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Anglické sponové predikace se slovesy smyslového vnímání a jejich české protějšky / English copular predications with verbs of sensory perception and their Czech counterpartsMikulová, Laura January 2011 (has links)
This MA thesis aims at describing the Czech counterparts to the English copular verbs of sensory perception, presupposing lexical differences due to the unequeal size of the repertoire available to each of the languages. After discussing the approaches of the major grammars of English to copular verbs, the MA thesis analyses the translation equivalents excerpted from the English-Czech section of the multilingual corpus InterCorp. The final set of translation pairs comprises 217 examples, with 50 examples of copular clauses with look, feel, smell, sound and 17 sentences with the predicate taste. The analysis, divided into sections investigating each copula individually, shows that the prevailing means of translating an English copular predication of perception are lexical verbs (in 78% of occurrences), most frequently followed by an adverbial (in 72% of occurrences). In particular, the most usual translation was an intransitive verb followed by an adverb. Verbs with a complementation comprise a low number of occurrences. Similarly, fusion appeared very rarely (usually with the copula feel). Czech copular verbs as counterparts of the English copulas of perception occurred only in the imperfective aspect (být) comprising 9% of all counterparts. Comparing the languages revealed that Czech copulas are...
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Přehled ergoterapeutických testů s možností využití v testování dyspraxií / Summary of occupational therapy tests with possible use in testing dyspraxiaHolubová, Kateřina January 2016 (has links)
The aim of the thesis was to find occupational therapy tests, or part thereof which could be used to test various inputs perception function of CNS. In cooperation with child and adult occupational therapists from Motol Hospital were researched occupational therapy various standardized tests designed to test children and adults. Then of them selected those tests (or a portion thereof) that contain the testing of individual sensory modalities of adult patients. Ultimately, these tests were applied to a group of adult population and evaluated. The whole work was compiled in the form of research. It was assumed that in the sets occupational therapy standardized tests, there are tests or parts that are able to focus their testing different modalities of perception function of the CNS within the cortical functions.
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Rozvoj symslového vnímání u dětí s kombinovaným postižením / Development of sensory perception of children with multiple disabilitiesJiroušková, Petra January 2013 (has links)
The diploma thesis is addressed to a developing of sensory perception of children educated as pupils with severe mental retardation and pupils with multiple disabilities. The thesis suggests their educational opportunities in the topic of "Man and their society". The thesis follows up all the senses and their developing, as well as it provides methodical support and suggests the ways of rendition and implementation into the educational reality. The research evaluates the improvement of sensory perception of four pupils during a two-year-long period. It proves a point that the systematical and long-term working with the pupils with severe mental retardation and pupils with multiple disabilities results in progress.
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A relação treinador-atleta-percepção dos comportamentos de liderança e de coesão em equipas de futebolLeitão, José Carlos Gomes de Carvalho January 1999 (has links)
No description available.
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Potenciais auditivos de longa latência: N1, P2, N2, P300, evocados por estímulo de fala em usuários de implante coclear / Long latency auditory potentials: N1, P2, N2 and P300, evoked through speech stimulus, in cochlear implant usersBanhara, Marcos Roberto 13 March 2007 (has links)
Introdução: O implante coclear proporciona aos indivíduos com perda auditiva severa e severa a profunda, que não se beneficiam do uso de aparelho de amplificação sonora individual, maior habilidade quanto à comunicação. Os potenciais evocados auditivos de longa latência (N1, P2, N2 e P300) podem ser um indicador diferencial na avaliação dos usuários de implante coclear. Esses potenciais fornecem parâmetros objetivos de geradores neurais, relacionados às habilidades de atenção, discriminação e memorização de estímulos tonais ou de fala. No estudo, os potenciais N1, P2, N2 e P300, gerados por estímulos de fala em usuários de implante coclear, foram caracterizados e posteriormente correlacionados às variáveis: percepção de fala, tempo de surdez e tempo de uso do implante. Metodologia: A pesquisa foi desenvolvida na Clínica de Fonoaudiologia da Faculdade de Odontologia de Bauru e no Centro de Pesquisas Audiológicas do Hospital de reabilitação de Anomalias, ambos unidades da Universidade de São Paulo. Os potenciais foram captados por eletrodos posicionados nas regiões Cz/Fz/M1/M2 da calvária e conectados ao Biologic\'s Evoked Potential System (EP) por cabos, seguindo os padrões do sistema internacional 10-20. Participaram da pesquisa 25 usuários de implante coclear, portadores de surdez pré-lingual, na faixa etária de 6,6 a 12,3 anos. Para realização do procedimento os indivíduos foram orientados a levantar a mão assim que ouvissem o estímulo raro (/a/ e /da/), apresentado na proporção de 20/80 em relação ao estímulo freqüente (/i/ e /ba/). Os estímulos de fala /ba-da/ e /i-a/ foram apresentados em oddball paradigma, a uma intensidade de 60 dB NPS por uma caixa acústica. Resultados: Foram observadas correlações estatisticamente significantes entre a latência do potencial N1 e o tempo de surdez e de uso do implante; entre amplitude do potencial P2 e o tempo de surdez e tempo de uso do implante; entre a latência do potencial P300 e o reconhecimento de palavras. A latência média do N1 aumentou 6 ms por ano em relação ao tempo de surdez, mantido o tempo de uso do implante constante e diminuiu 3 ms de acordo com o aumento de 1 ano no tempo de uso. A amplitude média do P2 diminuiu 1 ?V, com o aumento do tempo de surdez em 1 ano, mantendo-se o tempo de uso fixo e aumentou, 0,5 ?V com o prolongamento de 1 ano no tempo de uso do IC, mantido o tempo de surdez constante. A latência média do potencial P300 aumentou 2 ms, de acordo com a piora do escore de reconhecimento de palavras,e diminuiu 2 ms proporcionalmente à melhora do mesmo escore. Conclusões: As variáveis: tempo de surdez e de uso do implante, influenciaram os valores de latência e amplitude dos potenciais N1 e P2 , sugerindo plasticidade cortical. A latência do potencial P300 refletiu os processos cognitivos relacionados às habilidades de atenção e discriminação auditiva e apresentou relação de significância com os escores de percepção de fala nos usuários de implante coclear / Introduction: Cochlear implants supply subjects presented with severe and profound hearing loss, who do not benefit from the hearing aid, with a greater communication ability. The long latency auditory evoked potentials (N1, P2, N2 and P300) are a differential indicator in the assessment of cochlear implant users. These potentials provide objective parameters of neural generators related to the skills of attention, discrimination and memorization of tonal or speech stimuli. In this study, potentials N1, P2, N2 and P300, generated through speech stimuli in cochlear implant users, were characterized and correlated with the variables speech perception, time of deafness and time of cochlear implant use. Methodology: the research was carried out at the Speech Pathology clinic of the Dental School and at the Audiological Research Center with the Craniofacial Anomalies Rehabilitation Hospital, both with University of São Paulo at Bauru, SP. The potentials were recorded by electrodes placed in regions Cz/Fz/M1/M2 of the skull and connected to the Biologic\'s Evoked Potential System (EP) through cables, according to the standards of international system 10-20. Twenty-five cochlear implant users, presented with pre-lingual deafness, in the age range 6.6 - 12.3 yrs, participated in the study. The subjects were requested to raise their hand as soon as they heard the rare stimulus (/a/ and /da/), presented in the proportion 20/80 in relation to the frequent stimulus (/i/ and /ba/). The speech stimuli /ba-da/ and /i-a/ were presented in oddball paradigm, at an intensity of 60 dB NPS, through a speaker. Results: statistically significant correlations were observed between the latency of potential N1 and the time of deafness and time of cochlear implant use; between amplitude of potential P2 and the time of deafness and time of cochlear implant; between the latency of potential P300 and word recognition. The mean latency of N1 increased 6 ms per year in relation to the time of deafness, with the time of implant use constant and diminished 3 ms according to the increase of 1 year in the time of use. The mean amplitude of P2 diminished 1 ?V, as the time of deafness increased in a year, by keeping fixed the time of use, and increased 0.5 ?V, with the increase of a year in the time of CI use, by keeping constant the time of deafness. The mean latency of potential P300 increased 2 ms as the word recognition score worsened and diminished 2 ms proportionally to the improvement of the same score. Conclusions: The variables time of deafness and cochlear implant use influenced the latency and amplitude of potentials N1 and P2, suggesting a cortical plasticity. The latency of potential P300 reflected the cognitive processes related to skills of auditory attention and discrimination, and presented a significance relation with the word perception score, in the subjects evaluated
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Práce s texturou v experimentálních výtvarných činnostech na 1. stupni ZŠ / Working with Texture in Experimental Art Activities at Primary SchoolMÍKOVÁ, Tereza January 2019 (has links)
This theoretical project-based thesis focuses on surface quality of art objects in the field of artwork. The theoretical section provides general insight into the problematics and it also offers concrete examples of artistic and architectural creations where texture serves an important role. It further introduces and elaborates a few instances of art lessons from special didactics focusing on texture utilization in its artistic activities. The project section of the thesis contains seven logically systematized art lessons which utilize various forms of experimental activities dealing with the subject of texture suitable for the primary school children.
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Potenciais auditivos de longa latência: N1, P2, N2, P300, evocados por estímulo de fala em usuários de implante coclear / Long latency auditory potentials: N1, P2, N2 and P300, evoked through speech stimulus, in cochlear implant usersMarcos Roberto Banhara 13 March 2007 (has links)
Introdução: O implante coclear proporciona aos indivíduos com perda auditiva severa e severa a profunda, que não se beneficiam do uso de aparelho de amplificação sonora individual, maior habilidade quanto à comunicação. Os potenciais evocados auditivos de longa latência (N1, P2, N2 e P300) podem ser um indicador diferencial na avaliação dos usuários de implante coclear. Esses potenciais fornecem parâmetros objetivos de geradores neurais, relacionados às habilidades de atenção, discriminação e memorização de estímulos tonais ou de fala. No estudo, os potenciais N1, P2, N2 e P300, gerados por estímulos de fala em usuários de implante coclear, foram caracterizados e posteriormente correlacionados às variáveis: percepção de fala, tempo de surdez e tempo de uso do implante. Metodologia: A pesquisa foi desenvolvida na Clínica de Fonoaudiologia da Faculdade de Odontologia de Bauru e no Centro de Pesquisas Audiológicas do Hospital de reabilitação de Anomalias, ambos unidades da Universidade de São Paulo. Os potenciais foram captados por eletrodos posicionados nas regiões Cz/Fz/M1/M2 da calvária e conectados ao Biologic\'s Evoked Potential System (EP) por cabos, seguindo os padrões do sistema internacional 10-20. Participaram da pesquisa 25 usuários de implante coclear, portadores de surdez pré-lingual, na faixa etária de 6,6 a 12,3 anos. Para realização do procedimento os indivíduos foram orientados a levantar a mão assim que ouvissem o estímulo raro (/a/ e /da/), apresentado na proporção de 20/80 em relação ao estímulo freqüente (/i/ e /ba/). Os estímulos de fala /ba-da/ e /i-a/ foram apresentados em oddball paradigma, a uma intensidade de 60 dB NPS por uma caixa acústica. Resultados: Foram observadas correlações estatisticamente significantes entre a latência do potencial N1 e o tempo de surdez e de uso do implante; entre amplitude do potencial P2 e o tempo de surdez e tempo de uso do implante; entre a latência do potencial P300 e o reconhecimento de palavras. A latência média do N1 aumentou 6 ms por ano em relação ao tempo de surdez, mantido o tempo de uso do implante constante e diminuiu 3 ms de acordo com o aumento de 1 ano no tempo de uso. A amplitude média do P2 diminuiu 1 ?V, com o aumento do tempo de surdez em 1 ano, mantendo-se o tempo de uso fixo e aumentou, 0,5 ?V com o prolongamento de 1 ano no tempo de uso do IC, mantido o tempo de surdez constante. A latência média do potencial P300 aumentou 2 ms, de acordo com a piora do escore de reconhecimento de palavras,e diminuiu 2 ms proporcionalmente à melhora do mesmo escore. Conclusões: As variáveis: tempo de surdez e de uso do implante, influenciaram os valores de latência e amplitude dos potenciais N1 e P2 , sugerindo plasticidade cortical. A latência do potencial P300 refletiu os processos cognitivos relacionados às habilidades de atenção e discriminação auditiva e apresentou relação de significância com os escores de percepção de fala nos usuários de implante coclear / Introduction: Cochlear implants supply subjects presented with severe and profound hearing loss, who do not benefit from the hearing aid, with a greater communication ability. The long latency auditory evoked potentials (N1, P2, N2 and P300) are a differential indicator in the assessment of cochlear implant users. These potentials provide objective parameters of neural generators related to the skills of attention, discrimination and memorization of tonal or speech stimuli. In this study, potentials N1, P2, N2 and P300, generated through speech stimuli in cochlear implant users, were characterized and correlated with the variables speech perception, time of deafness and time of cochlear implant use. Methodology: the research was carried out at the Speech Pathology clinic of the Dental School and at the Audiological Research Center with the Craniofacial Anomalies Rehabilitation Hospital, both with University of São Paulo at Bauru, SP. The potentials were recorded by electrodes placed in regions Cz/Fz/M1/M2 of the skull and connected to the Biologic\'s Evoked Potential System (EP) through cables, according to the standards of international system 10-20. Twenty-five cochlear implant users, presented with pre-lingual deafness, in the age range 6.6 - 12.3 yrs, participated in the study. The subjects were requested to raise their hand as soon as they heard the rare stimulus (/a/ and /da/), presented in the proportion 20/80 in relation to the frequent stimulus (/i/ and /ba/). The speech stimuli /ba-da/ and /i-a/ were presented in oddball paradigm, at an intensity of 60 dB NPS, through a speaker. Results: statistically significant correlations were observed between the latency of potential N1 and the time of deafness and time of cochlear implant use; between amplitude of potential P2 and the time of deafness and time of cochlear implant; between the latency of potential P300 and word recognition. The mean latency of N1 increased 6 ms per year in relation to the time of deafness, with the time of implant use constant and diminished 3 ms according to the increase of 1 year in the time of use. The mean amplitude of P2 diminished 1 ?V, as the time of deafness increased in a year, by keeping fixed the time of use, and increased 0.5 ?V, with the increase of a year in the time of CI use, by keeping constant the time of deafness. The mean latency of potential P300 increased 2 ms as the word recognition score worsened and diminished 2 ms proportionally to the improvement of the same score. Conclusions: The variables time of deafness and cochlear implant use influenced the latency and amplitude of potentials N1 and P2, suggesting a cortical plasticity. The latency of potential P300 reflected the cognitive processes related to skills of auditory attention and discrimination, and presented a significance relation with the word perception score, in the subjects evaluated
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La perception sensorielle des bébés nés à terme et prématurés / The sensory perception of term-aged preterm and full-term infantsAndré, Vanessa 18 December 2017 (has links)
La perception sensorielle est propre à chaque individu. Elle découle du patrimoine génétique (qui définit les récepteurs sensoriels), mais varie en fonction de la maturation et de l’expérience d’un individu. En ce sens, l’étude du bébé nous a permis de tester à la fois 1) l’effet de la maturation, en comparant la perception des bébés avec celle des adultes et 2) l’effet de l’expérience sensorielle précoce, en comparant la perception sensorielle de bébés nés à terme ou prématurés pour un même âge donné. Nos résultats ont souligné une perception sensorielle plus étendue chez le bébé que chez l’adulte, via la perception de stimulations tactiles très fines ou encore la perception d’ultrasons, qui ne sont plus perçus à l’âge adulte. Les mécanismes de maturation des organes sensoriels et de « recentrage sensoriel » envers les stimulations pertinentes, pouvant intervenir au cours du temps, ont été présentés. Nous avons également montré une réactivité particulièrement marquée des bébés prématurés, en comparaison avec les bébés nés à terme. Différents mécanismes sous-jacents potentiels tels qu’une adaptation de la sélectivité neuronale aux stimulations environnementales, une plasticité cérébrale conservée/retardée, ou encore le développement d’une hypersensibilité ont été discutés. En sus du cœur de cette thèse, nous nous sommes intéressés à l’ « Umwelt » social du bébé, en étudiant 1) ses capacités de perception et de discrimination des odeurs corporelles humaines et 2) sa capacité à s’exprimer sur sa perception sensorielle. Nous avons montré que le bébé est un être très réceptif à son monde social, capable de discriminer entre les odeurs de ses partenaires sociaux. De plus, le bébé est également très expressif sur sa perception sensorielle, notamment via l’utilisation d’un répertoire vocal complexe (au-delà des pleurs), dont certains types de vocalisations pourraient refléter son état de confort ou d’inconfort. Les résultats de cette thèse ouvrent de nombreuses pistes de réflexion en termes d’adaptations des pratiques néonatales. / Sensory perception is specific to each individual. It results from the gene pool (which defines the sensory receptors), but varies depending on maturation and experience. In this sense, the study of babies has enabled us to test both 1) the effect of maturation by comparing the babies’ sensory perception to those of adults and 2) the effect of early stage sensory perception by comparing the sensory perception of preterm and full-term infants at a same post-conception age (i.e. term-aged infants). Our results underlined a larger sensory perception in babies than in adults, through the perception of very subtle tactile stimulations, or else the perception of ultrasounds, that cannot be perceived by grown-ups. The mechanisms of the maturation of sensory organs and of ‘’sensory recentering‘’ towards relevant simulations that can happen in the course of time have been presented. We have also shown a particularly strong reactivity of preterm babies in comparison to full-term babies. Various potential subjacent mechanisms such as a neuronal selectivity adaptation to environmental stimulations, a maintained/ delayed cerebral plasticity or else the development of a hypersensitivity have been discussed. In addition to the core of this thesis, we have taken an interest in the baby’s social “Umwelt” and have studied 1) his abilities in perception and discrimination between human body odours and 2) his ability to express his sensory perception. We have shown that babies are very responsive to their social world, capable of discrimination between different social partners’ odours. Furthermore, babies also are highly expressive when it comes to their sensory perception, especially through the use of a complex vocal repertoire (beyond cries/tears). Indeed, some types of these vocalisations could reflect his state of comfort or discomfort. The results of this thesis open numerous grounds for thought in terms of neonatal care adaptations.
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Neuro-vývojová stimulace v práci speciálního pedagoga / Neuro-developmental stimulation in special education teachers workVolemanová, Marja Annemiek January 2020 (has links)
The aim of the dissertation entitled Neuro-Developmental Stimulation in special education teachers work is to explain a lesser-known phenomenon (persistent primary reflexes and sensory-sensitive integration disorders in children) to determine the prevalence of persistent primary reflexes in pupils from 5 to 8 years and verify effectiveness of the method Neuro- Developmental Stimulation as a possible intervention program for special educators. The theoretical basis is current knowledge about psychomotorics, primary reflexes, sensory perception and sensory-sensitive integration. The main part of the work is research into the prevalence of persistent primary reflexes. The research group consists 345 pupils from 5 to 8 years of age attending regular kindergartens and primary schools and 26 pupils aged 8 to 11 years attending a primary school established pursuant to Section 16, Paragraph 9 of the Czech Education law. Intervention by the Neuro-Developmental Stimulation method is verified in a case study. The next part of the research maps the experience of special pedagogue teachers and speech therapists with the method Neuro-Developmental Stimulation as an intervention program. The research has a quantitative approach. For data collection, questionnaires were distributed among all special pedagogues and...
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Transcriptional Regulatory Logic of Cilium Formation in C. ElegansBrocal Ruiz, Rebeca 03 March 2022 (has links)
[ES] Los cilios son estructuras eucariotas complejas conservadas evolutivamente que, proyectando desde la superficie de las células, desempeñan un gran número de funciones biológicas. Los cilios se clasifican tradicionalmente en móviles o sensoriales y en su composición intervienen cientos de proteínas. Este conjunto de genes que codifican para los componentes ciliares se conoce como cilioma. Las mutaciones en el cilioma subyacen a un grupo cada vez mayor de enfermedades multisistémicas altamente pleiotrópicas denominadas globalmente como ciliopatías. Estas enfermedades se caracterizan, entre otros síntomas, por retraso mental, defectos sensoriales y/o trastornos metabólicos. A pesar de que se estima que 1 de cada 1.000 personas está afectada por estas enfermedades, las bases moleculares de las ciliopatías son todavía poco conocidas.
El adecuado ensamblaje y funcionalidad del cilio requieren de la expresión estrechamente coordinada de los componentes del cilio; sin embargo, se sabe poco sobre la lógica reguladora que controla la transcripción del cilioma. La mayoría de los genes del cilioma son compartidos tanto por cilios móviles como sensoriales. Los factores de transcripción (FTs) de la familia RFX tienen un papel evolutivamente conservado en la regulación transcripcional del cilioma tanto móvil como sensorial. En los vertebrados, la transcripción del cilioma móvil también está regulada directamente por FoxJ1, un FT de la familia forkhead (FKH). Sin embargo, hasta la fecha, se desconocen los FTs que actúan junto a RFX en la transcripción del cilioma sensorial en cualquier organismo.
En este trabajo, hemos identificado a FKH-8, un FT de la familia FKH, como selector terminal del cilioma sensorial de C. elegans. fkh-8 se expresa de forma consistente en las sesenta neuronas sensoriales ciliadas de C. elegans, se une a las regiones reguladoras de los genes del cilioma sensorial, también es necesario para la correcta expresión de los genes del cilioma y actúa de forma sinérgica con el conocido regulador maestro de la ciliogénesis DAF19/RFX. En consecuencia, los mutantes para fkh-8 muestran una amplia gama de defectos de comportamiento en una plétora de paradigmas sensoriales, incluyendo la olfacción, la gustación y la mecano-sensación.
Así, hemos identificado, por primera vez, un FT que actúa junto con los FTs de la familia RFX en la regulación directa del cilioma sensorial. Además, nuestros resultados, junto con trabajos anteriores, muestran que los FTs FKH y RFX actúan conjuntamente en la regulación de los cilios tanto móviles como sensoriales, lo que sugiere que esta lógica reguladora podría ser un rasgo evolutivo antiguo anterior a la subespecialización funcional de los cilios. Finalmente, esperamos que los resultados de nuestro trabajo ayuden a entender mejor las bases biológicas de las ciliopatías huérfanas / [CA] Els cilis són estructures eucariotes complexes conservades evolutivament que, projectant des de la superfície de les cèl·lules, exerceixen un gran nombre de funcions biològiques. Els cilis es classifiquen tradicionalment en mòbils o sensorials i en la seua composició intervenen centenars de proteïnes. Aquest conjunt de gens que codifiquen per als components ciliars es coneix com el cilioma. Les mutacions en el cilioma subjauen a un grup cada vegada major de malalties multisistèmiques altament pleiotròpiques denominades globalment com ciliopaties. Aquestes malalties es caracteritzen, entre altres símptomes, per retard mental, defectes sensorials i/o trastorns metabòlics. A pesar que s'estima que 1 de cada 1.000 persones està afectada per aquestes malalties, les bases moleculars de les ciliopaties són encara poc conegudes.
L'adequat assemblatge i funcionalitat del cili requereixen de l'expressió estretament coordinada dels components del cili; no obstant això, se sap poc sobre la lògica reguladora que controla la transcripció del cilioma. La majoria dels gens del cilioma són compartits tant per cilis mòbils com sensorials. Els factors de transcripció (FTs) de la família RFX tenen un paper evolutivament conservat en la regulació transcripcional del cilioma tant mòbil com sensorial. En els vertebrats, la transcripció del cilioma mòbil també està regulada directament per FoxJ1, un FT de la família forkhead (FKH). No obstant això, fins hui, es desconeixen els FTs que actuen al costat de RFX en la transcripció del cilioma sensorial en qualsevol organisme.
En aquest treball, hem identificat a FKH-8, un FT de la família FKH, com a selector terminal del cilioma sensorial de C. elegans. fkh-8 s'expressa de manera consistent en les seixanta neurones sensorials ciliades de C. elegans, s'uneix a les regions reguladores dels gens del cilioma sensorial, també és necessari per a la correcta expressió dels gens del cilioma i actua de manera sinèrgica amb el conegut regulador mestre de la ciliogènesi DAF-19/RFX. En conseqüència, els mutants per a fkh-8 mostren una àmplia gamma de defectes de comportament en una plètora de paradigmes sensorials, incloent la olfacció, la gustació i la mecano-sensació.
Així, hem identificat, per primera vegada, un FT que actua juntament amb els FTs de la família RFX en la regulació directa del cilioma sensorial. A més, els nostres resultats, juntament amb treballs anteriors, mostren que els FTs FKH i RFX actuen conjuntament en la regulació dels cilis tant mòbils com sensorials, la qual cosa suggereix que aquesta lògica reguladora podria ser un tret evolutiu antic anterior a la subespecialització funcional dels cilis. Finalment, esperem que els resultats del nostre treball ajuden a entendre millor les bases biològiques de les ciliopaties òrfenes. / [EN] Cilia are complex evolutionary conserved eukaryotic structures that, projecting from cell surfaces, perform a variety of biological roles. Cilia are traditionally classified into motile or sensory and hundreds of proteins take part in their composition. This set of genes coding for ciliary components is known as the ciliome. Mutations in the ciliome underlie an ever-growing group of highly pleiotropic multisystemic diseases globally termed as ciliopathies. These diseases are characterized, among other symptoms, by mental retardation, sensory defects and/or metabolic disorders. Despite an estimated 1 in 1,000 people affected by these diseases, the molecular bases of the ciliopathies are still poorly understood.
Proper cilium assembly and functionality requires the tightly co-regulated expression of ciliary components; however, little is known about the regulatory logic controlling ciliome transcription. Most ciliome genes are shared between motile and sensory cilia. RFX transcription factors (TFs) have an evolutionarily conserved role in the transcriptional regulation of both motile and sensory ciliome. In vertebrates, transcription of motile ciliome is also directly regulated by FoxJ1, a Forkhead (FKH) TF. However, to date, TFs working together with RFX in the transcription of the sensory ciliome are unknown in any organism.
In this work, we have identified FKH-8, a FKH TF, as a terminal selector of the sensory ciliome in C. elegans. fkh-8 is consistently expressed within the sixty ciliated sensory neurons of C. elegans, it binds the regulatory regions of the sensory ciliome genes, it is also required for correct ciliome gene expression and acts synergistically with the known master regulator of the ciliogenesis DAF-19/RFX. Accordingly, fkh-8 mutants display a wide range of behavioural defects in a plethora of sensory mediated paradigms, including olfaction, gustation, and mechano-sensation.
Thus, we have identified, for the first time, a TF that acts together with RFX TFs in the direct regulation of the sensory ciliome. Moreover, our results, together with previous work, show that FKH and RFX TFs act together in the regulation of both motile and sensory cilia, suggesting this regulatory logic could be an ancient trait pre-dating functional sub-specialization of cilia. Finally, we hope our results could help better understand the biological basis of orphan ciliopathies. / This thesis project has been made possible thanks to a pre-doctoral fellowship from the FPI Programme (BES-2015-072799) conferred
by the (now extinct) Spanish Ministry of Economy & Competitivity. The following grants also provided a funding frame throughout the
whole research process: “Estudio de los mecanismos transcripcionales que regulan la diferenciación de las neuronas monoaminérgicas y su conservación evolutiva.” SAF2014-56877-R “Dissecting the gene regulatory mechanisms that generate serotonergic neurons and their link to mental disorders.” ERC-St 281920 “Programas de regulación transcripcional asociados a enfermedades genéticas.” SAF2017-84790-R “Regulatory rules and evolution of neuronal gene expression.” ERC-Co 101002203 / Brocal Ruiz, R. (2022). Transcriptional Regulatory Logic of Cilium Formation in C. Elegans [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/181667 / TESIS
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