Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 226
Filtrar
1.
Chem Commun (Camb) ; 57(61): 7517-7520, 2021 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-34235521

RESUMO

We demonstrate that a recombinase ribozyme achieves multiple functions in the same reaction network: self-reproduction, iterative elongation and circularization of other RNAs, leading to synthesis of diverse products predicted by a kinetic model. This shows that key mechanisms can be integrated and controlled toward Darwinian evolution in RNA reaction networks.


Assuntos
RNA Bacteriano/genética , RNA Catalítico/genética , RNA/genética , Azoarcus/enzimologia , Biocatálise , Fenômenos Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Sequências Repetidas Invertidas , Cinética , RNA/química , RNA Bacteriano/química , RNA Catalítico/química , Recombinases/química , Recombinases/genética
2.
Artif Life ; 26(3): 366-390, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32772858

RESUMO

This article introduces GeMS, a system for music composition informed by synthetic biology. GeMS generates music with simulations of genetic processes, such as transcription, translation, and protein folding, with which biological systems render chains of amino acids from DNA strands. The system comprises the following components: the Miranda machine, the rhythmator, and the pitch processor. The Miranda machine is an abstract Turing-machine-like processor, which manipulates a sequence of DNA symbols according to a set of programming instructions. This process generates a pool of new DNA strands, which are subsequently translated into rhythms. GeMS represents the musical equivalent of amino acids in terms of rhythms, referred to as rhythmic codons. This enables the rhythmator to convert DNA sequences into rhythmic sequences. The pitch processor generates pitches for such rhythmic sequences. It is inspired by the phenomenon of protein folding. The pitch processor considers orientation information of DNA instructions yielded by the Miranda machine in order to activate algorithms for generating pitches. A musical composition, entitled Artibiotics, for percussion ensemble and electronic instruments, is presented to demonstrate the system.


Assuntos
DNA , Fenômenos Genéticos , Música , Biologia Sintética , Simulação por Computador , Biossíntese de Proteínas , Dobramento de Proteína , Transcrição Genética
3.
Ned Tijdschr Geneeskd ; 1642020 06 04.
Artigo em Holandês | MEDLINE | ID: mdl-32613788

RESUMO

The central dogma in molecular biology states that genetic information is transmitted from DNA to RNA to proteins, but not the other way round. Thanks to a recent technological revolution - the 'RNAissance' - it has, however, become clear that RNA is not solely a messenger for passing on the genetic information necessary for protein synthesis, but that RNA also plays an important role in sickness and health. In the past 5 years alone more than 100 therapies with (complementary) RNA molecules have been investigated in Phase 1 trials, and a quarter of these have also been investigated in Phase 2 or 3 trials. The dramatic increase in the number of pharmaceutical companies that are developing RNA therapeutics illustrates the enormous potential of these medicines. Once the toxicity and the costs of RNA therapeutics can be limited, these medicines - personalized or not - could soon be prescribed for patients with a wide range of chronic conditions.


Assuntos
Doença Crônica/terapia , Terapia Genética/métodos , Medicina de Precisão , RNA , Fenômenos Genéticos , Humanos , Biologia Molecular/tendências
4.
Public Health Genomics ; 23(3-4): 149-154, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32516789

RESUMO

Rising prices for new, transformative therapies are challenging health systems around the world, leading many payers and providers to begin rationing access to treatments, even in the countries that have been most resistant to doing so. This is the case for direct-acting antivirals (DAAs) for the treatment of hepatitis C virus (HCV). However, little attention has been paid to the increasing role that human genetics might play in rationing decisions. Researchers have already proposed that genetic markers associated with spontaneous HCV clearance could be used to restrict DAA access for some patients, although treatment would be medically beneficial for those patients. Would such forms of rationing present a form of genetic discrimination? And what of the public health implications of these approaches? Here we present an ethical analysis of such proposals for "precision rationing" and raise 4 key areas of concern. We argue that ethical issues arising in this area are not substantively different from the pressing ethical issues regarding rationing and discrimination more broadly, but provide important impetus for motivating broad public debate to find ethically sound ways of managing genomics and new expensive medications.


Assuntos
Fenômenos Genéticos , Hepatite C , Genética Humana , Seleção de Pacientes , Antivirais/economia , Antivirais/uso terapêutico , Testes Genéticos/métodos , Alocação de Recursos para a Atenção à Saúde/ética , Alocação de Recursos para a Atenção à Saúde/métodos , Acesso aos Serviços de Saúde , Hepatite C/tratamento farmacológico , Hepatite C/economia , Hepatite C/genética , Genética Humana/métodos , Genética Humana/tendências , Humanos
5.
Artigo em Inglês | MEDLINE | ID: mdl-32218770

RESUMO

Background: Height is considered an indicator of health and well-being of an individual and population. Height variation results from a complex interaction of genetic, environmental, socioeconomic, and cultural influences. In order to understand the contribution of environmental stress associated with the child's growth, we correlated indicators of a stressful environment with adult height. Methods: We utilized seven equally weighted indicators of a stressful environment: homicide rates, GDP per capita, income inequality (GINI index), corruption perception index (CPI), unemployment rate, urban air pollution, and life expectancy (LE). Data on male and female height by country from 1992 to 1996 were obtained from the NCD Risk Factor Collaboration dataset. We assessed separately data from the 31 member countries of the Organization for Economic Co-operation and Development (OECD). In order to establish whether the indicators reflected a single conceptual dimension, we conducted an exploratory analysis and principal component analysis (PCA) with orthogonal transformation of the original variables. The relationships between male and female heights and the z-transformed principal components: Quality of life (QoL) and the Social factor (SF) that were derived after the PCA was assessed. Results: Male and female heights strongly correlated (p < 0.0001) with each of the seven indicators. In the PCA, the indicators clustered into "Quality of Life" factors (QoL), which comprised the CPI, GDP, air pollution, LE, and "Social factors" (SF), which comprised homicide rate and GINI index. For males and females, the average height by country strongly correlated with QoL (p < 0.0001) and SF (p < 0.0001). Within OECD countries, male and female height strongly and negatively correlated with the SF, but not with QoL. Conclusion: Growth attenuation is a tradeoff adaptive response: a calorie used for growth cannot be used for fighting stress. Here we show that: (1) Adult height, when used as a measure of child's growth, is an indicator of a stressful environment in context with the genetic background and spatial factors; (2) Stressful QoL factors and the SF exert a greater effect on men's height than women's height; and (3) The ranking of the indicators of short stature are income inequality > air pollution > GDP > CPI > homicide rate > LE > unemployment.


Assuntos
Estatura , Desenvolvimento Infantil/fisiologia , Meio Ambiente , Adulto , Estatura/genética , Estatura/fisiologia , Criança , Países em Desenvolvimento/estatística & dados numéricos , Feminino , Fenômenos Genéticos/fisiologia , Geografia , Homicídio/psicologia , Homicídio/estatística & dados numéricos , Humanos , Renda/estatística & dados numéricos , Expectativa de Vida , Masculino , Qualidade de Vida , Meio Social , Fatores Socioeconômicos , Estresse Psicológico/complicações , Estresse Psicológico/epidemiologia , Populações Vulneráveis
6.
PLoS Comput Biol ; 16(1): e1007643, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32004314

RESUMO

For a genetically identical microbial population, multi-gene expression in various environments requires effective allocation of limited resources and precise control of heterogeneity among individual cells. However, it is unclear how resource allocation and cell-to-cell variation jointly shape the overall performance. Here we demonstrate a Simpson's paradox during overexpression of multiple genes: two competing proteins in single cells correlated positively for every induction condition, but the overall correlation was negative. Yet this phenomenon was not observed between two competing mRNAs in single cells. Our analytical framework shows that the phenomenon arises from competition for translational resource, with the correlation modulated by both mRNA and ribosome variability. Thus, heterogeneity plays a key role in single-cell multi-gene expression and provides the population with an evolutionary advantage, as demonstrated in this study.


Assuntos
Regulação Bacteriana da Expressão Gênica/genética , Expressão Gênica/genética , Genes Bacterianos/genética , Biologia Computacional , Escherichia coli/genética , Escherichia coli/metabolismo , Proteínas de Escherichia coli/genética , Proteínas de Escherichia coli/metabolismo , Fenômenos Genéticos/genética , Modelos Estatísticos , RNA Bacteriano/genética , RNA Bacteriano/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
7.
Neurosci Biobehav Rev ; 109: 78-89, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31899301

RESUMO

Twin studies have shown that a substantial proportion of the variance for sleep variables is due to genetic factors. However, there is still considerable heterogeneity among research reports. Our main objectives were to: 1) Review the twin literature regarding sleep quality and duration, as well as their behavioural correlates; 2) Estimate the mean heritability of subjective sleep quality and sleep duration; 3) Assess heterogeneity among studies on these topics; and 4) Search for moderator variables. Two parallel meta-analyses were carried out for sleep quality and sleep duration. Seventeen articles were included in the meta-analysis. Mean MZ correlations were consistently higher than DZ correlations. A mean heritability of 0.31 (95% CI: 0.20, 0.41) was found for subjective sleep quality (range: 0-0.43) and 0.38 (95% CI: 0.16, 0.56) for sleep duration (range: 0-1). Heterogeneity indexes were significant for both sleep quality (I2 = 98.77, p < .001) and sleep duration (I2 = 99.73, p < .001). The high heterogeneity warrants further research considering possible moderators that may affect heritability.


Assuntos
Fenômenos Genéticos/fisiologia , Sono/fisiologia , Estudos em Gêmeos como Assunto/estatística & dados numéricos , Humanos
8.
J Psychosom Obstet Gynaecol ; 41(1): 62-68, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31023109

RESUMO

Introduction: A lot of attention has been given to the quest of parents, children and donors to find donor siblings (= half siblings who share the same donor gametes but who are born in different families). However, literature is scarce about the use of the same sperm donor for subsequent children in the same family.Methods: This study included 68 lesbian and heterosexual (aspiring) parents, recruited at the Department of Reproductive Medicine of Ghent University Hospital (Belgium). The in-depth semi-structured couple interviews were performed between October 2012 and October 2013. Data were analyzed through step-by-step inductive thematic analysis.Results: The couples showed a clear preference to use the same sperm donor for their children. The most common reasons for this preference were related to the family or sibling relationships and medical reasons. Uncertainty about the availability of the same donor over time seeped through in their stories. Most lesbian aspiring parents decided that both partners should have a genetic link with at least one child.Conclusion: The use of the same sperm donor for subsequent conceptions appeared quasi unambiguously in the interviews of the lesbian and heterosexual (aspiring) parents in our study.


Assuntos
Fenômenos Genéticos , Poder Familiar/psicologia , Pais/psicologia , Técnicas de Reprodução Assistida/psicologia , Relações entre Irmãos , Irmãos , Doadores de Tecidos , Adulto , Feminino , Heterossexualidade , Humanos , Masculino , Relações Pais-Filho , Pesquisa Qualitativa , Minorias Sexuais e de Gênero , Doadores de Tecidos/psicologia , Doadores de Tecidos/estatística & dados numéricos
9.
Econ Hum Biol ; 36: 100826, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31865267

RESUMO

Whether individuals perceive their income as being fair has far-reaching consequences in the labor market and beyond. Yet we know little about the determinants of variation in perceived income justice across individuals. In this paper, we ask to what extent differences in genes are related to variation in individuals' perceived income justice, and whether there is a gene-environment component. Analyzing data from the German TwinLife study, we find that more than 30% of individuals' perceived income justice can be attributed to genes. The rest is mostly related to an idiosyncratic environment.


Assuntos
Interação Gene-Ambiente , Fenômenos Genéticos , Renda/estatística & dados numéricos , Adulto , Estudos Transversais , Feminino , Alemanha , Humanos , Masculino , Fatores Socioeconômicos
10.
Drug Discov Today ; 25(2): 438-445, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31562982

RESUMO

Large-scale biobanks can yield unprecedented insights into our health and provide discoveries of new and potentially targetable biomarkers. Several protective loss-of-function alleles have been identified, including variants that protect against cardiovascular disease, obesity, type 2 diabetes, and asthma and allergic diseases. These alleles serve as indicators of efficacy, mimicking the effects of drugs and suggesting that inhibiting these genes could provide therapeutic benefit, as has been observed for PCSK9. We provide a context for these findings through a multifaceted review covering the use of genetics in drug discovery efforts through genome-wide and phenome-wide association studies, linking deep mutation scanning data to molecular function and highlighting some additional tools that might help in the interpretation of newly discovered variants.


Assuntos
Bancos de Espécimes Biológicos , Descoberta de Drogas , Fenômenos Genéticos , Animais , Desenvolvimento de Medicamentos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação
11.
Cell ; 179(5): 1129-1143.e23, 2019 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-31730854

RESUMO

Energy homeostasis requires precise measurement of the quantity and quality of ingested food. The vagus nerve innervates the gut and can detect diverse interoceptive cues, but the identity of the key sensory neurons and corresponding signals that regulate food intake remains unknown. Here, we use an approach for target-specific, single-cell RNA sequencing to generate a map of the vagal cell types that innervate the gastrointestinal tract. We show that unique molecular markers identify vagal neurons with distinct innervation patterns, sensory endings, and function. Surprisingly, we find that food intake is most sensitive to stimulation of mechanoreceptors in the intestine, whereas nutrient-activated mucosal afferents have no effect. Peripheral manipulations combined with central recordings reveal that intestinal mechanoreceptors, but not other cell types, potently and durably inhibit hunger-promoting AgRP neurons in the hypothalamus. These findings identify a key role for intestinal mechanoreceptors in the regulation of feeding.


Assuntos
Comportamento Alimentar/fisiologia , Fenômenos Genéticos , Células Receptoras Sensoriais/fisiologia , Nervo Vago/fisiologia , Proteína Relacionada com Agouti/metabolismo , Animais , Encéfalo/fisiologia , Trato Gastrointestinal/inervação , Marcadores Genéticos , Mecanorreceptores/metabolismo , Camundongos , Nervo Vago/anatomia & histologia , Vísceras/inervação
12.
Mol Ecol ; 28(20): 4529-4532, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31602718

RESUMO

To understand the underlying mechanisms generating population genetic divergence and structure is a critical step towards understanding how biodiversity evolves at both micro- and macroevolutionary scales. At the population-level, geographic isolation as well as adaptation to local environmental conditions can generate different patterns of spatial genetic variation among populations. Specific organismal traits as well as the characteristics of the environment might influence the process under which populations become spatially structured. In a From the Cover article in this issue of Molecular Ecology, Myers et al. (2019) present an integrative approach to investigate if the Cochise filter barrier (CFB), lying between the Sonoran and Chihuahuan Deserts, and the surrounding river networks were relevant in driving the population structure of 13 snake species. While local environmental conditions seem to predominantly contribute to lineage divergence, traditionally studied vicariant barriers seem to have played a minor role in shaping population structure across the studied species. This study brings insights into how population-level processes could contribute to the formation of incipient species, which ultimately might affect the speciation rates measured at macroevolutionary scales. Hence, Myers et al. (2019) not only represents an integrative study aiming to understand the drivers of population genetic divergence, but also a potentially important contribution to our ongoing challenge in linking micro- and macroevolution.


Assuntos
Evolução Molecular , Fenômenos Genéticos/fisiologia , Especiação Genética , Animais , Evolução Biológica , Genética Populacional , Genoma/genética , Filogenia , Filogeografia , Serpentes
13.
Rev. Cient. CRO-RJ (Online) ; 4(2): 02-11, May-Aug. 2019.
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1024783

RESUMO

Objective: Through a systematic review and meta-analysis, the aim this study was evaluating the association between the P561T polymorphism in GHR (rs6184) with skeletal Class III malocclusion in different populations. Methods: A broad search for studies was conducted using the databases: PubMed, Web of Science, Scopus, Cochrane, Google Scholar and Open Grey until December 2018. The study design according to PECOS was: P-Orthodontic patients; E- polymorphism P561T in GHR; C- absence of polymorphism P561T in GHR; O- linear dimension alterations in maxilla and mandibular measurements; S- Cross-sectional studies. The selected studies were qualified by 10-point scoring sheet methodological quality. The subgroups evaluation was performd according to the linear measurements evaluated in two or more studies, as follows: body height, N-S, A'-PTM', Gn-Go, Pog'-Go, and Co-Go.A fixed effect model was used and the mean differences were performed using the inverse-variance meta-analysis. The I2 (95%) was used to measure statistical heterogeneity between studies, where I2 values of 25%, 50%, and 75% signified low, medium, and high heterogeneity, respectively. Results: The initial search identified 146 studies. After excluding duplicate abstracts, 138 were selected. Seven studies were included in the systematic review. Only one study was classified as having low methodological quality. Three studies were included in the meta-analysis. The meta-analysis demonstrated an association between the Co-Go linear measure and CC genotype (p<0.0001), with a mean difference and confidence interval of 3.79 [2.06, 5.52]. CC was associated with greater mandibular height. Conclusion: The polymorphism P561T in GHR is associated with Co-Go measurement in Asians, with low level of evidence.


Objetivo: Por meio de uma revisão sistemática e meta-análise, o objetivo deste estudo foi avaliar a associação entre o polimorfismo P561T em GHR (rs6184) com a maloclusão de Classe III esquelética em diferentes populações. Métodos: Uma ampla pesquisa de estudos foi realizada utilizando os bancos de dados PubMed, Web of Science, Scopus, Cochrane, Google Scholar e Open Grey até dezembro de 2018. O desenho do estudo de acordo com o PECOS foi: P-Pacientes ortodônticos; Polimorfismo P561T em GHR; Causência de polimorfismo P561T em GHR ; O-alterações na dimensão linear das medidas maxilares e mandibulares; S- Estudos transversais. Os estudos selecionados foram qualificados pela qualidade metodológica em uma escala de 10 pontos. A avaliação emsubgrupos. O subgrupo foi realizada de acordo com as medidas lineares avaliadas em dois ou mais estudos, como a seguir: altura corporal, N-S, A'-PTM ', Gn-Go, Pog'-Go. Foi utilizado o modelo de efeito fixo e as diferenças médias foram realizada usando a metanálise de variância inversa. O I2 (95%) foi utilizado para medir heterogeneidade estatística entre estudos, em que valores de I2 de 25%, 50% e 75% significaram baixa, média e alta heterogeneidade, respectivamente. Resultados: A pesquisa inicial identificou 146 estudos. Após excluir resumos duplicados, 138 foram selecionados. Sete estudos foram incluídos na revisão sistemática. Apenas 1 estudo foi classificado como de baixa qualidade metodológica. Três estudos foram incluídos na meta-análise. A metaanálise demonstrou uma associação entre a medida linear Co-Go e o genótipo CC (p<0,0001), com diferença média e intervalo de confiança de 3,79 [2,06; 5,52]. CC foi associado com maior altura mandibular. Conclusão: O polimorfismo P561T em GHR está associado à medida Co-Go em asiáticos, com baixo nível de evidência.


Assuntos
Fenômenos Genéticos , Polimorfismo Genético , Prognatismo , Má Oclusão Classe III de Angle , Mandíbula
14.
Mol Ecol ; 28(17): 3848-3856, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31392753

RESUMO

Conservation genetics is a well-established scientific field. However, limited information transfer between science and practice continues to hamper successful implementation of scientific knowledge in conservation practice and management. To mitigate this challenge, we have established a conservation genetics community, which entails an international exchange-and-skills platform related to genetic methods and approaches in conservation management. First, it allows for scientific exchange between researchers during annual conferences. Second, personal contact between conservation professionals and scientists is fostered by organising workshops and by popularising knowledge on conservation genetics methods and approaches in professional journals in national languages. Third, basic information on conservation genetics has been made accessible by publishing an easy-to-read handbook on conservation genetics for practitioners. Fourth, joint projects enabled practitioners and scientists to work closely together from the start of a project in order to establish a tight link between applied questions and scientific background. Fifth, standardised workflows simplifying the implementation of genetic tools in conservation management have been developed. By establishing common language and trust between scientists and practitioners, all these measures help conservation genetics to play a more prominent role in future conservation planning and management.


Assuntos
Conservação dos Recursos Naturais , Fenômenos Genéticos , Animais , Ecossistema , Ciência
15.
Mol Ecol ; 28(20): 4535-4548, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31332852

RESUMO

Genetic structure can be influenced by local adaptation to environmental heterogeneity and biogeographic barriers, resulting in discrete population clusters. Geographic distance among populations, however, can result in continuous clines of genetic divergence that appear as structured populations. Here, we evaluate the relevant importance of these three factors over a landscape characterized by environmental heterogeneity and the presence of a hypothesized biogeographic barrier in producing population genetic structure within 13 codistributed snake species using a genomic data set. We demonstrate that geographic distance and environmental heterogeneity across western North America contribute to population genomic divergence. Surprisingly, landscape features long thought to contribute to biogeographic barriers play little role in divergence community wide. Our results suggest that isolation by environment is the most important contributor to genomic divergence. Furthermore, we show that models of population clustering that incorporate spatial information consistently outperform nonspatial models, demonstrating the importance of considering geographic distances in population clustering. We argue that environmental and geographic distances as drivers of community-wide divergence should be explored before assuming the role of biogeographic barriers.


Assuntos
Evolução Molecular , Fenômenos Genéticos/fisiologia , Especiação Genética , Isolamento Reprodutivo , Serpentes/classificação , Animais , Evolução Biológica , Genoma/genética , Geografia , Filogenia , Filogeografia , Dinâmica Populacional , Serpentes/genética
16.
J Comp Psychol ; 133(4): 512-519, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31246047

RESUMO

It has been hypothesized that the evolution of tool use may have served as a preadaptation for the emergence of left hemispheric specialization in motor skill in humans. Here, we tested for intermanual differences in performance on a tool use task in a sample of 206 captive chimpanzees in relation to their sex, age, and hand preference. In addition, we examined heritability in tool use skill for the entire sample, as well as within 2 genetically isolated populations of captive chimpanzees. This was done to determine the degree of reproducibility in heritability on motor performance. The results revealed a significant effect of hand preference on intermanual differences in performance. Right-handed chimpanzees performed the task more quickly with their right compared with left hand. In contrast, no significant intermanual differences in performance were found in left- and ambiguous-handed apes. Tool use performance was found to be significantly heritable for overall performance, as well as separately for the left and right hands. Further, significant heritability in tool use performance was found in both populations of apes, suggesting these results were reproducible. The results are discussed in the context of evolutionary theories of handedness and hemispheric specialization and the genetic mechanisms that underlie their expression in primates, including humans. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Comportamento Animal/fisiologia , Lateralidade Funcional/fisiologia , Fenômenos Genéticos/genética , Mãos/fisiologia , Destreza Motora/fisiologia , Pan troglodytes/fisiologia , Animais , Feminino , Masculino
18.
Eur J Hum Genet ; 27(5): 671-680, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30664715

RESUMO

We review genetic diseases with identified molecular bases that include abnormal, reduced (hypoplasia), or absent (aplasia) patellae as a significant aspect of the phenotype. The known causal genes can be broadly organized according to three major developmental and cellular processes, although some genes may act in more than one of these: limb specification and pattern formation; DNA replication and chromatin structure; bone development and differentiation. There are also several genes whose phenotypes in mice indicate relevance to patellar development, for which human equivalent syndromes have not been reported. Developmental studies in mouse and chick embryos, as well as patellar involvement in human diseases with decreased mobility, document the additional importance of local environmental factors in patellar ontogenesis. Patellar anomalies found in humans can be an important clue to a clinical genetic diagnosis, and a better knowledge of the genetics of patellar anomalies will improve our understanding of limb development.


Assuntos
Fenômenos Genéticos , Patela/metabolismo , Evolução Biológica , Doenças Ósseas/genética , Cromatina/genética , Replicação do DNA/genética , Humanos , Patela/anormalidades , Patela/embriologia
19.
Front Neuroendocrinol ; 52: 195-205, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30576700

RESUMO

Parental care is found widely across animal taxa and is manifest in a range of behaviours from basic provisioning in cockroaches to highly complex behaviours seen in mammals. The evolution of parental care is viewed as the outcome of an evolutionary cost/benefit trade-off between investing in current and future offspring, leading to the selection of traits in offspring that influence parental behaviour. Thus, level and quality of parental care are affected by both parental and offspring genetic differences that directly and indirectly influence parental care behaviour. While significant research effort has gone into understanding how parental genomes affect parental, and mostly maternal, behaviour, few studies have investigated how offspring genomes affect parental care. In this review, we bring together recent findings across different fields focussing on the mechanism and genetics of offspring effects on maternal care in mammals.


Assuntos
Comportamento Animal/fisiologia , Fenômenos Genéticos/fisiologia , Comportamento Materno/fisiologia , Relações Mãe-Filho , Comportamento Social , Animais , Humanos
20.
São Paulo; s.n; 2019. 216 p.
Tese em Português | LILACS | ID: biblio-1005420

RESUMO

A UGRHI-17 da bacia hidrográfica do Médio Paranapanema (São Paulo, Brasil) é reconhecidamente uma área de alta biodiversidade de espécies de Biomphalaria e possui grande vulnerabilidade a acometimentos ambientais e em saúde, no caso da esquistossomose. O objetivo do estudo foi identificar áreas de maior risco para a ocorrência da esquistossomose utilizando dados de transmissão da esquistossomose e de diversidade genética molecular, associando-os às ferramentas geoespaciais, e com isso estabelecer áreas potenciais para a vigilância malacológica e da infecção em coleções de água doce na região do Médio Paranapanema. Os moluscos do gênero de Biomphalaria foram identificados por meio de características morfológicas e moleculares; enquanto os outros grupos taxonômicos (Drepanotrema, Lymnaea, Melanoides, Physa e Pomacea) foram identificados por características conchiológicas ou morfológicas. A análise filogenética das espécies de Biomphalaria foi realizada por meio da análise de sequências dos genes mitocondriais COI, 16S rRNA e COI+16S. As sequências do gene COI referentes ao trecho DNA Barcode foram testadas quanto à similaridade com sequências depositadas no GenBank e analisadas em ABDG, bPTP e GMYC para delimitação de espécies putativas. Na análise espacial foram utilizadas as estatísticas de varredura, Gi e de fluxo. Foram utilizadas as fichas notificação e investigação dos casos de esquistossomose na região de estudo entre 1978-2016. Foi calculado as taxas de incidência e foi avaliado a dependência espacial entre os casos autóctones e importados com a função K12 de Ripley. Foram gerados mapas da distribuição espacial dos caramujos do gênero Biomphalaria; dos casos de esquistossomose ocorridos na região de estudo; e da diversidade genética em haplótipos do gene 16S. Além disso, foi realizada modelagem de nicho para estimar cenários futuros de alteração na distribuição dos caramujos, utilizado o algoritmo de máxima entropia. Foram utilizados os dados de variáveis climáticas e topográficas obtidas no WorldClim, HydroSHEDS e TOPODATA e o modelo climático regional HadGEM2-ES do período de 2041-2060, considerando dois cenários de mudança climática possíveis: RCP2.6 e RCP8.5. Foram identificados aglomerados de alto risco para ocorrência de esquistossomose em Ourinhos, Assis e Ipaussu. Entretanto, ao longo dos anos, os casos passaram a ocorrer em baixa densidade em Ourinhos e deixaram de ocorrer nos demais municípios da região. Dos caramujos coletados, 75.5% eram Biomphalaria, 11.2% Drepanotrema e 13.3% de outros gêneros não planorbídeos. O modelo de máxima entropia mostrou que há probabilidade futura da espécie B. glabrata permanecer nos municípios de Ourinhos e Assis, e uma probabilidade em torno de 50% de a espécie expandir sua colonização a corpos de água doce de outros municípios da região de estudo, isto em função das mudanças climáticas. Os resultados para B. straminea mostram que esta espécie tem maior probabilidade de expansão de colonização no futuro, especialmente nos municípios próximos a Ourinhos. A análise filogenética mostrou árvores com cinco ramos monofiléticos com alto suporte estatístico. A diversidade de haplótipos está distribuída de forma diferente em cada um dos cinco taxa analisados. Conclui-se, em um dos resultados deste trabalho, que atualmente a esquistossomose, como problema de saúde pública no Médio Paranapanema, está restrita a Ourinhos. Tal fato pode estar relacionado à presença de B. glabrata em pontos específicos e à cobertura deficiente do saneamento básico. Desta forma, o estudo contribuiu para eleger áreas prioritárias para o combate aos caramujos e à doença para evitar ou reduzir transmissões futuras nesta região


The UGRHI-17 of the Middle Paranapanema watershed (São Paulo, Brazil) is recognized as an area of high biodiversity of Biomphalaria species and great vulnerability to environmental and health impacts for schistosomiasis. The objective of the study is to identify areas of greatest risk for the occurrence of schistosomiasis using transmission data from schistosomiasis and molecular genetic diversity, associating them with the geospatial tools, and thereby establishing potential areas for malacological surveillance and infection in collections of freshwaters in the region of Middle Paranapanema. Molluscs of the genus Biomphalaria were identified by morphological and molecular characteristics; while the other taxonomical groups (Drepanotrema, Lymnaea, Melanoides, Physa and Pomacea) were identified through conchiological or morphological characteristics. Molecular genetic analysis of the species was done through sequence analysis of the mitochondrial genes COI, rRNA16S and COI+16S. The COI gene sequences related to DNA Barcode portions were tested for similarity to sequences deposited in GenBank and analyzed ABDG, BPTP and GMYC for delimiting putative species. In the spatial analysis we used the scan statistics, Gi and flow maps. Reporting and investigation records of cases schistosomiasis in the study regions between 1978 and 2016 were used. Incidence were calculated and the existence of spatial dependence between autochthonous and imported cases was evaluated using Ripley's K12-function. Maps of the spatial distribution of snails of the genus Biomphalaria; cases of schistosomiasis occurred in the study region; and the genetic diversity in haplotypes of the 16S gene were generated. In addition, the ecological niche modeling to estimate future scenarios of alteration in the distribution of snails, used the maximum entropy algorithm in MaxEnt software. Climate and altitude data obtained from WorldClim, HydroSHEDS and TOPODATA and the regional climate model HadGEM2-ES from the period of 2041-2060 were used, considering two possible scenarios of climate change: Representative Concentration Pathways - RCP2.6 and RCP8.5. High-risk clusters were identified for the occurrence of schistosomiasis in Ourinhos, Assis and Ipaussu. However, over the years, cases occurred in low density in Ourinhos and ceased to occur in other municipalities in the region. Of the snails collected, 75.5% were Biomphalaria, 11.2% Drepanotrema and 13.3% of other non-planorbid genera. The maximum entropy model showed that B. glabrata is a future likely to remain in the municipality of Ourinhos and Assis and a probability around 50% of species to expand their colonization to freshwater bodies of other municipality of the study region, due to the climatic changes. The results for B. straminea showed that this is the species most likely to expand colonization in the future, especially in the municipalities near Ourinhos. The phylogenetic analysis showed trees with five monophyletic branches with high statistical support. The diversity of haplotypes is distributed differently at each of the five taxa analyzed. As one of the results of this work it was concluded that, currently, schistosomiasis as a public health problem in the Middle Paranapanema is restricted to Ourinhos. This may be related to the presence of B. glabrata at specific point and poor coverage of basic sanitation. In this way, the study contributed to the selection of priority areas for combating snails and disease in order to avoid or reduce future transmissions in this region


Assuntos
Filogenia , Esquistossomose/epidemiologia , Mudança Climática , Biomphalaria , Demografia , Fenômenos Genéticos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...