Geologie und Hydrogeologie im Raum Bad Pyrmont unter besonderer Berücksichtigung des Quellensystems

The hydrodynamics and hydrochemistry of salt and fresh water from solid rock aquifer systems in the Pyrmont area are described and interpreted on the basis of recent investigations including geoelectrics, isotope hydrology, soil air analysis. Theories on the source of the springs in this area are developed, which explain the different compositions of the springs and make it possible to protect them. Data from new and re-interpretated drill holes, borehole logs and outcrops suggest a revision of the geological structure of the Pyrmont dome. Bad Pyrmont is situated on a wide dome of Triassic rocks in the southern part of the Lower Saxony uplands. Inversion of the relief has caused the development of an erosional basin surrounded by prominent ridges. Deep faults developed at the crest of the dome as this part of the structure was subjected to the strongest tectonic stress. Subrosion of the Zechstein salts in the western part of the dome has caused the main salt bed to wedge out below the western part of the dome along a N-S striking structure; this structure is refered to as the „Salzhang“ (salt slope). West of the „Salzhang“, where subrosion has removed the salt bed that prevents gas rising from below, carbon dioxide of deep volcanic origin can now rise to the surface. Hydraulic cross sections illustrate the presence of extensive and deep-seated groundwater flow within the entire Pyrmont dome. While groundwater flow is directed vertically downwards in the ridges surrounding the dome, centripetal horizontal flow predominates the intermediate area. In the central part of the dome, groundwater rises to join the River Emmer, which is the main receiving water course in the central part of the eroded basin. The depth of the saltwater/freshwater interface is determinated by the weight of the superimposed freshwater body. Hydrochemical cross sections show the shape and position of the interface and document a certain degree of hydrochemical zonation of the gently mineralized fresh water. Genetic relationships between the two main water types and the hydrochemical zones of the freshwater body are discussed. The knowledge of the hydrogeological relationship in the Bad Pyrmont aquifer systems permits a spatially narrow coexistence of wells withdrawing groundwater for different purposes (medicinal, mineral, drinking and industrial water).

Construcci?n de sentido de estudiantes de primer semestre de la licenciatura en educaci?n popular : una aproximaci?n desde sus voces y experiencias

El siguiente estudio interpret? los sentidos construidos por un grupo de estudiantes en torno a su vinculaci?n a la carrera Licenciatura en Educaci?n Popular. El m?todo etnogr?fico facilit? t?cnicas y materiales propicios para la Educaci?n Popular, permitiendo observar participativamente, describir y analizar las subjetividades e imaginarios que dotan de sentido el estudio. La construcci?n social de la realidad establecida como esa construcci?n constante y no determinada, esboza la teor?a que desde la pr?ctica, propone nuevas formas de conocimiento. La interacci?n con los estudiantes devela hallazgos que son convertidos en propuestas para la Educaci?n Popular en el ejercicio de la ense?anza y aprendizaje constante, en la validaci?n de lo que emerge y construye sentido por una elecci?n profesional. La intencionalidad de aportar desde las voces de los estudiantes, al plan acad?mico; adem?s de validar la experiencia de quien investiga desde la propia experiencia como estudiante de Educaci?n Popular, aporta a los distintos procesos de evaluaci?n y/o autoevaluaci?n.

Con las experiencias de vida tambi?n se hace educaci?n popular

El presente texto es el resultado de un peque?o ejercicio de investigaci?n que se propuso aplicar el legado de la Educaci?n Popular en el reconocimiento de las historias de vida como herramienta para la comprensi?n de la realidad social y el momento hist?rico. Para ello se retomaron conceptos y teorizaciones acerca del trabajo dom?stico, presente en la realidad social y pol?tica de un pa?s como Colombia, pero sobre todo en una sociedad como Santiago de Cali, donde la econom?a del cuidado y el trabajo dom?stico hacen parte de la condici?n de las mujeres, al igual que las diferencias en cuanto a g?nero y las posibilidades de empoderarse aparecen como elementos que contribuyen a la transformaci?n social. La propuesta se desarroll? desde un modelo cualitativo donde se utiliz? la historia de vida, que se construy? a partir de una entrevista en profundidad, la discusi?n con otras compa?eras y las t?cnicas de la producci?n audiovisual. Al final se concluye que la historia de vida no solo es una herramienta ?til para la Educaci?n Popular, sino que permite la compresi?n de los sujetos inmersos en un contexto social que los atraviesa y define, desde unas relaciones de poder que a su vez definen el lugar social que se ocupa.

Justicia restaurativa, una propuesta comunitaria para fortalecer la convivencia escolar del grado quinto dos, del Colegio Arquidiocesano Juan Pablo II, en Santiago de Cali

El siguiente trabajo tiene como finalidad analizar algunas situaciones de conflicto interpersonal que se originan en el ?mbito escolar, espec?ficamente aquellas que se dan en el grado Quinto Dos del Colegio Arquidiocesano Juan Pablo II para comprender las maneras como ?stas son resueltas por los estudiantes.Por lo tanto, dicha propuesta estuvo encaminada supone una opci?n preferencial por las personas afectadas o las v?ctimas del conflicto. Entendido de este modo, la Justicia Restaurativa en el ?mbito escolar es un mecanismo que puede ayudar significativamente a mejorar las relaciones de convivencia entre estudiantes, docentes y directivos respondiendo de esta forma a los lineamientos de la Ley 1620 de Marzo de 2013, ?por la cual se crea el Sistema Nacional de Convivencia Escolar y Formaci?n para el ejercicio de los Derechos Humanos, la Educaci?n para la Sexualidad y la prevenci?n y mitigaci?n de la Violencia Escolar?, cuyo fin es fomentar y fortalecer la educaci?n en y para la paz.(Art 4). Para el desarrollo de la propuesta, se hizo una caracterizaci?n del contexto escolar y de los tipos de conflictos que se dieron en la cotidianidad del grado Quinto Dos vali?ndose del m?todo etnogr?fico para recoger informaci?n acerca de los tipos de conflictos, las actitudes y posiciones de los estudiantes, docentes y directivos. Con la intenci?n de comprender la problem?tica e identificar posibles soluciones se acudi? a algunos fundamentos de tipo te?rico y legal como: la perspectiva de derechos, la convivencia escolar, la ley 1620 y los postulados de la Justicia restaurativa para identificar alternativas de tipo restaurativo que permitan fortalecer la convivencia y las relaciones entre los estudiantes a trav?s de la resoluci?n pac?fica de conflictos. En la parte final del presente trabajo, se plantean las posibles alternativas para fortalecer la convivencia escolar del grado Quinto Dos, mejorar el ambiente institucional en lo que a resoluci?n pac?fica de conflictos...

Die Solling-Folge (Mittlerer Buntsandstein) im Grenzgebiet Niedersachsen - Thüringen - Hessen

This paper deals with the lithostratigraphic structure of the Solling sequence (Lower Triassic, Middle Buntsandstein) in the area between the Weser river region in the west and the Thuringian Eichsfeld region in the east. Lithologic profile mapping and the gamma-ray logs of several boreholes and 40 exposures have been used to define the lithostratigraphic Classification of the Solling sequence, to mark the facies zones and to find the connection between Sediments of the Thuringian basin in the east and the Weser fault trough via the crest of the Eichsfeld-Altmark Ridge. Tectonically controlled movements of synsedimentary character are the reason for the extreme convergence within the Solling sequence and the extreme Stratigraphie gap at its base (Hardegsen unconformity, Trusheim 1961) in the region of the swells. The discussion also demonstrates the importance of fault bundles active during Triassic and responsible for the thickness pattem of the Solling sequence between the Weser fault trough and the Eichsfeld-Altmark Ridge. The largest Stratigraphie gap is present at the line Brehme (Ohm Mountains) - Beuren - Treffurt where the Solling sequence covers Av/cn/a-bearing layers of the Volpriehausen sequence. In paiticular the Ridge sequences prove the existence of a further erosion unconformity within the Solling sequence (Solling unconformity, Kunz 1965) below the Thuringian Chirotheriensandstein as found by Rohling (1986) in the North German basin at the Stratigraphie level of the Karlshafen layers.

A joint electromagnetic and seismic study of an active pockmark within the hydrate stability field at the Vestnesa Ridge, West Svalbard margin

We acquired coincident marine controlled-source electromagnetic (CSEM), high-resolution seismic reflection and ocean-bottom seismometer (OBS) data over an active pockmark in the crest of the southern part of the Vestnesa Ridge, to estimate fluid composition within an underlying fluid-migration chimney. Synthetic model studies suggest resistivity obtained from CSEM data can resolve gas or hydrate saturation greater than 5% within the chimney. Acoustic chimneys imaged by seismic reflection data beneath the pockmark and on the ridge flanks, were found to be associated with high-resistivity anomalies (+2-4 m). High-velocity anomalies (+0.3 km/s), within the gas hydrate stability zone (GHSZ) and low-velocity anomalies (-0.2 km/s) underlying the GHSZ, were also observed. Joint analysis of the resistivity and velocity anomaly indicates pore saturation of up to 52% hydrate with 28% free gas, or up to 73% hydrate with 4% free gas, within the chimney beneath the pockmark assuming a non-uniform and uniform fluid distribution respectively. Similarly, we estimate up to 30% hydrate with 4% free gas or 30% hydrate with 2% free gas within the pore space of the GHSZ outside the central chimney assuming a non-uniform and uniform fluid distribution respectively. High levels of free-gas saturation in the top part of the chimney are consistent with episodic gas venting from the pockmark.

Geomorphological constraining of tsunami (?) run-up in the Alcantarilha coastal lowland (Central Algarve, Portugal)

The Alcantarilha lowland, partly barred by a well developed barrier, including foredunes covering Pleistocene-Holocene beachrock and aeolianite, develops across the Alcantarilha infilled estuary, the beach-dune extending further SE until the Salgados lagoon. A topographic and coring survey revealed a peculiar feature at the leeward toe of the dune ridge close to the inlet area: a sandy fan with location, shape and morphology suggesting emplacement by single or multiple overwash of the barrier tip rather than tidal forcing. Its storm or tsunami origin and age are under investigation, and the only time-constrain available at present is that it should post-date ca. 6600 cal BP, the most recent in situ aeolianite (Moura et al., 2007) dated so far. METHODS, DATA SET AND RESULTS The fan boundaries are distinctive in aerial photos and satellite images: it is roughly ellipsoidal, ~200 m wide and ~300 m elongated paralleling the shoreline, rising ~ 0.9-1.2 m above the surrounding floodplain surface. Detailed topography shows that its short axis aligns with SW-NE elongated (though irregular) depressions in the dune crest, which link the beach with the fan. This could have favoured funnelling of, or erosion by, water overtopping the barrier but, in either case, the fan should correspond to extreme and abrupt event(s) of coastal flooding. 18 trenches and cores were performed in the exposed area of the fan and nearby flood plain to obtain samples and data on its sedimentology, lithostratigraphy and geometry. The fan consists of well sorted and rounded sand (Fig. 2). It thins away and wedges out landwards of the apex (located near Alc29T) where it is partly covered by dune sand. Its lower boundary is undulating and marked by textural contrast between sand (fan) and underlying mud (alluvial/lagoonal); an accumulation of marine-sourced perforated pebbles showing limited lateral continuity may pinpoint this boundary near the foredune (core Alc 25, ca. 80 m westward of profile in Fig.1); mud-balls were also observed immediately above this surface in cores and trenches. As the washover was probably emplaced in a barred lagoonal/estuarine floodplain setting, the fan’s northern outer belt is enclosed by low-energy sediments (not shown in Fig. 2).

The pianosa contourite depositional system (northern Tyrrhenian sea): drift morphology and plio-quaternary stratigraphic evolution

The Pianosa Contourite Depositional System (CDS) is located in the Corsica Trough (Northern Tyrrhenian Sea), a confined basin dominated by mass transport and contour currents in the eastern flank and by turbidity currents in the western flank. The morphologic and stratigraphic characterisation of the Pianosa CDS is based on multibeam bathymetry, seismic reflection data (multi-channel high resolution mini GI gun, single-channel sparker and CHIRP), sediment cores and ADCP data. The Pianosa CDS is located at shallow to intermediate water depths (170 to 850 m water depth) and is formed under the influence of the Levantine Intermediate Water (LIW). It is 120 km long, has a maximum width of 10 km and is composed of different types of muddy sediment drifts: plastered drift, separated mounded drift, sigmoid drift and multicrested drift. The reduced tectonic activity in the Corsica Trough since the early Pliocene permits to recover a sedimentary record of the contourite depositional system that is only influenced by climate fluctuations. Contourites started to develop in the Middle-Late Pliocene, but their growth was enhanced since the Middle Pleistocene Transition (0.7–0.9 Ma). Although the general circulation of the LIW, flowing northwards in the Corsica Trough, remained active all along the history of the system, contourite drift formation changed, controlled by sediment influx and bottom current velocity. During periods of sea level fall, fast bottom currents often eroded the drift crest in the middle and upper slope. At that time the proximity of the coast to the shelf edge favoured the formation of bioclastic sand deposits winnowed by bottom currents. Higher sediment accumulation of mud in the drifts occurred during periods of fast bottom currents and high sediment availability (i.e. high activity of turbidity currents), coincident with periods of sea level low-stands. Condensed sections were formed during sea level high-stands, when bottom currents were more sluggish and the turbidite system was disconnected, resulting in a lower sediment influx.

Rôle du facteur de transcription PITX1 dans les pathogenèses de l'ostéoporose et des maladies parodontales

L’ostéoporose est une maladie caractérisée par une faible masse osseuse et une détérioration du tissu osseux. Cette condition entraîne une plus grande fragilité osseuse et des risques de fractures. Plusieurs études ont associé l’ostéoporose à la faible densité osseuse des mandibules, à la perte d’attache parodontale, à l’augmentation de la hauteur de la crête alvéolaire et à la chute des dents. Cette étude vise à comprendre les mécanismes sous-jacents cette perte osseuse. En effet, au cours du développement des souris, PITX1 joue un rôle clé dans l'identité des membres postérieurs et dans le bon développement des mandibules et des dents. Son inactivation complète chez la souris mène à un phénotype squelettique sévère. Tandis que, son inactivation partielle provoque des symptômes apparentés à l'arthrose avec une augmentation de la masse osseuse au niveau de l’os cortical et de l’os trabéculaire. Inversement, une étude antérieure chez des jumelles monozygotiques discordantes pour l’ostéoporose, montrent une augmentation d’environ 8.6 fois du niveau d’expression du gène Pitx1 chez la jumelle ostéoporotique. Collectivement, ces données nous ont poussés à investiguer sur le rôle du facteur de transcription PITX1 dans le métabolisme osseux normal et pathologique. Dans ce contexte, des souris transgéniques Col1α1-Pitx1 sur-exprimant Pitx1 spécifiquement dans le tissu osseux sous le promoteur du collagène de type-I (fragment 2.1kpb) ont été générées et phénotypiquement caractérisées. Ces résultats ont révelé que les souris transgéniques Col1α1-Pitx1 présentaient un phénotype similaire à celui des patients ostéoporotiques accompagné d'une perte de dents et des problèmes dentaires et parodontaux. De plus, cette étude a révélé que la surexpression de Pitx1 induit une altération de l’homéostasie osseuse via l’inactivation de la voie de signalisation Wnt/β-caténine canonique. Cette hypothèse a été appuyée par le fait que le traitement des souris transgéniques Col1α1-Pitx1 avec du chlorure de lithium, un activateur de la voie Wnt canonique, prévient le phénotype ostéoporotique chez ces souris. Finalement, cette étude établit un rôle crucial de PITX1 dans la régulation de la masse osseuse et une implication possible dans l’ostéoporose et les maladies parodontales via l’inactivation de la voie de signalisation Wnt/β-caténine canonique.

Orthopaedic anaesthesia for upper extremity procedures in a Nigerian hospital

Background General anaesthesia and regional anaesthesia have been used successfully for upper extremity orthopaedic procedures. Despite the advantages of regional anaesthesia, there is low utilisation in Nigeria. In this study, we assessed the types of anaesthesia employed for upper extremity surgeries in our centre. Methods After obtaining approval from the institutional ethics committee, all the patients who had upper extremity surgeries from 1 January 2011 to 31 December 2012 were included in this review. Both prospective and retrospective data were gathered. The choice of anaesthesia was at the discretion of the attending anaesthetist. Results A total of 226 patients with a male-to-female ratio of 1.6:1 and median age of 35.0 (range 2 – 89) years, had orthopaedic upper extremity procedures during the study period. Sixty-three cases (27.9%) had general anaesthesia, 5 (2.2%) combined regional and general anaesthesia while 158 (69.9%) had regional blocks. The regional blocks comprised 145 (89%) different approaches to the brachial plexus and 18 (11%) local anaesthetic infiltrations. The arm was the site mostly operated upon; while supraclavicular and axillary brachial plexus blocks were performed in equal amounts. In 14 (6.2%) patients, brachial plexus blocks were performed with spinal anaesthesia because of concomitant iliac crest bone grafts. While the duration of surgery did not differ significantly, regional anaesthesia provided a significantly longer duration of anaesthesia than general anaesthesia (251 ± 70.8 min versus 141.3 ± 65.5 min; p = 0.0000001). Conclusion There is a high use of regional anaesthesia for upper extremity orthopaedic surgeries in our centre, which is a positive development in a resource limited setting.

Comparison of two field methods for estimating body fat in different Spanish Dance disciplines

The purpose of the present study was to investigate percentage body fat (%BF) differences in three Spanish dance disciplines and to compare skinfold and bioelectrical impedance predictions of body fat percentage in the same sample. Seventy-six female dancers, divided into three groups, Classical (n=23), Spanish (n=29) and Flamenco (n=24), were measured using skinfold measurements at four sites: triceps, subscapular, biceps and iliac crest, and whole body multi-frequency bioelectrical impedance (BIA). The skin-fold measures were used to predict body fat percentage via Durnin and Womersley's and Segal, Sun and Yannakoulia equations by BIA. Differences in percent fat mass between groups (Classical, Spanish and Flamenco) were tested by using repeated measures analysis (ANOVA). Also, Pearson's product-moment correlations were performed on the body fat percentage values obtained using both methods. In addition, Bland-Altman plots were used to assess agreement, between anthropometric and BIA methods. Repeated measures analysis of variance did not found differences in %BF between modalities (p<0.05). Fat percentage correlations ranged from r= 0.57 to r=0.97 (all, p<0.001). Bland-Altman analysis revealed differences between BIA Yannakoulia as a reference method with BIA Segal (-0.35 ± 2.32%, 95%CI: -0.89to 0.18, p=0.38), with BIA Sun (-0.73 ± 2.3%, 95%CI: -1.27 to -0.20, p=0.014) and Durnin-Womersley (-2.65 ± 2,48%, 95%CI: -3.22 to -2.07, p<0.0001). It was concluded that body fat percentage estimates by BIA compared with skinfold method were systematically different in young adult female ballet dancers, having a tendency to produce underestimations as %BF increased with Segal and Durnin-Womersley equations compared to Yannakoulia, concluding that these methods are not interchangeable.

Características de la esclerosis sistémica, en pacientes de los hospitales Vicente Corral Moscoso y José Carrasco Arteaga durante el período enero 2008 – junio 2015

Antecedentes: La esclerosis sistémica es una enfermedad crónica del tejido conectivo, de etiología desconocida; caracterizada por presentar vasculopatía, autoinmunidad y fibrosis. Genera importantes repercusiones socio sanitarias y hasta la actualidad no tiene cura. Objetivo: Determinar las características demográficas, clínicas e inmunológicas de la Esclerosis Sistémica en pacientes de los Hospitales Vicente Corral Moscoso y José Carrasco Arteaga. Metodología: Es un estudio cuantitativo, descriptivo y retrospectivo. El universo está constituido por los pacientes diagnosticados de esclerosis sistémica en ambos hospitales. La información se recopiló de las historias clínicas y se analizó en Microsoft Excel 2013 y SPSS 19. Se utilizaron variables cuantitativas y cualitativas, mostrándose a través de frecuencias y porcentajes. Se consideró un nivel de asociación estadística para p<0.05. Resultados: La esclerosis sistémica es más común en mujeres. La forma limitada es la predominante. Las manifestaciones clínicas más comunes son las cutáneas, seguida de las osteomusculares y el Síndrome de Raynaud. El grupo de 50-64 años es el que muestra mayor grado de afectación general; en los más jóvenes las afectaciones cutáneas y osteomusculares son las de mayor frecuencia. Los anticuerpos antinucleares resultaron los de mejor valor diagnóstico, siendo positivos en más del 70% de los pacientes. Los tratamientos más comunes se basan en controlar los síntomas, siendo el paracetamol el más utilizado (80,4%). Conclusiones: La Esclerosis Sistémica afecta más a mujeres que a hombres, el grupo etario más frecuente está entre los 25-64 años. La forma limitada predomina sobre la difusa. Sus principales manifestaciones clínicas son las cutáneas

La perturbation du locus Nr2f1-K12 entraine une différenciation gliale précoce dans un nouveau modèle murin de mégacôlon aganglionnaire

La maladie de Hirschsprung est une affection congénitale de la motilité intestinale caractérisée par un segment aganglionnaire dans le côlon terminal. Un criblage génétique par mutation insertionnelle aléatoire chez la souris nous a permis d’identifier la lignée transgénique Spot dont les homozygotes souffrent de mégacôlon aganglionnaire. L’analyse d’intestins d’embryons mutants a révélé une baisse de prolifération et un délai de migration des cellules de la crête neurale entériques (CCNe) progénitrices dus à leur différenciation gliale précoce, entrainant un défaut de colonisation de l’intestin et une aganglionose du côlon. Le séquençage du génome Spot indique que le transgène s’est inséré à l’intérieur du locus K12-Nr2f1 sur le chromosome 13, une région dépourvue de gènes préalablement associés à la maladie, perturbant également une séquence non-codante très conservée dans l’évolution. K12 est un gène d’ARN long non codant (ARNlnc) et antisens du gène Nr2f1, lui-même impliqué dans la gliogénèse du système nerveux central. Le séquençage du transcriptome des CCN a montré une surexpression de Nr2f1 et des formes courtes de K12 chez Spot et des essais luciférase ont révélé l’activité répressive de l’élément conservé. Nous avons observé l’expression de K12 dans les CCNe et sa localisation subcellulaire dans des zones transcriptionnellement actives du noyau. Avec l’émergence des ARNlnc régulateurs, ces données nous permettent de pointer deux nouveaux gènes candidats associés à une différenciation gliale prématurée du SNE menant au mégacôlon aganglionnaire, en supposant que la régulation de Nr2f1 se fait par son antisens, K12.

The Role of the Transcription Factor Ets1 in Melanocyte Development

Melanocytes, pigment-producing cells, derive from the neural crest (NC), a population of pluripotent cells that arise from the dorsal aspect of the neural tube during embryogenesis. Many genes required for melanocyte development were identified using mouse pigmentation mutants. The deletion of the transcription factor Ets1 in mice results in hypopigmentation; nevertheless, the function of Ets1 in melanocyte development is unknown. The goal of the present study was to establish the temporal requirement and role of Ets1 in murine melanocyte development. In the mouse, Ets1 is widely expressed in developing organs and tissues, including the NC. In the chick cranial NC, Ets1 is required for the expression of Sox10, a transcription factor critical for the development of melanocytes, enteric ganglia, and other NC derivatives. Using a combination of immunofluorescence and cell survival assays Ets1 was found to be required between embryonic days 10 and 11, when it regulates NC cell and melanocyte precursor (melanoblast) survival. Given the requirement of Ets1 for Sox10 expression in the chick cranial NC, a potential interaction between these genes was investigated. Using genetic crosses, a synergistic genetic interaction between Ets1 and Sox10 in melanocyte development was found. Since Sox10 is essential for enteric ganglia formation, the importance of Ets1 on gut innervation was also examined. In mice, Ets1 deletion led to decreased gut innervation, which was exacerbated by Sox10 heterozygosity. At the molecular level, Ets1 was found to activate a Sox10 enhancer critical for Sox10 expression in melanoblasts. Furthermore, mutating Ets1 at a site I characterized in the spontaneous variable spotting mouse pigmentation mutant, led to a 2-fold decrease in enhancer activation. Overexpression and knockdown of Ets1 did not affect Sox10 expression; nonetheless, Ets1 knockdown led to a 6-fold upregulation of the transcription factor Sox9, a gene required for melanocyte and chondrocyte development, but which impairs melanocyte development when its expression is prolonged. Together, these results suggest that Ets1 is required early during melanocyte development for NC cell and melanoblast survival, possibly acting upstream of Sox10. The transcription factor Ets1 may also act indirectly in melanocyte fate specification by repressing Sox9 expression, and consequently cartilage fate.

La perturbation du locus Nr2f1-K12 entraine une différenciation gliale précoce dans un nouveau modèle murin de mégacôlon aganglionnaire

La maladie de Hirschsprung est une affection congénitale de la motilité intestinale caractérisée par un segment aganglionnaire dans le côlon terminal. Un criblage génétique par mutation insertionnelle aléatoire chez la souris nous a permis d’identifier la lignée transgénique Spot dont les homozygotes souffrent de mégacôlon aganglionnaire. L’analyse d’intestins d’embryons mutants a révélé une baisse de prolifération et un délai de migration des cellules de la crête neurale entériques (CCNe) progénitrices dus à leur différenciation gliale précoce, entrainant un défaut de colonisation de l’intestin et une aganglionose du côlon. Le séquençage du génome Spot indique que le transgène s’est inséré à l’intérieur du locus K12-Nr2f1 sur le chromosome 13, une région dépourvue de gènes préalablement associés à la maladie, perturbant également une séquence non-codante très conservée dans l’évolution. K12 est un gène d’ARN long non codant (ARNlnc) et antisens du gène Nr2f1, lui-même impliqué dans la gliogénèse du système nerveux central. Le séquençage du transcriptome des CCN a montré une surexpression de Nr2f1 et des formes courtes de K12 chez Spot et des essais luciférase ont révélé l’activité répressive de l’élément conservé. Nous avons observé l’expression de K12 dans les CCNe et sa localisation subcellulaire dans des zones transcriptionnellement actives du noyau. Avec l’émergence des ARNlnc régulateurs, ces données nous permettent de pointer deux nouveaux gènes candidats associés à une différenciation gliale prématurée du SNE menant au mégacôlon aganglionnaire, en supposant que la régulation de Nr2f1 se fait par son antisens, K12.