Genetic analysis of 17 Y-STRs in a Mestizo population from the Central Valley of Mexico

This study aims to portray the complex diversity of the Mexican Mestizo population, which represents 98.8% of the entire population of Mexico. We compiled extended haplotype data of the Y chromosome from populations in the Central Valley of Mexico (CVM), which were compared to other Mestizo and parental (Amerindian, European and African) populations. A complex ancestral relationship was found in the CVM population, suggesting cosmopolitan origins. Nevertheless, the most preeminent lineages point towards a European ancestry, where the R1b was the most frequent. In addition, important frequencies of Amerindian linages were also found in the Mestizo sample studied. Interestingly, the Amerindian ancestry showed a remarkable substructure, which was represented by the two main founding lineages: QL54 (x M3) and M3. However, even within each lineage a high diversity was found despite the small number of samples bearers of these lineages. Further, we detected important genetic differences between the CVM populations and the Mexican Mestizo populations from the north and south. This result points to the fact that Mestizo populations present different ancestral proportions, which are related to the demographic events that gave origin to each population. Finally, we provide additional forensic statistical parameters that are useful in the interpretation of genetic analysis where autosomal loci are limited. Our findings illustrate the complex genetic background of the Mexican Mestizo population and reinforce the need to encompass more geographic regions to generate more robust data for forensic applications

Controlled transdermal release of antioxidant ferulate by a porous Sc(III) MOF

The Sc(III) MOF-type MFM-300(Sc) is demonstrated in this study to be stable under physiological conditions (PBS), biocompatible (to human skin cells), and an efficient drug carrier for the long-term controlled release (through human skin) of antioxidant ferulate. MFM-300(Sc) also preserves the antioxidant pharmacological effects of ferulate while enhancing the bio-preservation of dermal skin fibroblasts, during the delivery process. These discoveries pave the way toward the extended use of Sc(III)-based MOFs as drug delivery systems (DDSs)

Similaridad del nicho ecológico de Pinus montezumae y P. pseudostrobus (Pinaceae) en México: implicaciones para la selección de áreas productoras de semillas y de conservación

Background and Aims: Ecological niche models have been used to understand how species can change or persist in an environmental and geographical space over time. The aims of the study were i) to model the ecological niche of Pinus montezumae and Pinus pseudostrobus in Mexico, ii) to evaluate and compare the similarity and equivalence of niche suitability between the distribution areas of both species, and iii) to propose potential geographic zones for the delimitation of seed-producing and conservation areas for each species.Methods: We used geographical data on distribution of species and climatic, topographic, elevation and soil data as environmental predictors, which were modeled based on the Maximum Entropy algorithm. The parameters of similarity (I) and equivalence (D) were estimated to know the degree of overlap of the niche of the species. For the selection of seed areas, environmental data were used that defined the distribution of each species and dasometrics of the National Forest and Soil Inventory (INFyS).Key results: The models show that the two species have similar areas of high suitability, distributed in the Trans-Mexican Volcanic Belt and the Sierra Madre del Sur. The highest contribution to the models for Pinus pseudostrobus were the variables average annual temperature (41.3%) and total annual rainfall (14.3%), whereas the soil (31.1%) and altitude (29%) were determinants in P. montezumae. The niche overlap analysis indicates that the observed value of equivalence (D=0.430) is less than the similarity value (I=0.610), suggesting that the species have a similar niche but that this is not equivalent, which could be in the process of diversification.Conclusions: The suitability of the ecological niche is similar for the two pine species, but it is not equivalent as they present differential environmental variables. These results have implications for the selection of potential areas for seed production and conservation of each species.Antecedentes y Objetivos: Los modelos de nicho ecológico se han usado para entender de qué manera las especies pueden cambiar o persistir en un espacio ambiental y geográfico a lo largo del tiempo. Los objetivos del presente estudio fueron i) modelar el nicho ecológico de P. montezumae y P. pseudostrobus en México, ii) evaluar y comparar la similaridad y equivalencia de la idoneidad del nicho entre las áreas de distribución de las dos especies, y iii) proponer zonas geográficas potenciales para la delimitación de áreas productoras de semillas y conservación para cada especie.Métodos: Se usaron datos geográficos para predecir la distribución de especies y climáticos topográficos y edáficos como predictores ambientales, fueron modelados con base en el algoritmo de Máxima Entropía. Se estimaron parámetros de similaridad (I) y equivalencia (D) para conocer el grado de traslape del nicho. Para la selección de áreas semilleras se usaron los datos ambientales que definieron la distribución de cada especie y dasométricos del Inventario Nacional Forestal y de Suelos (INFyS).Resultados clave: Los modelos muestran que las dos especies presentan zonas muy similares de alta idoneidad, distribuidas en la Faja Volcánica Transmexicana y en la Sierra Madre del Sur. Las mayores contribuciones al modelo de Pinus pseudostrobus fueron las variables temperatura promedio anual (41.3%) y precipitación total anual (14.3%), mientras que el suelo (31.1%) y la altitud (29%) fueron determinantes para el modelo de P. montezumae. El traslape de nicho presenta un valor observado de equivalencia (D=0.430) menor al de similaridad (I=0.610), sugiriendo que las especies tienen un nicho similar, pero que este no es equivalente en su totalidad, el cual podría estar en proceso de diversificación.Conclusiones: La idoneidad del nicho ecológico es similar para las dos especies de pino, pero no es equivalente al presentar variables ambientales diferenciales. Estos resultados tienen implicaciones para la selección potencial de áreas productoras de semillas y conservación para cada especie

The need for establishing a universal CTG sizing method in myotonic dystrophy type 1

The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers sets—1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1. Our results indicated variability between the methods (although we found no overall differences between long PCR 1 and 2 and SP-PCR, respectively). While keeping in mind the limited sample size of our patient cohort, SP-PCR appeared as the most suitable technique, with an inverse significant correlation found between CTG expansion size of the progenitor allele, as determined by this method, and age of disease onset (r = −0.734, p = 0.016). Yet, in light of the variability of the results obtained with the different methods, we propose that an international agreement is needed to determine which is the most suitable method for assessing CTG expansion size in DM1

The Completed SDSS-IV extended Baryon Oscillation Spectroscopic Survey : pairwise-inverse probability and angular correction for fibre collisions in clustering measurements

HJS is supported by the U.S. Department of Energy, Office of Science, Office of High Energy Physics under Award Number DE-SC0014329. Funding for the Sloan Digital Sky Survey IV has been provided by the Alfred P. Sloan Foundation, the U.S. Department of Energy Office of Science, and the Participating Institutions. SDSS-IV acknowledges support and resources from the Center for High-Performance Computing at the University of Utah. This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No 693024).The completed extended Baryon Oscillation Spectroscopic Survey (eBOSS) catalogues contain redshifts of 344 080 quasars at 0.8 < z < 2.2, 174 816 luminous red galaxies between 0.6 < z < 1.0, and 173 736 emission-line galaxies over 0.6 < z < 1.1 in order to constrain the expansion history of the Universe and the growth rate of structure through clustering measurements. Mechanical limitations of the fibre-fed spectrograph on the Sloan telescope prevent two fibres being placed closer than 62 arcsec in a single pass of the instrument. These ‘fibre collisions’ strongly correlate with the intrinsic clustering of targets and can bias measurements of the two-point correlation function resulting in a systematic error on the inferred values of the cosmological parameters. We combine the new techniques of pairwise-inverse probability and the angular upweighting (PIP+ANG) to correct the clustering measurements for the effect of fibre collisions. Using mock catalogues, we show that our corrections provide unbiased measurements, within data precision, of both the projected wp(rp) and the redshift-space multipole ξ(ℓ = 0, 2, 4)(s) correlation functions down to 0.1h−1Mpc⁠, regardless of the tracer type. We apply the corrections to the eBOSS DR16 catalogues. We find that, on scales s≳20h−1Mpcs≳20h−1Mpc for ξℓ, as used to make baryon acoustic oscillation and large-scale redshift-space distortion measurements, approximate methods such as nearest-neighbour upweighting are sufficiently accurate given the statistical errors of the data. Using the PIP method, for the first time for a spectroscopic program of the Sloan Digital Sky Survey, we are able to successfully access the one-halo term in the clustering measurements down to ∼0.1h−1Mpc scales. Our results will therefore allow studies that use the small-scale clustering to strengthen the constraints on both cosmological parameters and the halo occupation distribution models.Publisher PDFPeer reviewe

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected

The SDSS-IV extended Baryon Oscillation Spectroscopic Survey : baryon acoustic oscillations at redshift of 0.72 with the DR14 luminous red galaxy sample

The extended Baryon Oscillation Spectroscopic Survey (eBOSS) Data Release 14 sample includes 80,118 luminous red galaxies (LRGs). By combining these galaxies with the high-redshift tail of the BOSS galaxy sample, we form a sample of LRGs at an effective redshift z = 0.72, covering an effective volume of 0.9 Gpc3. We account for spurious fluctuations caused by targeting and by redshift failures, which were validated on a set of mock catalogs. This analysis is sufficient to provide a 2.5% measurement of spherically averaged baryon acoustic oscillations (BAO), DV(z=0.72) = 2377^{+61}_{-59} (rd/rd,fid) Mpc, at 2.8σ of significance. Together with the recent quasar-based BAO measurement at z = 1.5 and forthcoming emission line galaxy–based measurements, this measurement demonstrates that eBOSS is fulfilling its remit of extending the range of redshifts covered by such measurements, laying the groundwork for forthcoming surveys such as the Dark Energy Spectroscopic Survey and Euclid.Publisher PDFPeer reviewe