NMDA receptor gene variations as modifiers in Huntington disease: a replication study.

Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD

A pre-Caloris synchronous rotation for Mercury

The planet Mercury is locked in a spin-orbit resonance where it rotates three times about its spin axis for every two orbits about the Sun. The current explanation for this unique state assumes that the initial rotation of this planet was prograde and rapid, and that tidal torques decelerated the planetary spin to this resonance. When core-mantle boundary friction is accounted for, capture into the 3/2 resonance occurs with a 26% probability, but the most probable outcome is capture into one of the higher-order resonances. Here we show that if the initial rotation of Mercury were retrograde, this planet would be captured into synchronous rotation with a 68% probability. Strong spatial variations of the impact cratering rate would have existed at this time, and these are shown to be consistent with the distribution of pre-Calorian impact basins observed by Mariner 10 and MESSENGER. Escape from this highly stable resonance is made possible by the momentum imparted by large basin-forming impact events, and capture into the 3/2 resonance occurs subsequently under favourable conditions.Comment: Nature Geosci., 201

Inselect: Automating the Digitization of Natural History Collections

Copyright: © 2015 Hudson et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. The attached file is the published version of the article

Size-associated Variation and Factors Affecting the Morphology of Brown Bodies in Glycera tridactyla (Polychaeta:Glyceridae)

Size-associated variations in brown body morphology (size and shape) were studied from the individuals of Glycera tridactyla. Variables related to size, length (BL) and width (BW) of the brown bodies were measured. On the basis of these measurements, other variables such as the surface area (SA), volume (V), surface area/volume ratio (SA/V) and elongation degree (ED) were calculated. Brown body shape was quantified by the elongation degree. The immature brown bodies were significantly smaller than the mature bodies, and therefore the smaller bodies had a higher SA/V. Results obtained from the regression analysis showed that there was a significant relationship between all the variables with the exception of SA/V:BW for the immature bodies and ED: BL for both groups of the bodies. The body size (proboscis length) of the worm and the sampling time (months) were the affecting factors on size and shape of the brown body. Brown bodies tend to be elongated as the proboscis length increased. The variation in size and/or shape of the brown bodies could refer to an adaptation to the movement along the coelomic fluid

Current and potential geographical distribution of Platymeris biguttatus (Linnaeus, 1767) with description of nymphs

Background: The description of Platymeris biguttatus (Linnaeus 1767) nymphal instars as well as the prediction of the potentially suitable ecological niche was the main goal of this study. Our research was based on 258 specimens of P. biguttatus species of museum collections. A set of 23 environmental predictor variables covering Africa was used at ecological niche modeling - a method performed using the Maxent software to prepare potential distribution maps for this species. Results: The results suggested the most suitable areas seen as potentially suitable ecological niche for P. biguttatus in Africa. A jackknife test showed that temperature seasonality and percentage of tree cover were among the most important environmental variables affecting the distribution of the species. The analysis of climate preferences shows that most of the potentially suitable niches for this species were located in the area of tropical savanna climate, with a small participation of tree vegetation. Conclusions: P. biguttatus was only known to be widely distributed in the tropical part of continental Africa. Thanks to the ecological niche modeling methods and the museum data on the occurrence of the species, we introduced new information about potentially suitable ecological niches and the possible range of distribution

First GIS analysis of modern stone tools used by wild chimpanzees (Pan troglodytes verus) in Bossou, Guinea, West Africa

Stone tool use by wild chimpanzees of West Africa offers a unique opportunity to explore the evolutionary roots of technology during human evolution. However, detailed analyses of chimpanzee stone artifacts are still lacking, thus precluding a comparison with the earliest archaeological record. This paper presents the first systematic study of stone tools used by wild chimpanzees to crack open nuts in Bossou (Guinea-Conakry), and applies pioneering analytical techniques to such artifacts. Automatic morphometric GIS classification enabled to create maps of use wear over the stone tools (anvils, hammers, and hammers/anvils), which were blind tested with GIS spatial analysis of damage patterns identified visually. Our analysis shows that chimpanzee stone tool use wear can be systematized and specific damage patterns discerned, allowing to discriminate between active and passive pounders in lithic assemblages. In summary, our results demonstrate the heuristic potential of combined suites of GIS techniques for the analysis of battered artifacts, and have enabled creating a referential framework of analysis in which wild chimpanzee battered tools can for the first time be directly compared to the early archaeological record.Leverhulme Trust [IN-052]; MEXT [20002001, 24000001]; JSPS-U04-PWS; FCT-Portugal [SFRH/BD/36169/2007]; Wenner-Gren Foundation for Anthropological Researc

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy

Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments. Certain DMD gene mutations in high-risk, the so-called hot spot areas can be particularly helpful in modeling molecular therapies. Identification of specific mutations has been greatly enhanced by new genomic methods. Whole genome, next generation sequencing (WGS) has been recently used to define DMD patient mutations, but has not been used in dystrophic dogs. A dystrophin-deficient Cavalier King Charles Spaniel (CKCS) dog was evaluated at the functional, histopathological, biochemical, and molecular level. The affected dog’s phenotype was compared to the previously reported canine dystrophinopathies. WGS was then used to detect a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA), predicting a frameshift in gene transcription and truncation of dystrophin protein translation. The deletion was confirmed with conventional PCR and Sanger sequencing. This mutation is in a secondary DMD gene hotspot area distinct from the one identified earlier at the 5′ donor splice site of intron 50 in the CKCS breed. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00335-016-9675-2) contains supplementary material, which is available to authorized users

Geographical variation in morphology of Chaetosiphella stipae stipae Hille Ris Lambers, 1947 (Hemiptera: Aphididae: Chaitophorinae)

Chaetosiphella stipae stipae is a xerothermophilous aphid, associated with Palaearctic temperate steppe zones or dry mountain valleys, where there are grasses from the genus Stipa. Its geographical distribution shows several populations that are spread from Spain, across Europe and Asia Minor, to Mongolia and China. Geographical variation in chaetotaxy and other morphological features were the basis to consider whether individuals from different populations are still the same species. Moreover, using Ch. stipae stipae and Stipa species occurrences, as well as climatic variables, we predict potential geographical distributions of the aphid and its steppe habitat. Additionally, for Stipa species we projected current climatic conditions under four climate change scenarios for 2050 and 2070. While highly variable, our results of morphometric analysis demonstrates that all Ch. stipae stipae populations are one very variable subspecies. And in view of predicted climate change, we expect reduction of Stipa grasslands. The disappearance of these ecosystems could result in stronger separation of the East-European and Asian steppes as well as European ‘warm-stage’ refuges. Therefore, the geographic morphological variability that we see today in the aphid subspecies Ch. stipae stipae may in the future lead to speciation and creation of separate subspecies or species

Super-Genotype: Global Monoclonality Defies the Odds of Nature

The ability to respond to natural selection under novel conditions is critical for the establishment and persistence of introduced alien species and their ability to become invasive. Here we correlated neutral and quantitative genetic diversity of the weed Pennisetum setaceum Forsk. Chiov. (Poaceae) with differing global (North American and African) patterns of invasiveness and compared this diversity to native range populations. Numerous molecular markers indicate complete monoclonality within and among all of these areas (FST = 0.0) and is supported by extreme low quantitative trait variance (QST = 0.00065–0.00952). The results support the general-purpose-genotype hypothesis that can tolerate all environmental variation. However, a single global genotype and widespread invasiveness under numerous environmental conditions suggests a super-genotype. The super-genotype described here likely evolved high levels of plasticity in response to fluctuating environmental conditions during the Early to Mid Holocene. During the Late Holocene, when environmental conditions were predominantly constant but extremely inclement, strong selection resulted in only a few surviving genotypes