High-quality de novo assembly of the apple genome and methylome dynamics of early fruit development

Using the latest sequencing and optical mapping technologies, we have produced a high-quality de novo assembly of the apple (Malus domestica Borkh.) genome. Repeat sequences, which represented over half of the assembly, provided an unprecedented opportunity to investigate the uncharacterized regions of a tree genome; we identified a new hyper-repetitive retrotransposon sequence that was over-represented in heterochromatic regions and estimated that a major burst of different transposable elements (TEs) occurred 21 million years ago. Notably, the timing of this TE burst coincided with the uplift of the Tian Shan mountains, which is thought to be the center of the location where the apple originated, suggesting that TEs and associated processes may have contributed to the diversification of the apple ancestor and possibly to its divergence from pear. Finally, genome-wide DNA methylation data suggest that epigenetic marks may contribute to agronomically relevant aspects, such as apple fruit development

CALIDAD DIETARIA, SATISFACCIÓN VITAL Y ESTADOS DE MALNUTRICIÓN EN ANCIANOS, CÓRDOBA, REPÚBLICA ARGENTINA, 2007

Determinar la relación entre calidad dietaria, satisfacción vital y estados de malnutrición en Adultos mayores, de ambos sexos, que asisten a Hogares de Día provinciales en  ciudad de Córdoba, año 2007.Estudio descriptivo correlacional, transversal. Universo: Ancianos autoválidos de ambos sexos ≥60 años (N=1360) que asisten a 34 Hogares de Día. Muestreo polietápico. n = 248 (53,6% varones; 46,4% mujeres). Se firmó consentimiento informado. Variables principales: sexo, grupos de edad, nivel de instrucción, convivencia, calidad de la dieta, que se categorizó: Dieta variada (DV), medianamente variada (DMV) y monótona (DM) a partir del consumo diario de los grupos de alimentos establecidos en Guías Alimentarias para la Población Argentina. 2000, satisfacción con la vida (SV), categorizada en muy satisfecho, satisfecho, ni satisfecho ni insatisfecho, insatisfecho, muy insatisfecho; estado nutricional: malnutrición por déficit MND (IMC≤23,9 kg/m2), normalidad ENN (IMC 24-27 kg/m2), malnutrición por exceso MNE (IMC ≥27,1 kg/m2). El 87.5 % de la población se distribuyó en las categorías viejo-joven y vejez-media. El promedio de edad en hombres fue 71,5 años±7,05; en mujeres: 70,9 años ±7,2. La mitad de la población poseía nivel de instrucción bajo. El 27,8% de ancianos vivían solos y 1/3 en compañía de cónyuge, solo o con otras personas. El 63,3%  consumía DM sin diferencias significativas por sexo y solo el 26,6% DV. El 15,8% de DM fue por falta de consumo de tres o más grupos de alimentos. La media de puntaje en el cuestionario de SV fue 16,96 ± 4,11 puntos. El  42,9% de entrevistados llevaba el tipo de vida que siempre soñó tener; el 62,8% consideró excelente sus Condiciones actuales de vida; el 71,3 % respondió haber conseguido las cosas importantes que había deseado en la vida. Del total de ancianos, el 20,2 % estuvo muy satisfecho con su vida, y el 44,9 % satisfecho. No se asociaron estadísticamente estado nutricional y SV. Hubo asociación significativa entre ENN y consumo de DV (p=0,021) y entre MND y vivir con otras personas (no familiares) (p= 0,040). La mayor parte de Adultos Mayores estudiados estuvo Satisfecho con su Vida. La DM fue predominante en el grupo. La población presentó elevada prevalencia de MNE, con obesidad en mujeres y pre-obesidad en varones. Se encontró asociación entre la categoría satisfechos con la vida y DV, y entre DV y ENN. Abstract To determine the relation between dietary quality, vital satisfaction and malnutrition’s state in older adults, of both sex, whose concur to an old people’s home, in Córdoba city, in 2007. Study descriptive, corelational, crosssectional. Universe: old people without cognitive and physical disabilities, ≥60 years old. N=1360. Who concur to 34 old people’s home. Multistage sampling:  n = 248 (53,6% males; 46,4% females). People who participated signed a consent. Main Variables: sex, groups of age, level of instruction, living together, diet quality, which was  categorized in: varied diet (VD), medium varied diet (MVD), monotonous diet (MD) as from the daily consumption of the six food groups determinated in Dietary Guidelines for Argentinian population 2000); satisfaction with life (SL) was categorized in very satisfied, satisfied, neither satisfied nor dissatisfied, dissatisfied, very dissatisfied; nutritional’s state categorized undernutrition (UN) (BMI ≤23,9 kg/m2), normality (SNN) (BMI 24 -27 kg/m2), malnutrition for excess (MNE) (BMI ≥27 kg/m2). The 87,5% of the population was distributied in the category of young-old and medium old (in young-old and medium old categories). The age average in men was 71,5 ±7,05 years, and 70,9 ±7,2 years in women. The half of the population had a low level of instruction. The 27,8% of old people was living alone and 1/3 was living with the couple, or with other people. The 63.3% of population had cosumed MD without significant differences between sexs, and just the 26,6% had consumed VD. The 15,8% of MD was due to lack of consumes of three or more food groups. The average scoring in the VS questionnaire was 16,96 ± 4,11 points. It was remark that the 42,9% of interviewed has the life that a lurcups dream. The 62,8% considered his/her life’s condition are excellent; 71,3% responded that they had obtained the important thing that wanting in his/her lifes. Of all, the 20,2% was very satisfied with his/her life, and 44,9% satisfied. There was not statistical association between nutritional status and VS. There was significant association between SNN and consumption of VD (p: 0,021) and between UN and to live with other people (no family). Most of old people was satisfied with her/his life. The MD was predominant in the group. The population had a elevated prevalence of MNE., whit obesity in women and pre-obesity in man. It was found association between VS and VD, and between VD and SNN. Palabras claves: Calidad Dietaria, Satisfación vital, Estados de Malnutrición, Adultos Mayores

Additional amphivasal bundles in pedicel pith exacerbate central fruit dominance and induce self-thinning of lateral fruitlets in apple

Apple (Malus x domestica) trees naturally produce an excess of fruitlets that negatively affect the commercial value of fruits brought to maturity, and impact their capacity to develop flower buds the following season. Therefore, chemical thinning has become an important cultural practice allowing the selective removal of unwanted fruitlets. As the public pressure to limit the use of chemical agents increases, the control of thinning becomes a major issue. Here, we characterized the self-thinning capacity of an apple hybrid-genotype, from a tree scale to a molecular level. Additional amphivasal vascular bundles were identified in the pith of pedicels supporting the fruitlets with the lowest abscission potential (central fruitlet), indicating that these bundles might have a role in the acquisition of dominance over lateral fruitlets. Sugar content analysis revealed that central fruitlets were better supplied in sorbitol than laterals\u27. Transcriptomic profiles allowed us to identify genes potentially involved in the over-production of vascular tissues in central pedicels. In addition, histological and transcriptomic data permitted a detailed characterization of abscission zone (AZ) development and the identification of key genes involved in this process. Our data confirm the major role of ethylene, auxin, and cell wall remodeling enzymes in AZ formation. The shedding process in this hybrid appears to be triggered by a naturally exacerbated dominance of central fruitlets over lateral ones, brought about by an increased supply of sugars, possibly through additional amphivasal vascular bundles. The characterization of this genotype opens new perspectives for the selection of elite apple cultivars

Single-Cell Analysis of Ploidy and Centrosomes Underscores the Peculiarity of Normal Hepatocytes

Polyploidization is the most well recognized feature of the liver. Yet, a quantitative and behavioral analysis of centrosomes and DNA content in normal hepatocytes has been limited by the technical challenges of methods available. By using a novel approach employing FISH for chromosomes 18, X and Y we provide, for the first time, a detailed analysis of DNA copies during physiological development in the liver at single cell level. We demonstrate that aneuploidy and unbalanced DNA content in binucleated hepatocytes are common features in normal adult liver. Despite the common belief that hepatocytes contain 1, 2 or no more than 4 centrosomes, our double staining for centrosome associated proteins reveals extranumerary centrosomes in a high percentage of cells as early as 15 days of age. We show that in murine liver the period between 15 days and 1.5 months marks the transition from a prevalence of mononucleated cells to up to 75% of binucleated cells. Our data demonstrate that this timing correlates with a switch in centrosomes number. At 15 days the expected 1 or 2 centrosomes converge with several hepatocytes that contain 3 centrosomes; at 1.5 months the percentage of cells with 3 centrosomes decreases concomitantly with the increase of cells with more than 4 centrosomes. Our analysis shows that the extranumerary centrosomes emerge in concomitance with the process of binucleation and polyploidization and maintain α-tubulin nucleation activity. Finally, by integrating interphase FISH and immunofluorescent approaches, we detected an imbalance between centrosome number and DNA content in liver cells that deviates from the equilibrium expected in normal cells. We speculate that these unique features are relevant to the peculiar biological function of liver cells which are continuously challenged by stress, a condition that could predispose to genomic instability

Delineation of QTLS for resistance to fire blight in malus Robusta 5 accessions (P467)

Breeding of fire blight resistant scions and rootstocks is a goal of several international apple breeding programmes, as options are limited for management of this destructive disease of caused by the bacterial pathogen Erwinia amylovora. Genetic mapping of quantitative trait loci (QTLs) for resistance has been a first step towards enabling marker assisted selection for fire blight resistance. A large effect QTL for fire blight resistance has been previously reported on Linkage Group (LG) 3 of Malus 'Robusta 5' (Peil et al. 2007, 2008). In this study, we first re-considered the quantification of the complex disease phenotype in two 'Robusta 5' mapping populations used in previous studies and then employed both composite interval mapping (CIM) for analysis of single QTLs and the additional QTL mapping (addqtl) function of R/qtl software. CIM enabled the resolution of individual QTLs at distinct locations in the two populations with peaks located 6 cM apart. The upper of these two QTL co-located with a leucine-rich repeat receptor-like protein (MxdRLP1) candidate resistance gene. Subsequent analysis with addqtl enabled the detection of an additional QTL in one of the mapping populations where a single QTL had previously been mapped. The additional QTL was in a similar location to the upper of the two QTL detected by CIM. Allelotypic differences within LG3 that were detected between the 'Robusta 5' clones used in the study are believed to underlie the differential effects in the two mapping populations. (Texte intégral

Analysis of transcripts differentially expressed between fruited and deflowered ‘Gala’ adult trees: a contribution to biennial bearing understanding in apple

Background The transition from vegetative to floral state in shoot apical meristems (SAM) is a key event in plant development and is of crucial importance for reproductive success. In perennial plants, this event is recurrent during tree life and subject to both within-tree and between-years heterogeneity. In the present study, our goal was to identify candidate processes involved in the repression or induction of flowering in apical buds of adult apple trees. Results Genes differentially expressed (GDE) were examined between trees artificially set in either ‘ON’ or ‘OFF’ situation, and in which floral induction (FI) was shown to be inhibited or induced in most buds, respectively, using qRT-PCR and microarray analysis. From the period of FI through to flower differentiation, GDE belonged to four main biological processes (i) response to stimuli, including response to oxidative stress; (ii) cellular processes, (iii) cell wall biogenesis, and (iv) metabolic processes including carbohydrate biosynthesis and lipid metabolic process. Several key regulator genes, especially TEMPRANILLO (TEM), FLORAL TRANSITION AT MERISTEM (FTM1) and SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) were found differentially expressed. Moreover, homologs of SPL and Leucine-Rich Repeat proteins were present under QTL zones previously detected for biennial bearing. Conclusions This data set suggests that apical buds of ‘ON’ and ‘OFF’ trees were in different physiological states, resulting from different metabolic, hormonal and redox status which are likely to contribute to FI control in adult apple trees. Investigations on carbohydrate and hormonal fluxes from sources to SAM and on cell detoxification process are expected to further contribute to the identification of the underlying physiological mechanisms of FI in adult apple trees

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

Age at onset of Huntington's disease (HD) is largely determined by the CAG trinucleotide repeat length in the HTT gene. Importantly, the CAG repeat undergoes tissue-specific somatic instability, prevalent in brain regions that are disease targets, suggesting a potential role for somatic CAG repeat instability in modifying HD pathogenesis. Thus, understanding underlying mechanisms of somatic CAG repeat instability may lead to discoveries of novel therapeutics for HD. Investigation of the dynamics of the CAG repeat size changes over time may provide insights into the mechanisms underlying CAG repeat instability.To understand how the HTT CAG repeat length changes over time, we quantified somatic instability of the CAG repeat in Huntington's disease CAG knock-in mice from 2-16 months of age in liver, striatum, spleen and tail. The HTT CAG repeat in spleen and tail was very stable, but that in liver and striatum expanded over time at an average rate of one CAG per month. Interestingly, the patterns of repeat instability were different between liver and striatum. Unstable CAG repeats in liver repeatedly gained similar sizes of additional CAG repeats (approximately two CAGs per month), maintaining a distinct population of unstable repeats. In contrast, unstable CAG repeats in striatum gained additional repeats with different sizes resulting in broadly distributed unstable CAG repeats. Expanded CAG repeats in the liver were highly enriched in polyploid hepatocytes, suggesting that the pattern of liver instability may reflect the restriction of the unstable repeats to a unique cell type.Our results are consistent with repeat expansion occurring as a consequence of recurrent small repeat insertions that differ in different tissues. Investigation of the specific mechanisms that underlie liver and striatal instability will contribute to our understanding of the relationship between instability and disease and the means to intervene in this process

Manual de evaluación de la omisión de las estadísticas vitales a nivel subnacional. Un estándar metodológico para América Latina y el Caribe

Este manual presenta los alcances y logros del proyecto de investigación denominado “Desarrollo de un estándar metodológico para la evaluación desagregada de la omisión de nacimientos y defunciones en los Sistemas de Información para la Salud de América Latina y el Caribe (ALyC)”. El proyecto fue desarrollado por investigadores de la Universidad Nacional de Córdoba (Argentina) y financiado por la Organización Panamericana de la Salud (en adelante OPS) - Oficina Regional para las Américas de la Organización Mundial de la Salud (OMS). Se enmarcó dentro de la convocatoria, realizada por la OPS, para la ejecución de proyectos destinados a mejorar los Sistemas de Información para la Salud (IS4H-2019 por sus siglas en inglés), en la región de las Américas. Esta convocatoria estuvo orientada a patrocinar la ejecución de proyectos que contribuyeran a lograr objetivos de salud pública existentes, que cumplieran con mandatos regionales y globales previos, que mostrasen evidencias de una comprensión sólida del tema propuesto y que ofrecieran herramientas para el mejoramiento de las políticas públicas que se implementan en la región. Esta iniciativa se propuso abordar, particularmente, la calidad de los registros de estadísticas vitales subnacionales que constituyen insumos estratégicos para la formulación y evaluación de políticas públicas regionales. El período temporal analizado abarcó desde el año 2000 y alcanzó a todos los países de América Latina y el Caribe.Fil: Andreozzi, Lucía. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Bertone, Carola Leticia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas; Argentina.Fil: Fantín, María Alejandra. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Celton, Dora Estela. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Ribotta, Bruno Sebastian. Universidad Nacional de Córdoba. Facultad de Ciencias Económicas; Argentina.Fil: Andreozzi, Lucía. Consejo Nacional de Investigaciones Científicas y Tecnológicas; Argentina.Fil: Bertone, Carola Leticia. Universidad Nacional de la Rioja. Consejo Nacional de Investigaciones Científicas y Tecnológicas; Argentina.Fil: Bertone, Carola Leticia. Universidad Nacional de la Rioja; Argentina.Fil: Fatín, María Alejandra. Universidad Nacional del Nordeste; Argentina.Fil: Fatín, María Alejandra. Universidad Nacional del Nordeste. Consejo Nacional de Investigaciones Científicas y Tecnológicas; Argentina.Fil: González, Leandro Mariano. Universidad Católica de Córdoba; Argentina.Fil: González, Leandro Mariano. Consejo Nacional de Investigaciones Científicas y Tecnológicas; Argentina.Fil: Peranovich, Andrés Conrado. Universidad Nacional de Córdoba. Consejo Nacional de Investigaciones Científicas y Tecnológicas. Centro de Investigaciones y Estudios sobre Cultura y Sociedad; Argentina.Fil: Peranovich, Andrés Conrado. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas; Argentina.Fil: Salazar Acosta, Luisa María. Universidad Nacional de Salta; Argentina.Fil: Salazar Acosta, Luisa María. Fondo de las Naciones Unidas para la Infancia; Argentina.Fil: Celton, Dora Estela. Consejo Nacional de Investigaciones Científicas y Tecnológicas; Argentina.Fil: Ribotta, Bruno Sebastián. Universidad Nacional de Córdoba. Consejo Nacional de Investigaciones Científicas y Tecnológicas. Centro de Investigaciones y Estudio sobre Cultura y Sociedad; Argentina