Interaction and interrelation of P2X7 and P2X4 receptor complexes in mouse lung epithelial cells

P2X4 and P2X7 receptors are ATP-gated ion channels that are co-expressed in alveolar epithelial type I cells. Both receptors are localized to the plasma membrane and partly associated with lipid rafts. Here we report on our study in an alveolar epithelial cell line of the molecular organization of P2X7R and P2X4R receptors and the effect of their knockdown. Native gel electrophoresis reveals three P2X7R complexes of ~430, ~580 and ~760 kDa. The latter two correspond exactly in size to signals of Cav-1, the structural protein of caveolae. Interestingly knockdown of P2rx7 affects protein levels, the intracellular distribution and the supramolecular organization of Cav-1 as well as of P2X4R, which is mainly detected in a complex of ~430 kDa. Our data suggest upregulation of P2X4R as a compensatory mechanism of P2X7R depletion.     

The genetic and evolutionary basis of colour variation in vertebrates

Variation in pigmentation is one of the most conspicuous phenotypic traits in vertebrates. Although mammals show less variation in body pigmentation than other vertebrate groups, the genetics of colour determination and variation is best understood for them. More than 150 genes have been identified that influence pigmentation, and in many cases, the cause for variation in pigmentation has been identified down to the underlying nucleotide changes. These studies show that while some genes are often responsible for deviating pigmentation, similar or almost identical phenotypes even in the same species may be due to mutations in different genes. In this review we will first discuss the current knowledge about the genes and their functions underlying the biochemical pathways that determine pigmentation and then give examples where the mutations responsible for colour variation have been determined. Finally, we will discuss potential evolutionary causes for and consequences of differences in pigmentation between individuals.     

Reproductive ecology of bison on Antelope Island, Utah

Autumn musters of bison ( Bison bison ) on Antelope Island State Park, Utah, conducted annually since 1987, provided data on temporal and age-specific reproductive patterns and a basis to evaluate the efficacy of management measures implemented to elevate reproductive performance in the herd. Pregnancy rates were variable and low ( x = 46.2%) in comparison to other free-ranging, noncommercial bison herds in North America. Cows in the 3- and > 6-yr range age classes exhibited lower-than-expected pregnancy rates ( P r = 0.64, P = 0.047) linear decline of 2.5% per annum. Variance in distribution of fetal ages observed in 6 yr indicates substantial temporal fluctuation. Long-term reproductive performance of cohorts born prior to implementation of management measures did not differ from that of cohorts born subsequent to these changes.     

Habitat characteristics of small mammals in southeastern Utah

We describe habitat characteristics of 8 small mammal species occurring in the Manti-LaSal National Forest in southeastern Utah. Thirty-seven grids across 7 vegetation types were sample by live-trapping from May through October 1994 and 1995. Logistic regression models of habitat measurements correctly classified small mammal presence 36%-87% of the time. Except for 1 instance, 4 Peromyscus species present in a specific vegetation type were negatively associated with forb or grass cover. Microtus montanus was present primarily on mesas and was positively associated with tall tree and low shrub cover. Neotoma mexicana was present only in canyons and was found primarily in the pinyon-juniper ( Pinus edulis-Juniperus osteosperma ) vegetation type. Tamias spp. was present in all vegetation types. Our results allow better management of these species by providing greater understanding of their use of habitat within vegetation types.     

Habitat use by small mammals in southeastern Utah, with reference to Mexican Spotted Owl management

We determined temporal and spatial differences in abundance and habitat use by small mammals in southeastern Utah as part of an effort to enhance management of the Mexican Spotted Owl ( Strix occidentalis lucida ), listed by the federal government as threatened. Woodrats ( Neotoma spp.) were captured only in canyons and most frequently in the pinyon-juniper ( Pinus edulis-Juniperus osteosperma ) vegetation type. White-footed mice ( Peromyscus spp.) were found in a variety of vegetation types in both canyons and mesas. The deer mouse ( P. maniculatus ) was generally the most frequently captured species among vegetation types. We found seasonal and yearly differences in relative abundance of each small mammal species. Our data suggest that the pinyon-juniper vegetation type within canyons is an important component of Mexican Spotted Owl habitat.     

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p.Gly34Arg alteration.     

Maize HapMap2 identifies extant variation from a genome in flux

Whereas breeders have exploited diversity in maize for yield improvements, there has been limited progress in using beneficial alleles in undomesticated varieties. Characterizing standing variation in this complex genome has been challenging, with only a small fraction of it described to date. Using a population genetics scoring model, we identified 55 million SNPs in 103 lines across pre-domestication and domesticated Zea mays varieties, including a representative from the sister genus Tripsacum. We find that structural variations are pervasive in the Z. mays genome and are enriched at loci associated with important traits. By investigating the drivers of genome size variation, we find that the larger Tripsacum genome can be explained by transposable element abundance rather than an allopolyploid origin. In contrast, intraspecies genome size variation seems to be controlled by chromosomal knob content. There is tremendous overlap in key gene content in maize and Tripsacum, suggesting that adaptations from Tripsacum (for example, perennialism and frost and drought tolerance) can likely be integrated into maize.     

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

Strong signatures of positive selection at newly arising genetic variants are well documented in humans, but this form of selection may not be widespread in recent human evolution. Because many human traits are highly polygenic and partly determined by common, ancient genetic variation, an alternative model for rapid genetic adaptation has been proposed: weak selection acting on many pre-existing (standing) genetic variants, or polygenic adaptation. By studying height, a classic polygenic trait, we demonstrate the first human signature of widespread selection on standing variation. We show that frequencies of alleles associated with increased height, both at known loci and genome wide, are systematically elevated in Northern Europeans compared with Southern Europeans (P < 4.3 × 10(-4)). This pattern mirrors intra-European height differences and is not confounded by ancestry or other ascertainment biases. The systematic frequency differences are consistent with the presence of widespread weak selection (selection coefficients ～10(-3)-10(-5) per allele) rather than genetic drift alone (P < 10(-15)).