Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.

Environmental sex reversal, Trojan sex genes, and sex ratio adjustment: conditions and population consequences.

Abstract The great diversity of sex determination mechanisms in animals and plants ranges from genetic sex determination (GSD, e.g. mammals, birds, and most dioecious plants) to environmental sex determination (ESD, e.g. many reptiles) and includes a mixture of both, for example when an individual's genetically determined sex is environmentally reversed during ontogeny (ESR, environmental sex reversal, e.g. many fish and amphibia). ESD and ESR can lead to widely varying and unstable population sex ratios. Populations exposed to conditions such as endocrine-active substances or temperature shifts may decline over time due to skewed sex ratios, a scenario that may become increasingly relevant with greater anthropogenic interference on watercourses. Continuous exposure of populations to factors causing ESR could lead to the extinction of genetic sex factors and may render a population dependent on the environmental factors that induce the sex change. However, ESR also presents opportunities for population management, especially if the Y or W chromosome is not, or not severely, degenerated. This seems to be the case in many amphibians and fish. Population growth or decline in such species can potentially be controlled through the introduction of so-called Trojan sex genes carriers, individuals that possess sex chromosomes or genes opposite from what their phenotype predicts. Here, we review the conditions for ESR, its prevalence in natural populations, the resulting physiological and reproductive consequences, and how these may become instrumental for population management.

Babel y la Biblioteca, máscaras del mito en la lingüística

Los manuales de historia de la lingüística tratan del mito bíblico de Babel y del nacimiento de la gramática en Alejandría de manos de Dionisio de Tracia. Estos pasajes de la historia, que corresponden a épocas diferentes, remiten a dos problemas fundamentales de la lingüística: por una parte, el origen del lenguaje y la diversidad lingüística; por la otra, la invención de la gramática como instrumento para la edición de textos y para el conocimiento formal de la lengua. Pese a las diferencias, Babel y la biblioteca de Alejandría tienen en común una naturaleza mítica. Sus relatos contienen elementos de la ficción y de la realidad que suelen pasar desapercibidos. El artículo señala estos elementos y establece ciertas afinidades entre Babel y la biblioteca, de suerte que articulados componen un ciclo narrativo. // Abstract.- Babel and the Library, the myth masks in Linguistics. History textbooks of linguistics explain the biblical myth of Babel and the birth of grammar in Alexandria at the hands of Dionysius Thrax. These passages of history, which correspond to different times, refer to two fundamental problems of linguistics: first, the origin of language and linguistic diversity and on the other, the invention of grammar as a tool for text editing and formal knowledge of the language. Despite the differences, Babel and the library of Alexandria share a mythical nature. These stories contain elements of fiction and reality that often go unnoticed. The article points out these elements and establishes affinities between Babel and the library, so that it should be considered as a narrative cycle. Keywords: Babel, Library of Alexandria, myth, story, grammar, institution, Dionysius Thrax.

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.

The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, and extensive copy number and sequence variability. The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported to date; however, only limited clinical information is available for these probands and the deleted region has not been molecularly mapped. Comprehensive clinical history was obtained for 12 of the 19 individuals described in this study. Common features among these 12 individuals include: cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7). Parental studies were performed for nine of the 19 individuals; the 10p15.3 deletion was de novo in seven of the probands, not maternally inherited in one proband and inherited from an apparently affected mother in one proband. Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 (OMIM 608668) and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted. Although no single gene has been identified which is deleted in all 19 individuals studied, the deleted region in all but one individual includes ZMYND11 and the deleted region in all but one other individual includes DIP2C. There is not a clearly identifiable phenotypic difference between these two individuals and the size of the deleted region does not generally predict clinical features. Little is currently known about these genes complicating a direct genotype/phenotype correlation at this time. These data however, suggest that ZMYND11 and/or DIP2C haploinsufficiency contributes to the clinical features associated with 10p15 deletions in probands described in this study.

Absence of p53 gene mutations in a tumor panel representative of pilocytic astrocytoma diversity using a p53 functional assay.

Although p53-gene mutations occur with significant frequency in diffuse low-grade and high-grade astrocytomas, and are postulated to play an important role in tumorigenesis in these cases, the role of the p53 gene in pilocytic astrocytomas remains unclear. Published data using DNA-based assays for p53-gene analysis in these tumors have shown contradictory results in mutation frequency (0-14%). It is not known whether these heterogeneous results stem from the biological diversity of this tumor group or from technical problems. To re-evaluate p53-gene status in pilocytic tumors, we analyzed 18 tumors chosen to represent the clinical and biological heterogeneity of this tumor type with respect to anatomical location, patient age, gender, ethnic origin (Caucasian or Japanese) and the concomitant occurrence of neurofibromatosis type 1 (NF1). All primary tumors were histologically diagnosed as pilocytic astrocytoma (WHO grade I), except for one anaplastic pilocytic astrocytoma (WHO grade III) which developed in an NF1 patient and recurred as glioblastoma multiforme (WHO grade IV). p53 mutations were detected using an assay in yeast which tests the transcriptional activity of p53 proteins synthesized from tumor mRNA-derived p53-cDNA templates. None of 18 tumors, including 3 NF1-related tumors, showed p53-gene mutations between and including exons 4 and 11. We conclude that p53-gene mutations are extremely rare findings in pilocytic astrocytomas, and are absent even in those exceptional cases in which malignant progression of such tumors has occurred.

Aulas inclusivas y aprendizaje cooperativo

Educación inclusiva y aprendizaje cooperativo son dos conceptos distintos pero estrechamente relacionados: las aulas inclusivas requieren una estructura cooperativa de la actividad, y educar los valores relacionados con la cooperación exige que las aulas sean inclusivas. Pasar de una estructura de la actividad individualista y/o competitiva a una estructura de la actividad cooperativa es un elemento trascendental para hacer posible la inclusión de todo el alumnado en un aula común. Resultado del Proyecto PAC –desarrollado por el Grupo de Investigación sobre Atención a la Diversidad (GRAD) de la Universidad de Vic-, el Programa CA/AC (“Cooperar para Aprender / Aprender a Cooperar”) ofrece al profesorado de educación infantil, primaria y secundaria herramientas para enseñar al alumnado a aprender en equipo. Y a partir del mismo proyecto se ha desarrollado asimismo un proceso de formación/asesoramiento para introducir en las aulas nuevas prácticas docentes basadas en el aprendizaje cooperativo. Un número considerable de centros de distintas zonas de España están siguiendo este proceso y se han recogido una gran cantidad de datos que, debidamente analizados, nos sirvan para confirmar una de las hipótesis del proyecto de investigación que nos ocupa en estos momentos: que el cambio de una estructura individualista o competitiva por otra de tipo cooperativo contribuye a que puedan aprender juntos, en un aula inclusiva, todos los alumnos y las alumnas, sean cuales sean sus necesidades educativas y sus culturas de origen.

Arqueología de paisajes altimontanos pirenaicos: formas de explotación y usos del medio en época romana en valle del Madriu-Perafita-Claror (Andorra) y en la Sierra del Cadí (Alt Urgell)

long-term cultural history of the Madriu-Perafita-Claror valleys (Andorra) and the Cadí Range (Catalonia) has been investigated thanks to the combination of archaeological surveys and excavation, analysis of written sources, multiproxy alaeoenvironment analysis (pollen, NPP, micro and macro charcoal, sedimentology and geochemistry), and digital technologies such as stereophotogrammetry, multispectral imaging, DGPS and GIS. The project has been designed from a landscape archaeology approach and the study area has been selected due to the suitable setting it provides for a meaningful application of the aforementioned techniques. Consequently, archaeological, historical and palaeoenvironmental data have been all treated as cultural proxies. Their comparison has allowed obtaining not only coherent but also complementary results. The project outcomes show an uninterrupted occupation of these high mountain valleys (2000-2600 m a.s.l.) from the Mesolithic until the present. This human occupation shows strong spatial and chronological variability in human practices ranging from a stable long term group occupation in the Late Neolithic to the diversification of representative practices during the Roman period (metallurgy, pine resin exploitation, charcoal production, pastoralism, etc.). This high diversity of activities leads to complex cultural landscapes in the high Pyrenean areas. The reconstruction of the cultural history at the study areas will allow the development of more sustainable politics for these landscapes management.

Asociaciones entre la red social y la discapacidad al comienzo de la vejez en las ciudades de Madrid y Barcelona en 2005

La pérdida de autonomía a edades avanzadas no se asocia únicamente con el envejecimiento sino también con características del entorno físico y social. Investigaciones recientes han demostrado que la red social, la integración social y la participación, actúan como predictores de la discapacidad en la vejez. El objetivo de este trabajo es nalizar el efecto de la red social sobre el nivel de autonomía(en términos de discapacidad instrumental y básica) en etapas iniciales de la vejez.

Conflictos culturales y mediación: el ejemplo de Cataluña

En Cataluña, en los últimos años, ha ido proliferando una serie de «profesionales » que realizan, con más o menos adecuación a la definición teórica de mediador intercultural, dicha función. Concretamente, los mediadores interculturales intervienen en cuestiones como la participación de los padres de origen minoritario en los centros escolares; la adaptación del currículum a la diversidad cultural; la negociación de conflictos «culturales» (la carne de cerdo en el comedor escolar, el uso del pañuelo...); la desescolarización; absentismo y abandono escolar de los alumnos durante el período de la escolarización obligatoria; la traducción lingüística y la interpretación sociocultural, etc. La experiencia adquirida1 nos indica de forma clara cuáles son los problemas que se producen con más frecuencia y las vías de solución que han resultado más eficaces.

Genetic diversity of a brazilian wine grape germplasm collection based on morphoagronomic traits

The objectives of this study were to evaluate the performance of cultivars, to quantify the variability and to estimate the genetic distances of 66 wine grape accessions in the Grape Germplasm Bank of the EMBRAPA Semi-Arid, in Juazeiro, BA, Brazil, through the characterization of discrete and continuous phenotypic variables. Multivariate statistics, such as, principal components, Tocher's optimization procedure, and the graphic of the distance, were efficient in grouping more similar genotypes, according to their phenotypic characteristics. There was no agreement in the formation of groups between continuous and discrete morpho-agronomic traits, when Tocher's optimization procedure was used. Discrete variables allowed the separation of Vitis vinifera and hybrids in different groups. Significant positive correlations were observed between weight, length and width of bunches, and a negative correlation between titratable acidity and TSS/TTA. The major part (84.12%) of the total variation present in the original data was explained by the four principal components. The results revealed little variability between wine grape accessions in the Grape Germplasm Bank of Embrapa Semi-Arid.

Chromosome characterization of two varieties of Mangifera indica L.¹

Chromosome studies were performed in two varieties of Mangifera indica L. (mango), 'IAC-140 Espadona' and in its progenitor 'Espada Stahl'. Both varieties showed 2n=40 chromosomes though the karyotype formulae were 8m + 10sm + 2sm s for 'Stahl' and 7m + 11sm + 2sm s for 'IAC-140'. The varieties showed moderate karyotype asymmetry which was estimated according to four different indices. Both varieties exhibited three chromosome pairs with silver impregnation after NOR-banding. The number of nucleoli within interphase cells varied from one, the commonest, to eight. The nucleolus persistent phenomenon was observed in more than 22% of metaphase cells of both varieties, seeing that in 'Stahl', up to two nucleoli were evidenced. This variety also showed one nucleolus in several anaphase cells. The studies were suitable for evidencing diversity at chromosomal level between these two varieties.

A survey of transposable element classification systems--a call for a fundamental update to meet the challenge of their diversity and complexity.

The increase of publicly available sequencing data has allowed for rapid progress in our understanding of genome composition. As new information becomes available we should constantly be updating and reanalyzing existing and newly acquired data. In this report we focus on transposable elements (TEs) which make up a significant portion of nearly all sequenced genomes. Our ability to accurately identify and classify these sequences is critical to understanding their impact on host genomes. At the same time, as we demonstrate in this report, problems with existing classification schemes have led to significant misunderstandings of the evolution of both TE sequences and their host genomes. In a pioneering publication Finnegan (1989) proposed classifying all TE sequences into two classes based on transposition mechanisms and structural features: the retrotransposons (class I) and the DNA transposons (class II). We have retraced how ideas regarding TE classification and annotation in both prokaryotic and eukaryotic scientific communities have changed over time. This has led us to observe that: (1) a number of TEs have convergent structural features and/or transposition mechanisms that have led to misleading conclusions regarding their classification, (2) the evolution of TEs is similar to that of viruses by having several unrelated origins, (3) there might be at least 8 classes and 12 orders of TEs including 10 novel orders. In an effort to address these classification issues we propose: (1) the outline of a universal TE classification, (2) a set of methods and classification rules that could be used by all scientific communities involved in the study of TEs, and (3) a 5-year schedule for the establishment of an International Committee for Taxonomy of Transposable Elements (ICTTE).

Transcriptome diversity among rice root types during asymbiosis and interaction with arbuscular mycorrhizal fungi.

Root systems consist of different root types (RTs) with distinct developmental and functional characteristics. RTs may be individually reprogrammed in response to their microenvironment to maximize adaptive plasticity. Molecular understanding of such specific remodeling-although crucial for crop improvement-is limited. Here, RT-specific transcriptomes of adult rice crown, large and fine lateral roots were assessed, revealing molecular evidence for functional diversity among individual RTs. Of the three rice RTs, crown roots displayed a significant enrichment of transcripts associated with phytohormones and secondary cell wall (SCW) metabolism, whereas lateral RTs showed a greater accumulation of transcripts related to mineral transport. In nature, arbuscular mycorrhizal (AM) symbiosis represents the default state of most root systems and is known to modify root system architecture. Rice RTs become heterogeneously colonized by AM fungi, with large laterals preferentially entering into the association. However, RT-specific transcriptional responses to AM symbiosis were quantitatively most pronounced for crown roots despite their modest physical engagement in the interaction. Furthermore, colonized crown roots adopted an expression profile more related to mycorrhizal large lateral than to noncolonized crown roots, suggesting a fundamental reprogramming of crown root character. Among these changes, a significant reduction in SCW transcripts was observed that was correlated with an alteration of SCW composition as determined by mass spectrometry. The combined change in SCW, hormone- and transport-related transcript profiles across the RTs indicates a previously overlooked switch of functional relationships among RTs during AM symbiosis, with a potential impact on root system architecture and functioning.