Distribution of Brechmorhoga clubskimmers (Odonata: Libellulidae) in the Grand Canyon region, southwestern USA

We examined the distribution of Brechmorhoga mendax and B. pertinax (Libellulidae) in northern Arizona and southern Nevada. Brechmorhoga mendax occurs widely throughout the Southwest and in Arizona up to the Mogollon Rim, and up the Colorado River from the west to at least River Mile 132 (downstream from Lees Ferry, Arizona) at elevations of 110-1460 m. In Grand Canyon it occurs along small to large tributaries and on the mainstream at elevations below 650 m. The only previously reported locality for B. pertinax in the United States is in southeastern Arizona, where it was presumed to be accidental. We report B. pertinax along 5 small, perennial tributaries emanating from Redwall Formation aquifer springs on the south side of central Grand Canyon. Those springs habitats may be threatened by regional groundwater depletion. Brechmorhoga pertinax appears to be somewhat more stenotolerant in its habitat requirements than B. mendax , a finding in keeping with these differences in range. The presence of isolated populations of B. pertinax in Grand Canyon is an example of a Neotropical influence on the fauna and indicates biogeographic corridor and refuge functions of this large, deep canyon.     

Optimal temperatures for growth and upper thermal tolerance of juvenile northern leatherside chub

We examined optimal temperatures for growth and the upper thermal tolerance of juvenile northern leatherside chub ( Lepidomeda copei ). We conducted 2 experiments using the acclimated chronic-exposure method to estimate optimal temperature for growth of age-0 northern leatherside chub (range 12.8–28.3 °C). Upper thermal tolerance was estimated using the critical thermal maximum (CTM) and upper incipient lethal temperature (UILT) methods for fish acclimated at 15, 18, 23, and 28 °C. We also measured stream temperatures in Yellow Creek, Summit County, Utah, during July–August 2006 to compare our results to actual summer stream temperatures. Survival in growth tests was not significantly different between treatment temperatures in either experiment (P > 0.098). The optimal temperature for growth in the 1st trial estimated from the 2nd-order polynomial regression was 23.0 °C, falling outside the range of experimental temperatures (12.8–22.2 °C). The estimated optimal temperature for growth in the 2nd trial was 23.2 °C. In the upper thermal tolerance tests, juvenile northern leatherside chub had CTM values between 29.6 and 35.0 °C; CTM values increased as acclimation temperature increased. Upper incipient lethal temperatures (LT50) ranged from 26.5 to 30.2 °C, increasing with acclimation temperature. Summer stream temperatures in Yellow Creek had a lower mean (14.0–18.1 °C) than did the optimal temperature for growth determined in these studies, but these temperatures exhibited diel fluctuations as large as 15.7 °C.     

Canids from the late Pleistocene of Utah

Two canids, Vulpes vulpes and Canis lupus , are recorded from shoreline deposits of Lake Bonneville in north central Utah. Both species are new records in the Pleistocene sediments of Utah and add to our scarce knowledge of the large carnivores that inhabited the shoreline environments of Lake Bonneville.     

Inventory of Utah crayfish with notes on current distribution

Crayfish distribution and composition in Utah are poorly documented. Based upon limited collections, the native Pacifastacus gambelii is widespread and often abundant in the Bear and Weber river drainages and is occasionally represented in smaller tributaries to the Great Salt Lake and to the Raft River. Pacifastacus leniusculus was collected from Utah County and Procambarus clarkii from Tooele County; the origin of these populations is not known. The nonnative crayfish Orconectes virilis is currently abundant in the Virgin, Price, and Duchesne river basins and the Glen Canyon, Flaming Gorge, Deer Creek, and Starvation reservoirs; it is expanding in Huntington North, Scofield, and Willard reservoirs. Further work is required to develop a more complete inventory and monitor the impacts on aquatic ecosystems of expanding nonnative crayfish populations. Surreptitious stockings can be dealt with only if the public is made aware of the adverse consequences of ill-conceived introductions.     

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder characterized by recurrent infections of the respiratory tract associated with the abnormal function of motile cilia. Approximately half of individuals with PCD also have alterations in the left-right organization of their internal organ positioning, including situs inversus and situs ambiguous (Kartagener's syndrome). Here, we identify an uncharacterized coiled-coil domain containing a protein, CCDC40, essential for correct left-right patterning in mouse, zebrafish and human. In mouse and zebrafish, Ccdc40 is expressed in tissues that contain motile cilia, and mutations in Ccdc40 result in cilia with reduced ranges of motility. We further show that CCDC40 mutations in humans result in a variant of PCD characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes. CCDC40 localizes to motile cilia and the apical cytoplasm and is required for axonemal recruitment of CCDC39, disruption of which underlies a similar variant of PCD.     

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.     

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density.     

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

Migraine is a common, heterogeneous and heritable neurological disorder. Its pathophysiology is incompletely understood, and its genetic influences at the population level are unknown. In a population-based genome-wide analysis including 5,122 migraineurs and 18,108 non-migraineurs, rs2651899 (1p36.32, PRDM16), rs10166942 (2q37.1, TRPM8) and rs11172113 (12q13.3, LRP1) were among the top seven associations (P < 5 × 10(-6)) with migraine. These SNPs were significant in a meta-analysis among three replication cohorts and met genome-wide significance in a meta-analysis combining the discovery and replication cohorts (rs2651899, odds ratio (OR) = 1.11, P = 3.8 × 10(-9); rs10166942, OR = 0.85, P = 5.5 × 10(-12); and rs11172113, OR = 0.90, P = 4.3 × 10(-9)). The associations at rs2651899 and rs10166942 were specific for migraine compared with non-migraine headache. None of the three SNP associations was preferential for migraine with aura or without aura, nor were any associations specific for migraine features. TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology.