOL) was determined using MOS SF-36 scale and depressive symptoms were assessed using the Beck Depression Inventory II. RESULTS: Ninety-one patients with dystonia participated (66 women, 25 men, mean age 60 ± 17 years). Nine subjects had generalized dystonia, 18 segmental dystonia and 64 had focal dystonia. Moderate to severe fatigue was present in 43% of the cohort (FSS), excessive daytime somnolence in 27% (ESS) and other sleep disturbances in 26% (PDSS). FSS and MFI scores correlated significantly with HRQOL even when controlled for depression and sleep disturbances. Excessive daytime somnolence and nocturnal sleep disturbances correlated significantly with the HRQOL; however, these effects were not seen for daytime somnolence when controlled for depression. Psychometric testing found adequate reliabilities and convergent validities for both fatigue and sleep scales. CONCLUSION: Fatigue and sleep disturbances revealed high prevalence rates in this large, first of its dystonia study. They negatively impacted the quality of life even when controlled for comorbid depression.


Assuntos
Distúrbios Distônicos/complicações , Fadiga/etiologia , Transtornos do Sono-Vigília/etiologia , Adulto , Idoso , Estudos de Coortes , Distúrbios do Sono por Sonolência Excessiva/epidemiologia , Distúrbios do Sono por Sonolência Excessiva/etiologia , Distúrbios Distônicos/epidemiologia , Fadiga/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Transtornos do Sono-Vigília/epidemiologia
6.
Appl Environ Microbiol ; 81(2): 688-98, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25398857

RESUMO

Multilocus variable-number tandem-repeat analysis (MLVA) is efficient for routine typing and for investigating the genetic structures of natural microbial populations. Two distinct pathovars of Xanthomonas oryzae can cause significant crop losses in tropical and temperate rice-growing countries. Bacterial leaf streak is caused by X. oryzae pv. oryzicola, and bacterial leaf blight is caused by X. oryzae pv. oryzae. For the latter, two genetic lineages have been described in the literature. We developed a universal MLVA typing tool both for the identification of the three X. oryzae genetic lineages and for epidemiological analyses. Sixteen candidate variable-number tandem-repeat (VNTR) loci were selected according to their presence and polymorphism in 10 draft or complete genome sequences of the three X. oryzae lineages and by VNTR sequencing of a subset of loci of interest in 20 strains per lineage. The MLVA-16 scheme was then applied to 338 strains of X. oryzae representing different pathovars and geographical locations. Linkage disequilibrium between MLVA loci was calculated by index association on different scales, and the 16 loci showed linear Mantel correlation with MLSA data on 56 X. oryzae strains, suggesting that they provide a good phylogenetic signal. Furthermore, analyses of sets of strains for different lineages indicated the possibility of using the scheme for deeper epidemiological investigation on small spatial scales.


Assuntos
Repetições Minissatélites , Tipagem Molecular , Oryza/microbiologia , Doenças das Plantas/microbiologia , Xanthomonas/classificação , Xanthomonas/genética , Monitoramento Epidemiológico , Epidemiologia Molecular/métodos
7.
Ethol Ecol Evol ; 27(4): 412-431, 2015 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-26778894

RESUMO

In many animal groups, the size of male genitalia scales shallowly with individual body size. This widespread pattern appears to admit some exceptions. For instance, steep allometries have been reported for vertebrate genitalia. This exception, however, may be due to a confounding effect arising from the continued growth of some structures during adulthood in vertebrates. Consider the possibility that genitalia continue to grow in adults while body size does not. If so, taking measurements from adults of different ages could yield steeper allometries than would be obtained from measurements of adults of the same age. We used vervet monkeys to test this hypothesis. We found that all body parts continued to grow in adult vervet monkeys, with sexual traits (including genitalia) showing faster growth rates. Traits with faster growth rates over adult ages had steeper allometries. And accounting for variation in adult age yielded shallower allometries, bringing vervet monkey genitalia in line with the predominant pattern observed in other animal groups. These results suggest that steep allometric slope estimates reported for other vertebrates may be due in part to mixing of adult ages, and reinforces one of the most consistent patterns yet detected in the study of static allometry.

8.
J Evol Biol ; 26(2): 434-42, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23252651

RESUMO

Study of the genetic and developmental architecture of mate preferences lags behind the study of sexual ornaments. This is in part because of the challenges involved in describing mate preferences, which are expressed as a function of variation in ornaments. We used the function-valued approach to test for genetic and environmental components of variation in female mate preferences in Enchenopa treehoppers (Hemiptera: Membracidae). These insects communicate with plant-borne vibrational signals, and offer a case study of speciation involving sexual selection and environmental change. We focused on female preferences for male signal frequency, the most divergent signal trait in Enchenopa. Obtaining complete, individual-level descriptions of mate preferences in a full-sib, split-family rearing experiment, we document substantial genetic variation in mate preference functions. Focusing on traits describing variation in the shape of the preference functions, we further document considerable broad-sense heritability and evidence of weak genotype × environment interaction in most traits. Against the background of recent and rapid divergence in Enchenopa, these results indicate potent mechanisms that maintain variation and sustain the involvement of mate preferences in sexual selection.


Assuntos
Meio Ambiente , Variação Genética , Hemípteros/fisiologia , Comportamento Sexual Animal/fisiologia , Animais , Feminino , Hemípteros/genética , Masculino
9.
J Evol Biol ; 25(9): 1897-901, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22805149

RESUMO

Theory predicts that genetic variation in phenotypic plasticity (genotype × environment interaction or G × E) should be eroded by selection acting across environments. However, it appears that G × E is often maintained under selection, although not universally. This variation in the presence and strength of G × E requires explanation. Here I ask whether the explanation may lie in the grain of the environment at which G × E is expressed. The grain (or grain size) of the environment refers to the scale of environmental heterogeneity relative to generation time - that is, relative to the window of operation of selection - with higher rates of heterogeneity occurring in finer-grained environments. The hypothesis that the grain of the environment explains variation in the expression of G × E encapsulates variation in the power of selection to shape reaction norms: selection should be able to erode G × E in fine-grained environments but lose its power as the grain becomes coarser. I survey studies of G × E in sexual traits and demonstrate that the strength of G × E varies with the grain of the environment across which it is expressed, with G × E being stronger in coarser-grained environments. This result elucidates when G × E is most likely to be sustained in the reaction norms of fitness-related traits and when its evolutionary consequences will be most pronounced.


Assuntos
Meio Ambiente , Interação Gene-Ambiente , Variação Genética , Adaptação Fisiológica , Evolução Biológica , Aptidão Genética , Modelos Lineares , Característica Quantitativa Herdável , Seleção Genética , Fatores de Tempo
10.
J Evol Biol ; 25(9): 1855-63, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22817109

RESUMO

Experience of sexual signals can alter mate preferences and influence the course of sexual selection. Here, we examine the patterns of experience-mediated plasticity in mate preferences that can arise in response to variation in the composition of mates in the environment. We use these patterns to test hypotheses about potential sources of selection favouring experience-mediated plasticity. We manipulated signal experience of female Enchenopa treehoppers (Hemiptera: Membracidae) in a vibrational playback experiment with the following treatments: silence; two types of non-preferred signals; preferred signals; and a mixture of preferred and non-preferred signals. This experiment revealed plasticity in mate preference selectivity, with greatest selectivity in the mixed signal treatment, followed by the preferred signal treatment. We found no plasticity in peak preference. These results suggest that females have been selected to adjust preference selectivity according to the variability of potential mates in their social environment, as well as to the presence/absence of preferred mates. We discuss how experience-mediated plasticity in mate preferences can influence the strength of selection on male signals and can result in evolutionary dynamics between variation in preferences and signals that either promote the maintenance of variation or facilitate rapid trait fixation.


Assuntos
Adaptação Psicológica , Evolução Biológica , Hemípteros/fisiologia , Preferência de Acasalamento Animal/fisiologia , Comunicação Animal , Animais , Comportamento de Escolha , Feminino , Modelos Lineares , Masculino , Meio Social , Especificidade da Espécie
11.
Am J Occup Ther ; 65(5): 579-88, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22026326

RESUMO

OBJECTIVE: We used screening tests administered by a certified driving rehabilitation specialist and by Parkinson's disease (PD) specialty neurologists to develop a model to predict on-road outcomes for patients with PD. METHOD: We administered a battery of screening tests to 41 patients with PD and 41 age-matched control participants before on-road testing. We used statistical models to predict actual on-road performance. RESULTS: The PD group had a higher failure rate, indicating more on-road errors. For the PD participants, the Useful Field of View (UFOV) Subtest 2 and Rapid Pace Walk were responsible for most of the variance in the on-road test. The model accurately categorized pass-fail outcomes for 81% of PD patients. CONCLUSION: Clinical screening batteries may be predictive of driving performance in PD. The UFOV Subtest 2, administered in approximately 15 min, may be the single most useful clinical test for such predictions.


Assuntos
Condução de Veículo , Doença de Parkinson/fisiopatologia , Doença de Parkinson/psicologia , Desempenho Psicomotor , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Avaliação da Deficiência , Feminino , Florida , Humanos , Modelos Logísticos , Masculino , Testes Neuropsicológicos/normas , Doença de Parkinson/diagnóstico , Projetos Piloto , Psicometria , Percepção Visual
12.
Eur J Neurol ; 17(8): 1040-6, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20113336

RESUMO

PURPOSE: The aim of this study was to evaluate the effects of unilateral and bilateral ventralis intermedius (Vim) deep brain stimulation (DBS) on mood and motor function. METHODS: Thirty-one consecutive medication refractory patients with essential tremor who underwent unilateral or bilateral Vim DBS at University of Florida and returned for at least 6 -month follow-up completed the Visual Analog Mood (VAMS), the Beck Depression Inventory (BDI), and the Tremor Rating Scale (TRS) before and after surgery. We excluded all patients who were implanted at other institutions. RESULTS: The tense subscale of the VAMS improved significantly in both the unilateral and bilateral DBS groups (P < 0.001). On the VAMS afraid subscale, only the bilateral group trended toward improvement (P = 0.075). There were no significant changes for either group for the happy, confused, sad, angry, energetic or tired VAMS scores. TRS subscale scores all improved after unilateral and bilateral Vim DBS surgery (P < 0.001). CONCLUSIONS: Feelings of tenseness, tremor severity and ADLs improved following unilateral or bilateral Vim DBS for ET.


Assuntos
Afeto/fisiologia , Tremor Essencial/terapia , Atividade Motora/fisiologia , Tálamo/cirurgia , Idoso , Análise de Variância , Estimulação Encefálica Profunda , Depressão/fisiopatologia , Tremor Essencial/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença , Tálamo/fisiopatologia , Resultado do Tratamento
13.
J Neurol Neurosurg Psychiatry ; 80(7): 794-7, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19237386

RESUMO

OBJECTIVE: To determine how intraoperative microelectrode recordings (MER) and intraoperative lead placement acutely influence tremor, rigidity, and bradykinesia. Secondarily, to evaluate whether the longevity of the MER and lead placement effects were influenced by target location (subthalamic nucleus (STN) or globus pallidus interna (GPi)). BACKGROUND: Currently most groups who perform deep brain stimulation (DBS) for Parkinson disease (PD) use MER, as well as macrostimulation (test stimulation), to refine DBS lead position. Following MER and/or test stimulation, however, there may be a resultant "collision/implantation" or "microlesion" effect, thought to result from disruption of cells and/or fibres within the penetrated region. These effects have not been carefully quantified. METHODS: 47 consecutive patients with PD undergoing unilateral DBS for PD (STN or GPi DBS) were evaluated. Motor function was measured at six time points with a modified motor Unified Parkinson Disease Rating Scale (UPDRS): (1) preoperatively, (2) immediately after MER, (3) immediately after lead implantation/collision, (4) 4 months following surgery-off medications, on DBS (12 h medication washout), (5) 6 months postoperatively-off medication and off DBS (12 h washout) and (6) 6 months-on medication and off DBS (12 h washout). RESULTS: Significant improvements in motor scores (p<0.05) (tremor, rigidity, bradykinesia) were observed as a result of MER and lead placement. The improvements were similar in magnitude to what was observed at 4 and 6 months post-DBS following programming and medication optimisation. When washed out (medications and DBS) for 12 h, UPDRS motor scores were still improved compared with preoperative testing. There was a larger improvement in STN compared with GPi following MER (p<0.05) and a trend for significance following lead placement (p<0.08) but long term outcome was similar. CONCLUSION: This study demonstrated significant acute intraoperative penetration effects resulting from MER and lead placement/collision in PD. Clinicians rating patients in the operating suite should be aware of these effects, and should consider pre- and post-lead placement rating scales prior to activating DBS. The collision/implantation effects were greater intraoperatively with STN compared with GPi, and with greater disease duration there was a larger effect.


Assuntos
Estimulação Encefálica Profunda/métodos , Globo Pálido/cirurgia , Movimento , Doença de Parkinson/cirurgia , Núcleo Subtalâmico/cirurgia , Idoso , Antiparkinsonianos/uso terapêutico , Terapia Combinada , Eletrodos Implantados/estatística & dados numéricos , Feminino , Seguimentos , Globo Pálido/fisiopatologia , Humanos , Hipocinesia/tratamento farmacológico , Hipocinesia/fisiopatologia , Hipocinesia/cirurgia , Levodopa/uso terapêutico , Masculino , Microeletrodos/estatística & dados numéricos , Pessoa de Meia-Idade , Movimento/efeitos dos fármacos , Rigidez Muscular/tratamento farmacológico , Rigidez Muscular/fisiopatologia , Rigidez Muscular/cirurgia , Procedimentos Neurocirúrgicos/métodos , Doença de Parkinson/diagnóstico , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/fisiopatologia , Núcleo Subtalâmico/fisiopatologia , Resultado do Tratamento , Tremor/tratamento farmacológico , Tremor/fisiopatologia , Tremor/cirurgia
14.
J Evol Biol ; 22(3): 435-45, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19170826

RESUMO

The male genitalia of arthropods consistently show negative static allometry (the genitalia of small males of a species are disproportionally large, and those of large males are disproportionally small). We discuss relations between the 'one-size-fits-all' hypothesis to explain this allometry and the regimes of selection that may be acting on genitalia. We focus on the contrasts between directional vs. stabilizing selection, and natural vs. sexual selection. In addition, we point out some common methodological problems in studies of genital allometry. One-size-fits-all types of arguments for negative allometry imply net stabilizing selection, but the effects of stabilizing selection on allometry will be weaker when the correlation between body size and the trait size is weaker. One-size-fits-all arguments can involve natural as well as sexual selection, and negative allometry can also result from directional selection. Several practical problems make direct tests of whether directional or stabilizing selection is acting difficult. One common methodological problem in previous studies has been concentration on absolute rather than relative values of the allometric slopes of genitalia; there are many reasons to doubt the usefulness of comparing absolute slopes with the usual reference value of 1.00. Another problem has been the failure to recognize that size and shape are independent traits of genitalia; rapid divergence in the shape of genitalia is thus not paradoxical with respect to the reduced variation in their sizes that is commonly associated with negative allometric scaling.


Assuntos
Artrópodes/anatomia & histologia , Animais , Artrópodes/fisiologia , Feminino , Genitália/anatomia & histologia , Masculino , Preferência de Acasalamento Animal , Modelos Biológicos , Seleção Genética
15.
mSystems ; 3(6)2018.
Artigo em Inglês | MEDLINE | ID: mdl-30574557

RESUMO

Penicillin (PEN) is a low-cost option for anthrax treatment, but naturally occurring resistance has been reported. ß-Lactamase expression (bla1, bla2) in Bacillus anthracis is regulated by a sigma factor (SigP) and its cognate anti-sigma factor (RsiP). Mutations leading to truncation of RsiP were previously described as a basis for PEN resistance. Here, we analyze whole-genome sequencing (WGS) data and compare the chromosomal sigP-bla1 regions from 374 B. anthracis strains to determine the frequency of mutations, identify mutations associated with PEN resistance, and evaluate the usefulness of WGS for predicting PEN resistance. Few (3.5%) strains contained at least 1 of 11 different mutations in sigP, rsiP, or bla1. Nine of these mutations have not been previously associated with PEN resistance. Four strains showed PEN resistance (PEN-R) by conventional broth microdilution, including 1 strain with a novel frameshift in rsiP. One strain that carries the same rsiP frameshift mutation as that found previously in a PEN-R strain showed a PEN-susceptible (PEN-S) phenotype and exhibited decreased bla1 and bla2 transcription. An unexpectedly small colony size, a reduced growth rate, and undetectable ß-lactamase activity levels (culture supernatant and cell lysate) were observed in this PEN-S strain. Sequence analysis revealed mutations in genes associated with growth defects that may contribute to this phenotype. While B. anthracis rsiP mutations cannot be exclusively used to predict resistance, four of the five strains with rsiP mutations were PEN-R. Therefore, the B. anthracis sigP-bla1 region is a useful locus for WGS-based PEN resistance prediction, but phenotypic testing remains essential. IMPORTANCE Determination of antimicrobial susceptibility of B. anthracis is essential for the appropriate distribution of antimicrobial agents for postexposure prophylaxis (PEP) and treatment of anthrax. Analysis of WGS data allows for the rapid detection of mutations in antimicrobial resistance (AMR) genes in an isolate, but the presence of a mutation in an AMR gene does not always accurately predict resistance. As mutations in the anti-sigma factor RsiP have been previously associated with high-level penicillin resistance in a limited number of strains, we investigated WGS assemblies from 374 strains to determine the frequency of mutations and performed functional antimicrobial susceptibility testing. Of the five strains that contained mutations in rsiP, only four were PEN-R by functional antimicrobial susceptibility testing. We conclude that while sequence analysis of this region is useful for AMR prediction in B. anthracis, genetic analysis should not be used exclusively and phenotypic susceptibility testing remains essential.

16.
Eur J Neurol ; 13(12): 1298-301, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17116211

RESUMO

In the last decade, major breakthroughs in the understanding of genetic contributions to Parkinson's disease (PD) have been achieved. Recently, mutations in LRRK2, encoding dardarin, have been found to be responsible for an autosomal dominant parkinsonism (OMIM 607060). We screened 311 subjects (cases: n = 202, controls: n = 109) for the three previously reported LRRK2 mutations. Our investigation revealed a sporadic case of PD with a heterozygous mutation G2019S (c.6055G>A). Here, we present the clinical phenotype of this patient and discuss the implications of genetic testing for the G2019S mutation in patients with sporadic PD.


Assuntos
Mutação , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Substituição de Aminoácidos , Criança , Estudos de Coortes , Feminino , Amplificação de Genes , Genótipo , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade
17.
Plant Physiol ; 107(1): 25-31, 1995 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12228339

RESUMO

Transgenic seeds of rice (Oryza sativa L.) were used to investigate temporal, spatial, and hormonal regulation of a rice [alpha]-amylase gene, RAmy1A. Two overlapping segments of the RAmy1A promoter were fused to the coding region of the bacterial reporter gene, gusA. The resulting promoter-gusA fusions, pE4/GUS (-232 to +31) and pH4/GUS (-748 to +31), were used separately to transform rice protoplasts. [beta]-Glucuronidase (GUS) activity was detected in germinated transgenic seeds, although the two constructs showed no significant difference in timing or location of GUS expression. Both constructs first expressed GUS in the scutellar epithelium and then in the aleurone layer. Aleurone expression of GUS activity was strongly induced when embryoless half-seeds were treated with gibberellic acid. GUS expression in the aleurone layer was also suppressed by abscisic acid. These results indicate that the 5[prime] regulatory region from -232 to +31 is sufficient for temporal, spatial, and hormonal regulation of RAmy1A gene expression.

18.
Minerva Med ; 96(3): 125-44, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16175157

RESUMO

AIM: The aim of this study was to completely review the literature on cognitive and mood changes resulting from deep brain stimulation (DBS), and to examine the factors that might lead to these changes. DBS has been shown to improve motor symptoms in many movement disorders. Despite the widespread use of this technique, there are relatively few well controlled studies describing the potential cognitive, mood and behavioral consequences that may result from DBS. Additionally, the factors that may influence these changes have not been carefully studied. METHODS: A complete survey of the articles exploring the effects of DBS on mood and cognition was performed. Each study identified was examined and categories of factors that may have influenced mood and cognition were noted. These factors included surgical target, number of patients studied, whether procedures were unilateral or bilateral, average age of patients, diagnosis, condition of the DBS during the study (on or off), pre-operative screening tests (e.g., dementia rating scale, mini mental state exam), and changes on mood and cognitive tests (categorized as no change, improved, or worsened). Studies were divided into evidence-based categories. RESULTS: There are many mood and cognitive changes that may result from DBS. Due to methodological limitations of existing studies there are important unanswered questions about cognitive and mood changes resulting from this type of surgery. The predominant amount of data regarding changes in mood and cognition with DBS is level 3 or case based evidence. CONCLUSIONS: There exists a paucity of well-controlled studies addressing the mood and cognitive changes that result from DBS. Carefully performed prospective studies may help us to understand the effects of DBS on mood and cognition.


Assuntos
Afeto , Cognição , Estimulação Encefálica Profunda/psicologia , Afeto/fisiologia , Cognição/fisiologia , Humanos
19.
Gene ; 9(3-4): 175-93, 1980 May.
Artigo em Inglês | MEDLINE | ID: mdl-6248425

RESUMO

The binding of Escherichia coli RNA polymerase to antibiotic-resistance promoters was examined using the nitrocellulose filter assay. Four filter-retainable HaeIII fragments were observed with pBR322 and the promoter-probe plasmids, pBRH1, pBRH2 and pBRH4. Of the three fragments studied, two were shown to carry promoters for the ampicillin (Ap) and tetracycline (Tc) resistance genes, while the third present in pBRH1 appears to be the promoter for colicin E1 immunity (Colimm). Although the formation of filter-retainable complexes involving the Tcr promoter was sensitive to high salt, Apr promoter complexes were not. It was also shown that plasmids containing only the "firm-binding" portion of the Tcr promoter could still bind RNA polymerase in vitro despite the fact that these plasmids confer no in vivo Tcr. Additional filter-binding experiments performed with AluI-digested pBR322 DNA revealed the presence of a fifth RNA polymerase binding site on pBR322. This site is probably the promoter for the 100 bp transcript thought to be involved in the initiation of plasmid replication. An analysis of the recombinant plasmid (pKTR25) which carries the Kan-B portion of the EcoRI kanamycin (Kn) resistance fragment revealed that this fragment contains two RNA polymerase binding sites. We believe that these sites are responsible for the insertional activation of the Tcr gene and may be the promoters for the Knr and fusidic acid (Fa) resistance genes.


Assuntos
RNA Polimerases Dirigidas por DNA/metabolismo , Escherichia coli/genética , Vetores Genéticos , Óperon , Plasmídeos , DNA Bacteriano/metabolismo , Resistência Microbiana a Medicamentos , Canamicina/farmacologia , Fenótipo , Fatores R , Recombinação Genética , Tetraciclina/farmacologia
20.
Gene ; 20(2): 291-304, 1982 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-6299894

RESUMO

Deletions of the promoter region for the tetracycline-resistance (Tcr) gene(s) of pBR322 were constructed in order to generate new promoter-probe plasmid cloning vectors. The deletions were constructed in vitro by exonuclease digestion at the HindIII site and blunt-end ligation of the digestion products. Plasmids which lost the HindIII site but retained the EcoRI site carried deletions ranging from 5 to 60 bp. Some of the plasmids lacked the nucleotide sequences required for initiation of transcription from the Tcr promoter and "anti-Tcr" promoter. Three of the promoter-deletion plasmids (containing deletions of 5-29 bp) formed tight-binding complexes with RNA polymerase in vitro, despite their tetracycline sensitive phenotype. One deletion plasmid, pPV33, retained three out-of-phase stop codons located between the promoter-cloning site (EcoRI) and the translational start codon for the tetracycline resistance gene. These features give pPV33 several advantages over previously described promoter-cloning vehicles.


Assuntos
Escherichia coli/genética , Óperon , Plasmídeos/efeitos dos fármacos , Tetraciclina/farmacologia , Clonagem Molecular , Enzimas de Restrição do DNA , Resistência Microbiana a Medicamentos , Escherichia coli/efeitos dos fármacos , Mutação , Biossíntese de Proteínas
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