Parchados : a gastronomic experience that highlights the culture of Colombia

A lo largo de los años, la comida típica colombiana ha tenido una disminución en el interés por parte de los habitantes del país, lo que ha generado que la comida no sea lo suficientemente resaltada y atractiva especialmente por los jóvenes colombianos, que se encuentran en un rango entre los 18 a los 28 años de edad (David, Quintero; 2019). La gastronomía colombiana es única y tiene una amplia variedad de platos y bebidas que cuentan una historia detrás acerca de la cultura colombiana, sin embargo no es una alternativa de preferencia para este segmento a la hora de reunirse entre amigos. Por lo que por medio de este proyecto se genera que un “parche”, de jóvenes residentes de Bogotá, se entusiasme por conocer Colombia y su diversidad cultural, por medio de una experiencia gastronómica, típica del país, en la que todos los sentidos participen de manera holística.Over the years, typical Colombian food has had a decrease in interest on the part of the country's inhabitants, which has led to the food not being sufficiently highlighted and attractive, especially by young Colombians, who are in a range between 18 to 28 years of age (David, Quintero; 2019). Colombian gastronomy is unique and has a wide variety of dishes and drinks that tell a story behind about Colombian culture, however it is not a preferred alternative for this segment when it comes to friends social reunions. Therefore, through this project, a “parche” of young residents of Bogotá is generated to be enthusiastic about knowing Colombia and its cultural diversity, through a gastronomic experience, typical of the country, in which all the senses participate. holistically.Diseñador (a) IndustrialPregrad

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

Abstract\ud \ud CDKN1C (also known as P57\ud \ud kip2\ud ) is a cyclin-dependent kinase inhibitor that functions as a negative regulator of cell proliferation through G1 phase cell cycle arrest. Recently, our group described gain-of-function mutations in the PCNA-binding site of CDKN1C that result in an undergrowth syndrome called IMAGe Syndrome (Intrauterine Growth Restriction, Metaphyseal dysplasia, Adrenal hypoplasia, and Genital anomalies), with life-threatening consequences. Loss-of-function mutations in CDKN1C have been identified in 5-10% of individuals with Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with features that are the opposite of IMAGe syndrome. Here, we investigate the effects of IMAGe-associated mutations on protein stability, cell cycle progression and cell proliferation. Mutations in the PCNA-binding site of CDKN1C significantly increase CDKN1C protein stability and prevent cell cycle progression into the S phase. Overexpression of either wild-type or BWS-mutant CDKN1C inhibited cell proliferation. However, the IMAGe-mutant CDKN1C protein decreased cell growth significantly more than both the wild-type or BWS protein. These findings bring new insights into the molecular events underlying IMAGe syndrome.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP process number 2012/09391-0

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases

TRY plant trait database – enhanced coverage and open access

Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Molecular Mechanisms in Male Sex Determination

Disorders of Sex Development (DSD) encompass a wide range of urogenital anomalies, ranging from mild hypospadias to sex reversal with genital ambiguity that occur in approximately 0.5-1% of live births. Despite the prevalence of DSD, the molecular mechanisms behind the transformation of the bipotential gonad into a testis or an ovary are not completely understood. In this thesis, we explore molecular mechanisms in mammalian sex determination using mouse and human models of sex development.To identify novel genomic regions and genes in sex determination, we utilize a long- standing and powerful model in mammalian sex determination, the C57BL/6J (B6)-YPOS. None of the B6-YPOS animals have fully normal testis during embryonic development. Our approach utilizes a congenic strain in which a region of 129S1/SvIM (129) origin on chromosome 11 protects from B6-YPOS sex reversal (abbreviated as B6.129-YPOS). Using traditional mouse genetics and backcrossing, we narrowed the 50 megabase (Mb) congenic region to a protective two Mb interval containing only the promoter region of Sox9, a known male sex determination gene.In order to facilitate a genetic diagnosis of patients with DSD, we developed a novel targeted diagnostic tool based on next generation sequencing technology to rapidly provide a genetic diagnosis in these patients. Using a single test, we can assess sex chromosome karyotype, copy number variation (CNV), and identify damaging single nucleotide variants (SNV) which may result in disease. We have validated our targeted sequencing approach in a pilot group of 14 patients with DSD. Currently, less than 20% of all patients with a DSD receive a definitive diagnosis, yet this type of comprehensive genetic test is critical to assigning appropriate treatment, predicting future development, and evaluating outcomes in this unique patient population.The synergism between discoveries in mouse and human genetics has existed throughout the history of sex development research--with animal models informing human research, and vice versa. As genomic tools continue to exponentially increase the amount of data generated, this long and healthy relationship between human and mouse genetics will continue to elucidate the complex genetic regulation in sex determination