Behavioural adjustments of predators and prey to wind speed in the boreal forest.

Wind speed can have multifaceted effects on organisms including altering thermoregulation, locomotion, and sensory reception. While forest cover can substantially reduce wind speed at ground level, it is not known if animals living in forests show any behavioural responses to changes in wind speed. Here, we explored how three boreal forest mammals, a predator and two prey, altered their behaviour in response to average daily wind speeds during winter. We collected accelerometer data to determine wind speed effects on activity patterns and kill rates of free-ranging red squirrels (n = 144), snowshoe hares (n = 101), and Canada lynx (n = 27) in Kluane, Yukon from 2015 to 2018. All 3 species responded to increasing wind speeds by changing the time they were active, but effects were strongest in hares, which reduced daily activity by 25%, and lynx, which increased daily activity by 25%. Lynx also increased the number of feeding events by 40% on windy days. These results highlight that wind speed is an important abiotic variable that can affect behaviour, even in forested environments.

Optimisation of energetic and reproductive gains explains behavioural responses to environmental variation across seasons and years.

Animals switch between inactive and active states, simultaneously impacting their energy intake, energy expenditure and predation risk, and collectively defining how they engage with environmental variation and trophic interactions. We assess daily activity responses to long-term variation in temperature, resources and mating opportunities to examine whether individuals choose to be active or inactive according to an optimisation of the relative energetic and reproductive gains each state offers. We show that this simplified behavioural decision approach predicts most activity variation (R2  = 0.83) expressed by free-ranging red squirrels over 4 years, as quantified through accelerometer recordings (489 deployments; 5066 squirrel-days). Recognising activity as a determinant of energetic status, the predictability of activity variation aggregated at a daily scale, and the clear signal that behaviour is environmentally forced through optimisation of gain, provides an integrated approach to examine behavioural variation as an intermediary between environmental variation and energetic, life-history and ecological outcomes.

Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia.

Schizophrenia is a neurodevelopmental disorder that affects up to 1% of the general population. Various genes show associations with schizophrenia and a very weak nominal association with the tight junction protein, claudin-5, has previously been identified. Claudin-5 is expressed in endothelial cells forming part of the blood-brain barrier (BBB). Furthermore, schizophrenia occurs in 30% of individuals with 22q11 deletion syndrome (22q11DS), a population who are haploinsufficient for the claudin-5 gene. Here, we show that a variant in the claudin-5 gene is weakly associated with schizophrenia in 22q11DS, leading to 75% less claudin-5 being expressed in endothelial cells. We also show that targeted adeno-associated virus-mediated suppression of claudin-5 in the mouse brain results in localized BBB disruption and behavioural changes. Using an inducible 'knockdown' mouse model, we further link claudin-5 suppression with psychosis through a distinct behavioural phenotype showing impairments in learning and memory, anxiety-like behaviour and sensorimotor gating. In addition, these animals develop seizures and die after 3-4 weeks of claudin-5 suppression, reinforcing the crucial role of claudin-5 in normal neurological function. Finally, we show that anti-psychotic medications dose-dependently increase claudin-5 expression in vitro and in vivo while aberrant, discontinuous expression of claudin-5 in the brains of schizophrenic patients post mortem was observed compared to age-matched controls. Together, these data suggest that BBB disruption may be a modifying factor in the development of schizophrenia and that drugs directly targeting the BBB may offer new therapeutic opportunities for treating this disorder.

Post-weaning parental care increases fitness but is not heritable in North American red squirrels.

Most empirical attempts to explain the evolution of parental care have focused on its costs and benefits (i.e. fitness consequences). In contrast, few investigations have been made of the other necessary prerequisite for evolutionary change, inheritance. Here, we examine the fitness consequences and heritability (h(2)) of a post-weaning parental care behaviour (territory bequeathal) in a wild population of North American red squirrels. Each year, a subset (average across all years = 19%) of reproductive females bequeathed their territory to a dependent offspring. Bequeathing females experienced higher annual reproductive success and did not suffer a survival cost to themselves relative to those females retaining their territory. Bequeathing females thus realized higher relative annual fitness [ω = 1.18 ± 0.03 (SE)] than nonbequeathing females [ω = 0.96 ± 0.02 (SE)]. Additive genetic influences on bequeathal behaviour, however, were not significantly different from 0 (h(2) = 1.9 × 10(-3); 95% highest posterior density interval = 3.04 × 10(-8) to 0.37) and, in fact, bequeathal behaviour was not significantly repeatable (R = 2.0 × 10(-3); 95% HPD interval = 0-0.27). In contrast, directional environmental influences were apparent. Females were more likely to bequeath in years following low food abundance and when food availability in the upcoming autumn was high. Despite an evident fitness benefit, a lack of heritable genetic variance will constrain evolution of this trait.

Selection on female behaviour fluctuates with offspring environment.

Temporal variation in selection has long been proposed as a mechanism by which genetic variation could be maintained despite short-term strong directional selection and has been invoked to explain the maintenance of consistent individual differences in behaviour. We tested the hypothesis that ecological changes through time lead to fluctuating selection, which could promote the maintenance of variation in female behavioural traits in a wild population of North American red squirrels. As predicted, linear selection gradients on female aggression and activity significantly fluctuated across years depending on the level of competition among juveniles for vacant territories. This selection acted primarily through juvenile overwinter survival rather than maternal fecundity. Incorporating uncertainty in individual measures of behaviour reduced the magnitude of annual selection gradients and increased uncertainty in these estimates, but did not affect the overall pattern of temporal fluctuations in natural selection that coincided with the intensity of competition for vacant territories. These temporal fluctuations in selection might, therefore, promote the maintenance of heritable individual differences in behaviour in this wild red squirrel population.

Disruptive viability selection on adult exploratory behaviour in eastern chipmunks.

Heterogeneous forces of selection associated with fluctuating environments are recognized as important factors involved in the maintenance of inter-individual phenotypic variance within populations. Consistent behavioural differences over time and across situations (e.g. personality) are increasingly cited as examples of individual variation observed within populations. However, the suggestion that heterogeneous selective pressures target different animal personalities remains largely untested in the wild. In this 5-year study, we investigated the dynamics of viability selection on a personality trait, exploration, in a population of eastern chipmunks (Tamias striatus) experiencing substantial seasonal variations in weather conditions and food availability associated with masting trees. Contrary to our expectations, we found no evidence of fluctuating selection on exploration. Instead, we found strong disruptive viability selection on adult exploration behaviour, independent of seasonal variations. Individuals with either low or high exploration scores were almost twice as likely to survive over a 6-month period compared with individuals with intermediate scores. We found no evidence of viability selection on juvenile exploration. Our results highlight that disruptive selection might play an important role in the maintenance of phenotypic variance of wild populations through its effect on different personality types across temporally varying environmental conditions.

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.

Retinitis pigmentosa is a group of clinically and genetically heterogeneous retinopathies and a significant cause of worldwide visual handicap. We have typed DNA from members of a Spanish family segregating an autosomal dominant form of retinitis pigmentosa (adRP) using a large series of simple sequence polymorphic markers. Positive two-point lod scores have been obtained with fifteen markers including D7S480 (theta max = 0.00, Zmax = 7.22). Multipoint analyses using a subset of these markers gave a lod score of 7.51 maximizing at D7S480. These data provide definitive evidence for the localisation of an adRP gene on chromosome 7q, and highlight the extensive genetic heterogeneity that exists in the autosomal dominant form of this disease.

Retinopathy induced in mice by targeted disruption of the rhodopsin gene.

Retinitis pigmentosa (RP) represents the most common mendelian degenerative retinopathy of man, involving death of rod photoreceptors, cone cell degeneration, retinal vessel attenuation and pigmentary deposits. The patient experiences night blindness, usually followed by progressive loss of visual field. Genetic linkage between an autosomal dominant RP locus and rhodopsin, the photoreactive pigment of the rod cells, led to the identification of mutations within the rhodopsin gene in both dominant and recessive forms of RP. To better understand the functional and structural role of rhodopsin in the normal retina and in the pathogenesis of retinal disease, we generated mice carrying a targeted disruption of the rhodopsin gene. Rho-/- mice do not elaborate rod outer segments, losing their photoreceptors over 3 months. There is no rod ERG response in 8-week-old animals. Rho+/- animals retain the majority of their photoreceptors although the inner and outer segments of these cells display some structural disorganization, the outer segments becoming shorter in older mice. These animals should provide a useful genetic background on which to express other mutant opsin transgenes, as well as a model to assess the therapeutic potential of re-introducing functional rhodopsin genes into degenerating retinal tissues.

Low heritabilities, but genetic and maternal correlations between red squirrel behaviours.

Consistent individual differences in behaviour, and behavioural correlations within and across contexts, are referred to as animal personalities. These patterns of variation have been identified in many animal taxa and are likely to have important ecological and evolutionary consequences. Despite their importance, genetic and environmental sources of variation in personalities have rarely been characterized in wild populations. We used a Bayesian animal model approach to estimate genetic parameters for aggression, activity and docility in North American red squirrels (Tamiasciurus hudsonicus). We found support for low heritabilities (0.08-0.12), and cohort effects (0.07-0.09), as well as low to moderate maternal effects (0.07-0.15) and permanent environmental effects (0.08-0.16). Finally, we found evidence of a substantial positive genetic correlation (0.68) and maternal effects correlation (0.58) between activity and aggression providing evidence of genetically based behavioural correlations in red squirrels. These results provide evidence for the presence of heritable variation in red squirrel behaviour, but also emphasize the role of other sources of variation, including maternal effects, in shaping patterns of variation and covariation in behavioural traits.

Evidence of multiple paternity and mate selection for inbreeding avoidance in wild eastern chipmunks.

Mate selection for inbreeding avoidance is documented in several taxa. In mammals, most conclusive evidence comes from captive experiments that control for the availability of mates and for the level of genetic relatedness between mating partners. However, the importance of mate selection for inbreeding avoidance as a determinant of siring success in the wild has rarely been addressed. We followed the reproduction of a wild population of eastern chipmunks (Tamias striatus) during five breeding seasons between 2006 and 2009. Using molecular tools and parentage assignment methods, we found that multiple paternity (among polytocous litters) varied from 25% in an early-spring breeding season when less than a quarter of females in the population were reproductively active to 100% across three summer breeding seasons and one spring breeding season when more than 85% of females were reproductively active. Genetically related parents were common in this population and produced less heterozygous offspring. Furthermore, litters with multiple sires showed a higher average relatedness among partners than litters with only a single sire. In multiply sired litters, however, males that were more closely related to their partners sired fewer offspring. Our results corroborate findings from captive experiments and suggest that selection for inbreeding avoidance can be an important determinant of reproductive success in wild mammals.

The pathophysiology of cigarette smoking and age-related macular degeneration.

Age-related macular degeneration (AMD) is the most common form of visual impairment, in people over 65, in the Western world. AMD is a multifactorial disease with genetic and environmental factors influencing disease progression. Cigarette smoking is the most significant environmental influence with an estimated increase in risk of 2- to 4-fold. Smoke-induced damage in AMD is mediated through direct oxidation, depletion of antioxidant protection, immune system activation and atherosclerotic vascular changes. Moreover, cigarette smoke induces angiogenesis promoting choroidal neovascularisation and progression to neovascular AMD. Further investigation into the effects of cigarette smoke through in vitro and in vivo experimentation will provide a greater insight into the pathogenesis of age-related macular degeneration.

Climate and resource determinants of fundamental and realized metabolic niches of hibernating chipmunks.

Torpor is a reversible reduction in endotherm body temperature and metabolic rate. Because torpid endotherms can attain lower body temperatures in colder environments, minimum torpor metabolism generally increases with rising air temperature whereas euthermic metabolism generally declines with rising air temperature. As a result, the fundamental metabolic niche of endotherms that express torpor should be driven by climate and should be broadest in colder environments. On the other hand, if torpor serves primarily as an energy conservation strategy and its expression is influenced by energy availability, then the realized metabolic niche should be defined by resources. To evaluate the influence of resource and climate on torpor use and metabolism of hibernating mammals, we monitored the torpor expression of free-ranging eastern chipmunks (Tamias striatus) over two winters of varying resource abundance. In the low-food year, soil temperature constrained maximum torpor expression but was too invariant across small spatial scales to explain individual variation in torpor expression. In the high-food year, torpor was drastically reduced, and local density of seed-producing trees predicted fine-scale spatial variation in torpor expression. Thus, the fundamental metabolic niche of hibernating chipmunks in cold environments is broad and constrained by climate, whereas the realized metabolic niche is highly variable among individuals and years and is determined primarily by local resource abundance.

Structural and transcriptional properties associated with a member of a new family of conserved short dispersed repeated elements in human DNA.

The sequence of a 500-bp segment of human DNA containing a member of the 'A3' family of dispersed repeated elements, a family hitherto uncharacterized in human or rodent DNAs, is presented. The repeated element maps to a region of 270 bp, within which the most notable features are 17-mer direct repeats separated by 190 bp. A probe containing the repeated element, together with flanking single-copy DNA illuminates a series of multiple bands in blot transfers of restriction digests of human, mouse and hamster DNAs. However, the flanking single-copy DNA hybridizes to human, but not to rodent DNA. The same probe illuminates homologous transcripts occurring in a single size class of 0.8 kb in total RNA from a variety of human and mouse cells, levels of which vary approx. 100-fold in the tissues analyzed. Poly(A)+ RNAs from EJ-transformed 3T3 cells and mouse fibrosarcomas have been analysed and found also to contain an homologous 0.8-kb transcript.

Torpor and digestion in food-storing hibernators.

Many species of hibernating mammals rely on hoarded food rather than body fat to support winter energy requirements. Here, we evaluate whether the associated ingestive and digestive requirements reduce the benefits that food-storing hibernators can accrue from torpor. Using a simple model, we predict (1) that digestive efficiency could either increase or decrease with increased use of torpor, depending on the Q(10) of digestion relative to the Q(10) of whole-animal metabolism and (2) that increased torpor will result in a linear decrease in energy consumption but an exponential increase in euthermic intake requirements. In 16 captive eastern chipmunks (Tamias striatus), the proportion of time that different individuals spent in torpor was highly variable (29.8%+/-5.9%; 0.0%-86.3%), positively correlated with dry matter digestibility (r2=0.53, P=0.02) and negatively correlated with energy consumption (r2=0.72, P=0.002). Thus, by both increasing conversion efficiency and reducing energy requirements, torpor appears to provide a double benefit for energy conservation by food-storing hibernators. Despite this, a comparative analysis shows that the euthermic intervals of food-storing rodents are four times as long and torpor intervals are half as long as that of fat-storing rodents. Given that required euthermic intake rates are expected to increase exponentially at high levels of torpor, the reduced torpor expression of food-storing species may result from constraints on their ability to load enough food into the gut when euthermic to cover the energy requirements of the subsequent torpor cycle.

Body oxygen stores, aerobic dive limits, and the diving abilities of juvenile and adult muskrats (Ondatra zibethicus).

Intraspecific variability in body oxygen reserves, muscle buffering capacity, diving metabolic rate, and diving behavior were examined in recently captured juvenile and adult muskrats. Allometric scaling exponents for lung (b=1.04), blood (b=0.91), and total body oxygen storage capacity (b=1.09) did not differ from unity. The concentration of skeletal muscle myoglobin scaled positively with mass in 254-600-g juveniles (b=1.63) but was mass-independent in larger individuals. Scaling exponents for diving metabolic rate and calculated aerobic dive limit (ADL) were 0.74 and 0.37, respectively. Contrary to allometric predictions, we found no evidence that the diving abilities of muskrats increased with age or body size. Juveniles aged 1-2 mo exhibited similar dive times but dove more frequently than summer-caught adults. Average and cumulative dive times and dive&rcolon;surface ratios were highest for fall- and winter-caught muskrats. Total body oxygen reserves were greatest in winter, mainly due to an increase in blood oxygen storage capacity. The buffering capacity of the hind limb swimming muscles also was highest in winter-caught animals. Several behavioral indicators of dive performance, including average and maximum duration of voluntary dives, varied positively with blood hemoglobin and muscle myoglobin concentration of muskrats. However, none of the behavioral measures were strongly correlated with the total body oxygen reserves or ADLs derived for these same individuals.

Observations on the structure of two human 7SK pseudogenes and on homologous transcripts in vertebrate species.

A comparison of the sequence of two human 7SK RNA pseudogenes, covering approx. 190 and 240 base-pairs of the structural gene, is presented. Both repeated elements are flanked by direct repeats and begin at the 5' end of the gene. Each terminates approx. 90 base-pairs short of the 3' end, the latter representing a continuous sequence and the former carrying an internal deletion of about 40 base-pairs, this region being flanked in the progenitor gene by short repeated sequences. Southern blotting using a human 7SK pseudogene probe illuminated a series of multiple restriction fragments in mammalian genomes, with generally fewer fragments in the genomes of birds and reptiles and a single reactive fragment in DNA from terrapin (Pseudemys scripta elegans) and Xenopus laevis (South African clawed toad). In the latter case this fragment was only detectable on long exposure under the hybridization stringencies employed. 7SK transcripts were readily detectable in all mammalian, avian, reptilian and amphibian species analysed, although the gene appeared to be expressed at rather low levels in the ovaries of Xenopus laevis, possibly accounting for its failure to have become dispersed via 'retroposition' in this species.

Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA.

DNA isolated from a rodent-human hybrid cell line containing human chromosomes 3, 7, 9, 10, 14 and 22 was cloned in the plasmid vector pAT153. Recombinant plasmids containing inserts of human origin were identified by colony hybridization to 32P-labelled human DNA under conditions in which only repetitive sequences interact. Single- and low-copy sequences were liberated from these plasmids by restriction endonuclease digestion and used as hybridization probes against human DNA and DNA isolated from a panel of Chinese hamster-human hybrids. One single-copy probe was shown to react with a genomic sequence unique to human chromosome 7 and to recognize an apparent restriction fragment size polymorphism in human DNA.

Apoptotic photoreceptor death in the rhodopsin knockout mouse in the presence and absence of c-fos.

A combined total of approximately 100 mutations have been encountered within the rhodopsin gene in retinitis pigmentosa (RP) and congenital night blindness. Mice carrying a targeted disruption of the rhodopsin gene phenotypically mimic RP, losing their photoreceptors over a period of 3 months and having no recordable rod electroretinogram. These animals will serve as a model for both recessive and dominant disease (in the latter case, the presence of normal and mutant human rod opsin transgenes on the murine Rho(-/-)background). Precise knowledge of apoptotic photoreceptor cell death, together with factors which may influence apoptosis will be required for optimum utility of Rho(-/-)mice as a model for therapeutic genetic intervention. A peak phase of apoptosis of the photoreceptors of Rho(-/-)mice was shown to occur at 24 days post-birth. The extent of apoptosis appeared to be similar, irrespective of whether or not the rod opsin knockout was present on a c-fos(+/+)or c-fos(-/-)genetic background, the latter known to favor survival of photoreceptors following exposure of mouse retinas to excessive light. These data clearly support the existence in animals of distinct apoptotic pathways in light-induced, as opposed to mutation-induced apoptosis, and together with similar observations recently reported in studies of the naturally occurring rd mouse, may assist in focusing future research on precisely defining the distinct molecular pathways giving rise to such dichotomy.

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

DNA from members of an Irish pedigree presenting with late onset autosomal dominant retinitis pigmentosa (ADRP) have been typed with a series of genetic markers from chromosome 6p. Positive two-point lod scores have been obtained with five markers (D6S89: theta = 0.10, Z = 3.338; D6S109: theta = 0.10, Z = 3.932; D6S105: theta = 0.00, Z = 6.081; HLA-DRA: theta = 0.00, Z = 4.364; and RDS: theta = 0.00, Z = 5.376). In a series of overlapping multipoint analyses a lod score of 6.6 was obtained, maximizing at HLA-DRA and hence localizing the ADRP gene (RP5) segregating in this pedigree to 6p. These data provide direct evidence for an additional autosomal dominant RP locus and strongly implicate the human equivalent of the mouse retinal degeneration slow (rds) gene, peripherin-rds, as a candidate for autosomal dominant retinitis pigmentosa.

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

We recently reported the localization of a gene for late-onset autosomal dominant retinitis pigmentosa (adRP; RP6), on the short arm of chromosome 6, by linkage analysis in a large family of Irish origin. It is notable that the gene encoding peripherin-RDS, a photoreceptor-specific protein, recently has been physically mapped on 6p. In our own analysis, an intrageneic marker derived from this gene cosegregated with the adRP disease locus with zero recombination (lod score 5.46 at q = .00). Using the CEPH reference panel, we now report the mapping of the peripherin-RDS gene relative to other 6p markers in the CEPH data base. Incorporation of these data into a multipoint analysis produced a lod score for adRP of 8.21, maximizing at the peripherin-RDS locus. This study provides strong evidence suggesting a role for peripherin-RDS in the etiology of one form of adRP.