24 research outputs found

    The Sample Analysis at Mars Investigation and Instrument Suite

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    A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression

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    Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. Through genetic fine mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the putative causal variant. Epigenomic data from human tissue revealed an enhancer signature at rs9349379 exclusively in aorta, suggesting a regulatory function for this SNP in the vasculature. CRISPR-edited stem cell-derived endothelial cells demonstrate rs9349379 regulates expression of endothelin 1 (EDN1), a gene located 600 kb upstream of PHACTR1. The known physiologic effects of EDN1 on the vasculature may explain the pattern of risk for the five associated diseases. Overall, these data illustrate the integration of genetic, phenotypic, and epigenetic analysis to identify the biologic mechanism by which a common, non-coding variant can distally regulate a gene and contribute to the pathogenesis of multiple vascular diseases

    Systematics and phylogeny of the Neotropical treehopper subfamily Nicomiinae (Hemiptera, Membracidae) SistemĂĄtica e filogenia das cigarrinhas neotropicais da subfamĂ­lia Nicomiinae (Hemiptera, Membracidae)

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    Morphological characters of adults of the treehopper subfamily Nicomiinae Haupt, 1929 (Hemiptera, Membracidae) including seven genera (Eudonica gen. nov.; Euwalkeria Goding, 1926; Holdgatiella Evans, 1962; Nicomia StĂ„l, 1858; Nodonica Dietrich, McKamey& Deitz, 2001; Stalomia gen. nov.; and Tolania StĂ„l, 1858) and 22 species (16 new) are described and illustrated. Keys are provided for genera and for species of Euwalkeria, Holdgatiella, and Nicomia. Nomenclatural changes, based on study of the primary type material of 15 species, include three new combinations, one new synonymy, and reinstatement of one junior synonym. Eudonica has one species, Eudonica nanella sp. nov.; Euwalkeria has five species, including four new species: E. colorata sp. nov., E. distincta sp. nov., E. perdita sp. nov., E. rubrica sp. nov.; Holdgatiella has two species, one of which is described as new: Holdgatiella chiloensis sp. nov.; Nicomia has twelve species, nine of which are described as new: N. buccina sp. nov., N. harenosa sp. nov., N. inscripta sp. nov., N. jucunda sp. nov., N. monticola sp. nov., N. nigrifasciata sp. nov., N. notidana sp. nov., N. pulchella sp. nov., N. serrata sp. nov.; Nodonica has one species, Nodonica bispinigera Dietrich, McKamey & Deitz; and Stalomia has one species, Stalomia veruta sp. nov. Tolania contains eleven previously described species and nearly 60 new species, which will be treated in a later publication. Three new combinations are proposed: one species described in Nicomia is placed in the tribe Abelini (Centrotinae) as Abelus retrospinosus (Lethierry) comb. nov.; one species previously placed in Nicomia is transferred to the genus Tolania as T. obliqua (Walker, 1858), comb. nov.; one species described in Holdgatiella is placed in the genus Tolania as T. stria (Cryan & Deitz, 2002), comb. nov. One new synonymy is proposed: Hoplophera [sic] cicadoides Walker, 1862, syn. nov., a junior synonym of Nicomia interrupta StĂ„l, 1858. Nicomia subfasciata StĂ„l, 1858, is reinstated. The results of a phylogenetic analysis based on morphology are presented, illustrating the hypothesized relationships among species and genera of Nicomiinae. The analysis supports the broader concept of Nicomiinae proposed here. The monophyly of this group is supported by eleven characters, and all of the included genera are also monophyletic.<br>Caracteres morfolĂłgicos dos adultos das cigarrinhas da subfamĂ­lia Nicomiinae Haupt, 1929 incluindo sete gĂȘneros (Eudonica gen. nov.; Euwalkeria Goding, 1926; Holdgatiella Evans, 1962; Nicomia StĂ„l, 1858; Nodonica Dietrich, McKamey& Deitz, 2001; Stalomia gen. nov. e Tolania StĂ„l, 1858), e 22 espĂ©cies (16 espĂ©cies novas) sĂŁo descritos e ilustrados. Chaves taxĂŽnomicas para identificação de gĂȘneros e espĂ©cies de Euwalkeria, Holdgatiella e Nicomia sĂŁo fornecidas. Mudanças nomenclaturais, baseadas no estudo de material-tipo primĂĄrio de 15 espĂ©cies, incluem trĂȘs combinaçÔes novas, uma nova sinonĂ­mia e revalidação de um sinĂŽnimo-jĂșnior. Eudonica inclui uma espĂ©cie nova, Eudonica nanella sp. nov.; Euwalkeria inclui cinco espĂ©cies, sendo quatro novas: E. colorata sp. nov., E. distincta sp. nov., E. perdita sp. nov. e E. rubrica sp. nov.; Holdgatiella inclui duas espĂ©cies, sendo uma nova: Holdgatiella chiloensis sp. nov.; Nicomia inclui 12 espĂ©cies, sendo nove novas: N. buccina sp. nov., N. harenosa sp. nov., N. inscripta sp. nov., N. jucunda sp. nov., N. monticola sp. nov., N. nigrifasciata sp. nov., N. notidana sp. nov., N. pulchella sp. nov. e N. serrata sp. nov.; Nodonica inclui uma espĂ©cie, Nodonica bispinigera Dietrich, McKamey & Deitz e Stalomia inclui uma espĂ©cie nova, Stalomia veruta sp. nov. Tolania inclui 11 espĂ©cies previamente descritas e aproximadamente 60 espĂ©cies novas, as quais serĂŁo tratadas posteriormente em outra publicação. TrĂȘs combinaçÔes novas sĂŁo propostas: Abelus retrospinosus (Lethierry) comb. nov., previamente em Nicomia, Ă© transferida para a tribo Abelini (Centrotinae); Tolania obliqua (Walker, 1858) comb. nov., previamente em Nicomia; e Tolania stria (Cryan & Deitz, 2002) comb. nov., previamente em Holdgatiella. Uma nova sinonĂ­mia Ă© proposta: Hoplophera [sic] cicadoides Walker, 1862 Ă© considerada um sinĂŽnimo junior de Nicomia interrupta StĂ„l, 1858. A espĂ©cie Nicomia subfasciata StĂ„l, 1858 Ă© revalidada. Os resultados de uma anĂĄlise filogenĂ©tica baseada em caracteres morfolĂłgicos sĂŁo apresentados, ilustrando as possĂ­veis relaçÔes entre gĂȘneros e espĂ©cies de Nicomiinae. A anĂĄlise suporta o conceito proposto mais amplo de Nicomiinae. O monofiletismo da subfamĂ­lia Ă© suportado por 11 caracteres e todos os gĂȘneros incluĂ­dos sĂŁo tambĂ©m recuperados como monofilĂ©ticos
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