Pictorial Guide to the Groupers (Teleostei: Serranidae) of the Western North Atlantic

This guide was developed to assist with the identification of western North Atlantic grouper species of the genera Alphestes, Cephalopholis, Dermatolepis, Epinephelus, Gonioplectrus, Mycteroperca, and Paranthias. The primary purpose for assembling the guide is for use with projects that deploy underwater video camera systems. The most vital source of information used to develop the guide was an archive of underwater video footage recorded during fishery projects. These video tapes contain 348 hours of survey activity and are maintained at the National Marine Fisheries Service (NMFS), Pascagoula, Mississippi. This footage spans several years (1980-92) and was recorded under a wide variety of conditions depicting diverse habitats from areas of the western North Atlantic Ocean, Caribbean Sea, and Gulf of Mexico. Published references were used as sources of information for those species not recorded on video footage during NMFS projects. These references were also used to augment information collected from video footage to provide broader and more complete descriptions. The pictorial guide presents information for all 25 grouper species reported to occur in the western North Atlantic. Species accounts provide descriptive text and illustrations depicting documented phases for the various groupers. In addition, species separation sheets based on important identification features were constructed to further assist with species identification. A meristic table provides information for specimens captured in conjunction with videoassisted fishery surveys. A computerized version enables guide users to amend, revise, update, or customize the guide as new observations and information become available. (PDF file contains 52 pages.

Notes on the Biology of an Adult Female Chimaera cubana Captured Off St. Croix, U.S. Virgin Islands

Within the western North Atlantic Ocean there are at least 4 genera and 5 species of chimaeroids occurring in deep waters generally associated with outer continental slopes or areas of high bathymetric relief (Didier 2002; Didier 2004). Two chimaeroids, Chimaera cubana and Hydrolagus alberti, are known to be indigenous to the Caribbean Sea in waters associated with the Greater and Lesser Antilles. While H. alberti occurs throughout the Gulf of Mexico and the Caribbean Sea, C. cubana is thought to be endemic to an area bounded by Cuba and Colombia (IUCN 2009). These two chimaeras are readily differentiated by the presence or absence of an anal fin and species–specific branching patterns of cranial lateral line canals (Didier 2004). Since the description of C. cubana by Howell–Rivero (1936), only 10 specimens have been reported in the primary literature with another 11 specimens located in museum collections (Bunkley–Williams and Williams 2004). The dearth of biological information on C. cubana led the International Union for the Conservation of Nature to recommend that “basic data be collected on all captures” (IUCN 2009)

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment