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Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Lasioglossum is a large genus of halictid bees with high species diversity in morphologically rather cryptic species groups. With more than 1900 described species, the taxonomy of the genus is complex and largely unresolved in many regions. For practical reasons, systematic reviews are restricted in scope either geographically or to particular species groups. In this study we focus on the subgenus Dialictus of the genus Lasioglossum from the Yucatán Peninsula in Mexico. In previous studies we identified members of the genus as important pollinators of cash crops in the region, and genetic analyses suggested the existence of seven molecular taxonomic units (mOTU). Based on additional morphological differences, we here describe these mOTUs as novel species, Lasioglossum (Dialictus) yucatanense Landaverde-González sp. nov., L. (D.) paxtoni Landaverde-González sp. nov., L. (D.) ameshoferi Landaverde-González sp. nov., L. (D.) aureoviride Landaverde-González & Husemann sp. nov., L. (D.) paralepidii Gardner sp. nov., L. (D.) milpa Landaverde-González sp. nov. and L. (D.) nanotegula Landaverde-González & Husemann sp. nov., and provide keys and images to assist in their identification.
We treat 50 species of Pseudococcus Westwood (Hemiptera: Pseudococcidae) found in Central and South America. Sixteen new species are described and illustrated: Pseudococcus acaena Granara de Willink n. sp., P. bahiensis Granara de Willink n. sp., P. calchaquii Granara de Willink n. sp., P. chaquensis Granara de Willink n. sp., P. colombiensis Granara de Willink n. sp., P. cubaensis Granara de Willink n. sp., P. cuyoensis Granara de Willink n. sp., P. debilis Granara de Willink n. sp., P. dumetum Granara de Willink n. sp., P. insuetus Granara de Willink n. sp., P. lanatii Granara de Willink, n. sp., P. neuquenensis Granara de Willink n. sp., P. occultus Granara de Willink n. sp., P. panamaensis Granara de Willink n. sp., P. salazari Granara de Willink n. sp. and P. scatoterrae Granara de Willink n. sp. The new species are distributed in Argentina (9 spp.), Colombia (3 spp.), Brazil (2), Uruguay (2), Cuba (1), Panama (1) and Peru (1). Diagnostic characters and illustrations of 34 additional species are provided: Pseudococcus agavis McGregor, P. apomicrocirculus Gimpel and Miller, P. calceolariae (Maskell), P. comstocki (Kuwana), P. cribata González, P. cryptus Hempel, P. donrileyi Gimpel and Miller, P. elisae Borchsenius, P. eriocereus Williams, P. espeletiae Williams and Granara de Willink, P. galapagoensis Morrison, P. importatus McKenzie, P. insularis Morrison, P. jackbeardsleyi Gimpel and Miller, P. landoi (Balachowsky), P. longispinus (Targioni Tozzetti), P. mandio Williams, P. maritimus (Ehrhorn), P. meridionalis Prado, P. microcirculus McKenzie, P. nakaharai Gimpel and Miller, P. neomicrocirculus Gimpel and Miller, P. odermatti Miller and Williams, P. pabulum Granara de Willink, P. peregrinabundus Borchsenius, P. puertoricensis Gimpel and Miller, P. rosangelae Pacheco da Silva and Kaydan, P. saccharicola Takahashi, P. schusteri Gimpel and Miller, P. spanocera Gimpel and Miller, P. sociabilis Hambleton, P. solenedyos Gimpel and Miller, P. sorghiellus (Forbes) and P. viburni (Signoret). Five species from Argentina, two species from Jamaica and one species from Suriname are cited for the first time. Sixty-three figures, corresponding to the known species, their variations and new species cited for the region are included. A list of host plants containing 77 plant families and 355 species is included. An updated list of host plants and the distribution of some species of the genus is provided.
The Asterolecaniidae (Hemiptera: Coccomorpha), known as pit scales, are currently represented by 11 genera and 52 species in the Neotropical region, and by five species in Argentina. The goal of this study is to review and update the information currently known about the biodiversity of Asterolecaniidae in Argentina. We describe Argenta Granara de Willink new genus, Argenta eduardoi Granara de Willink new species, Mycetococcus ligae Granara de Willink new species, and Sclerosococcus williamsi Granara de Willink new species; an illustration of Pollinia pollini (Costa) is also included; the species Asterolecanium puteanum Russell and Russellaspis pustulans (Cockerell) are noted for the first time in Argentina. Dichotomous keys to the genera of Asterolecaniidae and the species of Asterolecanium Targioni-Tozzetti, Mycetococcus Ferris, and Sclerosococcus McKenzie in Argentina are presented. This work increases the number of known species in Argentina to ten.
ZooBank registration. urn:lsid:zoobank.org:pub:2A1FB016-1B67-4861-BB8B-2011B26679F1
Se describen e ilustran las hembras adultas de dos especies nuevas de Acanthococcus Signoret (Hemiptera: Coccoidea: Eriococcidae), Acanthococcus julietae González y Granara de Willink sp. nov. y A. saltensis González y Granara de Willink sp. nov. y los estados ninfales de la última. Se presenta una clave para separar las especies de Eriococcidae reportados sobre Asteraceae de la Argentina.
Golgi phosphoprotein 3 (GOLPH3) is a conserved protein of the Golgi apparatus that in humans has been implicated in tumorigenesis. However, the precise function of GOLPH3 in malignant transformation is still unknown. Nevertheless, clinicopathological data shows that in more than a dozen kinds of cancer, including gliomas, GOLPH3 could be found overexpressed, which correlates with poor prognosis. Experimental data shows that overexpression of GOLPH3 leads to transformation of primary cells and to tumor growth enhancement. Conversely, the knocking down of GOLPH3 in GOLPH3-overexpressing tumor cells reduces tumorigenic features, such as cell proliferation and cell migration and invasion. The cumulative evidence indicate that GOLPH3 is an oncoprotein that promotes tumorigenicity by a mechanism that impact at different levels in different types of cells, including the sorting of Golgi glycosyltransferases, signaling pathways, and the actin cytoskeleton. How GOLPH3 connects mechanistically these processes has not been determined yet. Further studies are important to have a more complete understanding of the role of GOLPH3 as oncoprotein. Given the genetic diversity in cancer, a still outstanding aspect is how in this inherent heterogeneity GOLPH3 could possibly exert its oncogenic function. We have aimed to evaluate the contribution of GOLPH3 overexpression in the malignant phenotype of different types of tumor cells. Here, we analyzed the effect on cell migration that resulted from stable, RNAi-mediated knocking down of GOLPH3 in T98G cells of glioblastoma multiforme, a human glioma cell line with unique features. We found that the reduction of GOLPH3 levels produced dramatic changes in cell morphology, involving rearrangements of the actin cytoskeleton and reduction in the number and dynamics of focal adhesions. These effects correlated with decreased cell migration and invasion due to affected persistence and directionality of cell motility. Moreover, the knocking down of GOLPH3 also caused a reduction in autoactivation of focal adhesion kinase (FAK), a cytoplasmic tyrosine kinase that regulates focal adhesions. Our data support a model in which GOLPH3 in T98G cells promotes cell migration by stimulating the activity of FAK.