Resequencing

[ES] La revolución que supone la secuenciación de próxima generación está permitiendo la resecuenciación del genoma completo (WGRS) de cientos o incluso miles de ejemplares de cultivos básicos y especies modelo. Con el lanzamiento de su genoma de referencia, progresivamente se están emprendiendo proyectos WGRS también para otras especies de plantas en una amplia variedad de estudios. En berenjena común (Solanum melongena L.), aunque se ha publicado un primer borrador de la secuencia del genoma de referencia, hasta el momento no se han realizado estudios de resecuenciación. En este capítulo presentamos los primeros resultados de la resecuenciación de ocho accesiones, siete de berenjena común y una del pariente silvestre S. incanum L., que corresponden a los progenitores de un cruce multiparental de generación avanzada (MAGIC) población que se encuentra actualmente en desarrollo utilizando la secuencia del genoma de la berenjena recién desarrollada que se presenta en el Cap. 7 de este libro. Se identificaron más de diez millones de polimorfismos entre las accesiones, el 90% de ellos en el S. incanum silvestre relacionado, lo que confirma la erosión genética de la berenjena común cultivada. Entre los progenitores de la población MAGIC, el patrón de distribución de polimorfismos comunes a lo largo de los cromosomas ha revelado posibles huellas de introgresión ancestral de cruces interespecíficos. El conjunto de polimorfismos se ha anotado extensamente y actualmente se está utilizando para análisis adicionales con el fin de genotipar eficientemente la población MAGIC en curso y diseccionar rasgos agronómicos y morfológicos importantes. La información proporcionada en este primer estudio de resecuenciación en berenjena será extremadamente útil para ayudar al fitomejoramiento a desarrollar nuevas variedades mejoradas y resistentes para enfrentar futuras amenazas y desafíos.[EN] The next-generation sequencing revolution is allowing the whole-genome resequencing (WGRS) of hundreds or even thousands of accessions for staple crops and model species. With the release of their reference genome, progressively also other plants, species are undertaking WGRS projects for a broad variety of studies. In common eggplant (Solanum melongena L.), although a first draft of the reference genome sequence has been published, no resequencing studies have been performed so far. In this chapter, we present the first results of the resequencing of eight accessions, seven of common eggplant and one of the wild relative S. incanum L., that correspond to the parents of a multi-parent advanced generation inter-cross (MAGIC) population that is currently under develop- ment using the newly developed eggplant genome sequence presented in Chap. 7 of this book. Over ten million polymorphisms were identified among the accessions, 90% of them in the wild related S. incanum, confirming the genetic erosion of the cultivated common eggplant. Among the MAGIC population parents, the common polymorphism distribu- tion pattern along the chromosomes has revealed possible footprints of ancestral intro- gression from interspecific crosses. The set of polymorphisms has been extensively anno- tated and currently is being used for further analyses in order to efficiently genotype the ongoing MAGIC population and to dissect important agronomic and morphological traits. The information provided in this first resequencing study in eggplant will be extremely helpful to assist plant breeding to develop new improved and resilient varieties to face future threats and challenges.This work has received funding from the European Union’s Horizon 2020 Research and Innovation Programme under grant agreement No 677379 (G2P-SOL project: Linking genetic resources, genomes and phenotypes of Solanaceous crops) and from Spanish Ministerio de Economía, Industria y Competitividad and Fondo Europeo de Desarrollo Regional (grant AGL2015-64755-R from MINECO/FEDER).Prohens Tomás, J.; Vilanova Navarro, S.; Gramazio, P. (2019). Resequencing. En The Eggplant Genome. Springer. 81-89. http://hdl.handle.net/10251/181875S818

Preclinical Morphofunctional Alterations of Large Arteries in Children and Adolescent with Type 1 Diabetes Mellitus: Preliminary Data

Background: Children and adolescent with type 1 diabetes mellitus (T1DM) are considered one of the pediatric populations at highest cardiovascular risk. Aim: This cross-sectional study was aimed to assess in children and adolescents with T1DM, the clinical correlates of early morphofunctional changes of the large arteries. Methods: Children and adolescents with T1DM treated with basal-bolus insulin therapy were included in the study if they had a disease duration of at least 5 years. The following parameter were examined: waist circumference, waist/height ratio (W/H), BMI, blood pressures, lipid profile, microalbuminuria, insulin dose, HbA1c, carotid intima-media thickness (c-IMT) and the difference between the observed and 95th percentile of age and height c-IMT distribution (Δc-IMT), aortic pulse wave velocity (Ao PWV) and the difference between the observed and 90th percentile of age Ao PWV distribution (ΔPWVAo). The study population was divided into two groups, on the basis of a value of W/H 0.5. Results: A total of 45 (20 males and 25 females) children and adolescents were included in the study. Their mean age was 14.0±2.7 years, their disease duration 6.2±3.5 years. Significant correlations were found between W/H and age Δc-IMT (p= 0.009), height Δc-IMT (p= 0.008), and mean c-IMT (p= 0.015). AoPWV correlated with HbA1c values (p= 0.012), diastolic blood pressures (p=0.014), triglycerides (TG) (p= 0.009) and with microalbuminuria (p= 0.017). Subjects with W/H > 0.5 have higher values of mean c-IMT (p= 0.03), age ∆cIMT (p=0.02) and height ∆cIMT (p= 0.02). Conclusion: In children and adolescents with T1DM morphofunctional changes of the large arteries are associated with different clinical features, including the waist/height ratio. It showed a stronger correlation with c-IMTA than other indices of adiposity. Its simple measurement may allow to better assess the cardiovascular risk of T1DM pediatric patients