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Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
Neoma, a new genus of Cerambycidae (Coleoptera: Cerambycidae: Prioninae: Macrotomini) is described for Mallodonopsis corrosus Bates, 1879, compared to related genera (Aplagiognathus Thomson, 1861; Archodontes Lameere, 1903; and Mallodonopsis Thomson, 1861), and its tribal position discussed. A lectotype for Mallodonopsis corrosus is here designated with the species redescribed and figured.
Australophanus, new genus, is described and illustrated for Cryptamorpha redtenbacheri (Reitter). Platamus Erichson is synonymized under Telephanus Erichson, new synonymy. Euplatamus Sharp, new status, replaces Platamus Erichson as the genus name. Type species are designated for Aplatamus Grouvelle and Euplatamus Sharp. Telephanus velox (Haldeman) is synonymized under Telephanus atricapillus Erichson. A diagnosis of the tribe Telephanini, a key to the described telephanine genera of the world is presented, and a phylogeny of the family Silvanidae is proposed.
One of the big challenges for nuclear physics today is to understand, starting from first principles, the effective interaction between hadrons with different quark content. First successes have been achieved utilizing techniques to solve the dynamics of quarks and gluons on discrete space-time lattices. Experimentally, the dynamics of the strong interaction have been studied by scattering hadrons off each other. Such scattering experiments are difficult or impossible for unstable hadrons and hence, high quality measurements exist only for hadrons containing up and down quarks. In this work, we demonstrate that measuring correlations in the momentum space between hadron pairs produced in ultrarelativistic proton–proton collisions at the CERN LHC provides a precise method to obtain the missing information on the interaction dynamics between any pair of unstable hadrons. Specifically, we discuss the case of the interaction of baryons containing strange quarks (hyperons). We demonstrate for the first time how, using precision measurements of p–Ω− correlations, the effect of the strong interaction for this hadron–hadron pair can be studied and compared with predictions from lattice calculations.
The genus Paraphloeolaemus Thomas (Coleoptera: Cucujoidea: Laemophloeidae) is described for two new Neotropical species, P. vorticosus Thomas, new species, and P. pterosiagon Thomas, new species. Diagnoses and illustrations are provided.
The following 16 species are transferred from Laemophloeus Dejean (s. l.) to Phloeolaemus Casey: Phloeolaemus anticus (Sharp, 1899: 518) [= Laemophloeus anticus Sharp, 1899], new combination; Phloeolaemus boops (Sharp, 1899: 517) [= Laemophloeus boops Sharp, 1899], new combination; Phloeolaemus castaneipennis (Grouvelle, 1876: 494) [= Laemophloeus castaneipennis Grouvelle, 1876: 494], new combination; Phloeolaemus championi (Sharp, 1899: 516) [= Laemophloeus championi Sharp, 1899], new combination; Phloeolaemus curtus (Grouvelle, 1876: xxxiii) [= Laemophloeus curtus Grouvelle, 1876], new combination; Phloeolaemus endomychus (Sharp, 1899: 519) [= Laemophloeus endomychus Sharp, 1899], new combination; Phloeolaemus hoplites (Sharp, 1899: 517) [= Laemophloeus hoplites Sharp, 1899], new combination; Phloeolaemus ignobilis (Sharp, 1899: 518) [= Laemophloeus ignobilis Sharp, 1899], new combination; Phloeolaemus impressus (Grouvelle, 1876: xxxiii) [= Laemophloeus impressus Grouvelle, 1876], new combination; Phloeolaemus lacerdae (Grouvelle, 1877: 211) [= Laemophloeus lacerdae Grouvelle, 1877], new combination; Phloeolaemus macrocephalus (Schaeffer, 1910: 214) [= Laemophloeus macrocephalus Schaeffer, 1910], new combination; Phloeolaemus punctulaticollis (Hetschko, 1929: 94) [= Laemophloeus punctulaticollis Hetschko, 1929], new combination; Phloeolaemus reitteri (Grouvelle, 1877: 210) [= Laemophloeus reitteri Grouvelle, 1877], new combination; Phloeolaemus semiflavus (Grouvelle, 1876: 497) [= Laemophloeus semiflavus Grouvelle, 1876], new combination; Phloeolaemus sharpi (Hetschko, 1929: 41) [= Laemophloeus sharpi Hetschko, 1929], new combination; Phloeolaemus straminipennis (Reitter, 1876: 47) [= Laemophloeus straminipennis Reitter, 1876], new combination; Phloeolaemus teapensis (Grouvelle, 1876: 494) [= Laemophloeus teapensis Grouvelle, 1876], new combination.
A new species, Chrysobothris cerceripraeda Westcott and Thomas (Coleoptera: Buprestidae), is described from prey specimens found in nests of the ground-nesting wasp, Cerceris fumipennis Say (Hymenoptera: Crabronidae), near Jacksonville, Florida, USA. A listing for all species of Buprestidae taken as prey of the wasp in that state is provided, four of which, including the species described herein, are new. Notes are also given for
four new state records for Buprestidae.
A specimen of Rhizophagus sayi Schaeffer collected in a flight trap at 29°34½'N82°29'W in Alachua County, Florida, on 23-1-1993, by R.W. Lundgren prompted a search of unidentified specimens in the Florida State Collection of Arthropods. The search resulted in the discovery of seven additional Florida specimens with the following data: "FLA., Dixie Co. 3.5mi. N. Old Town 13-1-1980 Coll. M.C. Thomas", 2; "FLORIDA: Alachua Co. Gainesville 3-XII-1983 Coll. M.C. Thomas", 1; "FLORIDA: Alachua Co. San Felasco Hammock 4-11-1983 M.C. Thomasn, 3; same, except date is 12-II-1983. These specimens comprise a new state record for R. sayi, which Bousquet (1990) recorded from most of the eastern United States except for Florida and Georgia.
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
The species of the genus Lathropus Erichson are reviewed for Florida and the West Indies, excluding the Lesser Antilles. Seven species are recorded from this region, three of which are described as new: Lathropus chickcharnie Thomas, new species, Lathropus jamaicensis Thomas, new species, and Lathropus rhabdophloeoides Thomas, new species. A lectotype is designated for Lathropus vernalis Casey, and Lathropus striatus Casey is synonymized under Lathropus vernalis Casey, new synonymy. Illustrations and a key to the species of this geographgic region are provided.
The nine Nearctic species of Laemophloeus Dejean (Coleoptera: Laemophloeidae) are reviewed, keyed, and illustrated. One species, L. apache Thomas, n. sp., is described as new. Two previously described species are synonymized: L. californicus Casey (= L. biguttatus (Say), n. syn.) and L. woodruffi Thomas (= L. fervidus Casey, n. syn.). A neotype is designated for L. biguttatus (Say), and lectotypes are designated for L. terminalis Casey and L. fervidus Casey. A checklist of the described world species is provided.
Five Neotropical species of Laemophloeus Dejean (s. str.) (Coleoptera: Laemophloeidae) with antennal clubs of more than three antennomeres are reviewed: L. buenavista Thomas, n.sp.; L. concinnus Thomas, n.sp.; L. germaini Grouvelle; L. macrognathus Reitter; and L. sexarticulatus Kessel. Diagnoses, descriptions of the new species, illustrations, and a key are provided. Laemophloeus prominens Hetschko, proposed as a replacement name for Laemophloeus notabilis Kessel, is synonymized under L. germaini, new synonymy.
Eleven Neotropical species of Laemophloeus Dejean with antennal clubs composed of three antennomeres are reviewed, diagnosed, and illustrated. Six of the species are described as new: L. capitesculptus Thomas, n. sp., L. corporeflavus Thomas, n. sp., L. dozieri Thomas, n. sp., L. insulatestudinorum Thomas, n. sp., L. planaclavatus Thomas, n. sp., and L. taurus Thomas, n. sp. Four new synonymies are proposed: L. catharinensis Kessel (=L. incisus Sharp), new synonym; L. similans Kessel (=L. incisus Sharp), new synonym; L. distinguendus Sharp (=L. megacephalus Grouvelle), new synonym, and L. chevrolati Grouvelle (=L. lecontei Grouvelle), new synonym. A key to the species is provided.
The New World genus Dysmerus Casey, currently with one valid species, is revised. Lectotypes are designated for two species, Dysmerus caseyi (Grouvelle), new status, and Dysmerus sulcicollis Grouvelle, new status. Both are revived from synonymy with D. basalis Casey. Twelve new species are described: Dysmerus boliviensis Thomas, new species, Dysmerus curvicornis Thomas, new species, Dysmerus genaspinosus Thomas, new species, Dysmerus hamaticornis Thomas, new species, Dysmerus impolitus Thomas, new species, Dysmerus skelleyi Thomas, new species, Dysmerus mexicanus Thomas, new species, Dysmerus monstrosus Thomas, new species, Dysmerus politus Thomas, new species, Dysmerus rondoniensis Thomas, new species, Dysmerus symphilus Thomas, new species, and Dysmerus trinidadensis Thomas, new species. A key to adults of the species and illustrations are provided.
The genus Pediacus Shuckard is revised for America north of Mexico. Seven species are recorded: P. andrewsi Thomas, n. sp.; P. fuscus Erichson; P. gracilis Thomas, n. sp.; P. hesperoglaber Thomas, n. sp.; P. ommatodon Thomas, n. sp.; P. stephani Thomas, n. sp.; and P. subglaber LeConte, new status. The species are described and illustrated, and a key is presented for their identification. The described European and Neotropical species are reviewed and illustrated.