Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3–5 years) than typically expected for aging dogs (8–10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09×10−13). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS–guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.
A limited range CT from the bottom of T10 to the top of the pubic symphysis is as accurate as full abdominopelvic CT in evaluating patients with suspected acute appendicitis and results in approximately 23% dose reduction.
The dog is an attractive model for genetic studies of complex disease. With drafts of the canine genome complete, a large number of single-nucleotide polymorphisms (SNPs) that are potentially useful for gene-mapping studies and empirical estimations of canine diversity and linkage disequilibrium (LD) are now available. Unfortunately, most canine SNPs remain uncharacterized, and the amount and quality of DNA available from population-based samples are limited. We assessed how these real-world challenges influence automated SNP genotyping methods such as Illumina's GoldenGate assay. We examined 384 SNPs on canine chromosome 9 and successfully genotyped a minimum of 217 and a maximum of 275 SNPs using buccal swab samples for 181 dogs (86 beagles, 76 border collies, and 15 Australian shepherds). Call rates per SNP and sample averaged 97%, with reproducibility within and between analyses averaging 98%. The majority of these SNPs were polymorphic across all 3 breeds. We observed extensive LD, albeit less than reported for surveys using fewer dogs, consistent between breeds. Analyses of population substructure indicated that beagles are distinct from border collies and Australian shepherds. These results demonstrate the suitability of amplified canine buccal samples for high-throughput multiplex genotyping and confirm extensive LD in the dog.
For the past few years, people everywhere have been "going Paleo." Websites and social media touting the benefits of eating a "Paleo diet" and following a "Paleolithic life style" serve as calls to arms for health-conscious individuals seeking information about the latest health and fitness trends. Many of these people participate in programs such as Crossfit, which involve major social and life-style modification components and therefore facilitate the dissemination of dietary fads. The PALEOf(x) conference, which bills itself as "the world's premier holistic wellness event," has attracted sellout crowds of thousands of attendees for the last four years. Consumers can wear Paleo clothing, download Paleo shopping and exercise apps to their smartphones, order prepackaged Paleo food, prepare it using Paleo cooking implements, or expediently buy Paleo convenience foods from Paleodiet™ vending machines and "Cultured Caveman" food trucks. The Paleo diet is touted by movie stars, reality TV personalities, and professional athletes, including LeBron James and the entire Miami Dolphins NFL team. Books with titles such as The Primal Blueprint, Cavewomen Don't Get Fat, and Paleo Perfected (the latter by the stodgy America's Test Kitchen) are legion, and many are bestsellers.
Using the recent discovery of the Hohle Fels figurine as a catalyst, in this article we briefly review the history of scholarship regarding Upper Paleolithic figurines that are often referred to as "Venus" figurines.We integrate this review with a critical examination of the assumptions underlying the "Venus hypothesis"-the perspective that these artifacts are best understood as sexual objects-based on the available data from both inside and outside of the field of Paleolithic archaeology. We suggest that interpreting the figurines in a purely sexual context obstructs their objective, scientific study and has unintended social consequences. Following from this, we consider why the Venus hypothesis persists in the popular media and scholarly research despite decades of reflexive critiques. Finally, building on these critiques, we argue for the importance of contextualization in the study of Upper Paleolithic figurines and discuss new approaches to their study. [Upper Paleolithic, figurines, pop culture, media, science] RÉSUMÉ Utilisant la dècouverte rècente de la figurine de Hohle Fels comme catalyste, le prèsent article passe en revue brièvement l'histoire de la recherche concernant les figurines du Paléolithique supérieur auxquelles on référe le plus fréquemment par le terme de figurine "Vénus". La revue comporte un examen critique des présuppositions sous-jacentesà "l'hypothèse de Vénus", notamment qu'il s'agit de faç on plausible d'objets sexuels, s'appuyant sur les données disponibles, dans le cadre médiatique populaire en deçà ainsi qu'à l'intérieur du domaine de la recherche sur le Paléolithique. Nous suggérons que toutes interprétations dans un contexte exclusivement sexuel masque une démarche scientifique objective comportant des répercussions sociales imprévues. Poursuivant ce raisonnement, nous abordons les causes d'une telle persistence de l'hypothèse Vénus dans le monde médiatique ainsi que dans la recherché erudite, malgré des décennies de réflection critique. Finalement, nous fondant sur ces critiques, nous soutenons l'importance de replacer l'étude des figurines du Paléolithique supérieur dans leur cadre contextuel et discutons de nouvelles démarches pour leurétude. [Paléolithque supérieur, statuettes féminines, culture populaire, médias, science] RESUMEN Usando el reciente descubrimiento de la estatuilla Hohle Fels como un catalizador, en este artículo brevemente revisamos la historia del cuerpo de conocimientos sobre las estatuillas del Paleolítico Superior que a menudo se refieren como las figuras de "Venus". Integramos esta revisión con una examinación crítica de las asunciones subyacentes de la "hipótesis de Venus"-la perspectiva que estos artefactos se entienden mejor como objetos sexuales-basados en la información disponible tanto de dentro como fuera del campo de la arqueología paleolítica. Sugerimos que interpretando las estatuillas en un contexto puramente sexual obstruye su estudio objetivo, científico y tiene consecuencias sociales imprevistas. Siguiendo esto, consideramos por qué ...
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