The origins of aneuploidy research consortium

The presence of high levels of aneuploidy in oocytes and early embryos and their fate is of considerable scientific and clinical importance. The Origins of Aneuploidy Research Consortium (OARC) was established to promote interdisciplinary communication and collaborative research into this topic. Under the umbrella of OARC, a series of papers has now been published in this Special Issue of Prenatal Diagnosis. Recent studies have transformed the view that aneuploidy is usually attributable to meiotic non-disjunction. The molecular basis for the association between meiotic error and maternal age is becoming understood. The clinical significance of mitotic instability in the earliest cells divisions of the embryo is also becoming clearer. An error in the segregation of one or more whole chromosomes from a parent does not invariably result in a non-viable pregnancy or an abnormal outcome. Epidemiologic data allows an assessment of in utero viability, the effect of maternal age, and secondary factors that may affect aneuploidy prevalence. We advocate careful use of nomenclature and revision of educational materials to more accurately explain the complex and often nuanced mechanisms. OARC plans to hold additional workshops, promote additional publications and offer educational resources.     

Determining gestational age using genome methylation profile: A novel approach for fetal medicine

Gestational age determination by traditional tools (last menstrual period, ultrasonography measurements and Ballard Maturational Assessment in newborns) has major limitations and therefore there is a need to find different approaches. In this study, we looked for a molecular marker that can be used to determine the accurate gestational age of the newborn. To this end, we performed reduced representation bisulfite sequencing (RRBS) on 41 cord blood and matching placenta samples from women between 25 and 40 weeks of gestation and generated an epigenetic clock based on the methylation level at different loci in the genome. We identified a set of 332 differentially methylated regions (DMRs) that undergo demethylation in late gestational age in cord blood cells and can predict the gestational age (r = −.7, P = 2E-05). Once the set of 411 DMRs that undergo de novo methylation in late gestational age was used in combination with the first set, it generated a more accurate clock (R = .77, P = 1.87E-05). We have compared gestational age determined by Ballard score assessment with our epigenetic clock and found high concordance. Taken together, this study demonstrates that DNA methylation can accurately predict gestational age and thus may serve as a good clinical predictor.     

Circadian shelter occupancy patterns and predator–prey interactions of juvenile Caribbean spiny lobsters in a reef lagoon

The spiny lobster, Panulirus argus, is predominantly nocturnal, remaining inside shelters during the day and foraging outside at night, presumably to minimize predation risk. Predation risk generally decreases with increasing lobster size. Therefore, this study examined the hypothesis that size would influence this basic circadian pattern. Video cameras continuously recorded the shelter occupancy of juvenile lobsters (n = 72) having a carapace length (CL) of 30–62 mm that were tethered to shelters in a shallow reef lagoon. The lobsters’ shelter occupancy was 100% during the day, but declined linearly from shortly before sunset to a minimum of 50% shortly after midnight and then increased linearly, reaching 100% by 1 h after sunrise. The percent time the lobsters spent in the shelters followed a similar trend, but there was wide variability at night (0–100%) for individual lobsters. Lobsters left their shelters 2–30 times night⁻¹, with a majority of excursions lasting <10 min. These results suggest that juvenile P. argus minimize predation risk by remaining in their shelters as long as possible but offset the energetic cost of this behavior by foraging close to their shelters for several short periods at night. This emergence pattern contrasts with those of early benthic phase lobsters (<15 mm CL), which seldom leave their shelters, and adults (>80 mm CL), which have a dusk/early evening peak in activity and leave the shelter for extended periods of time during the night. Furthermore, a minimum shelter occupancy in the middle of the night appears especially well adapted to avoid exposure to daytime predators. Videotaped observations also included interactions between lobsters and two dominant lobster predators, the triggerfish, Balistes capriscus, and the octopus Octopus cf. vulgaris. Lobsters responded differently to these predators: remaining in the shelter when attacked by a triggerfish and fleeing the shelter when attacked by an octopus. Triggerfish were nearly twice as likely to attack a lobster that was outside of the shelter than inside. Once under attack, however, a lobster had nearly the same chance of surviving if it was inside or outside. Results suggest that the patterns of shelter use and emergence change as lobsters grow, probably reflecting the interplay between perception of predation risk and the need to forage. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Nature and extent of metal-contaminated soils in urban environments (keynote talk)

Research on the nature and extent of metal-contaminated soil began with an urban garden study in Baltimore, MD (USA). Largest quantities of soil metals were clustered in the inner city with lesser amounts scattered throughout metropolitan Baltimore. The probability values of metal clustering varied from P value 10^?15–10^?23 depending on element. The inner-city clustering of lead (Pb) could not be explained by Pb-based paint alone. A major Pb source was tetraethyl lead (TEL), developed as an anti-knock agent for use in vehicle fuel, thereby making highway traffic flow a toxic substance delivery system in cities. Further study in Minneapolis and St. Paul confirmed the clustering of inner-city soil metals, especially Pb. Based on the evidence, the Minnesota State Legislature petitioned Congress to curtail Pb additives resulting in the rapid phasedown of TEL on January 1, 1986, 10 years ahead of the EPA scheduled ban. Further research in New Orleans, Louisiana (NOLA), verified the link between soil Pb, blood Pb, morbidity, and societal health. Although Pb is a known cause of clinical impairment, there is no known effective medical intervention for reducing children’s blood Pb exposure. Ingestion and inhalation are routes of exposure requiring prevention, and soil is a reservoir of Pb. Children’s blood Pb exposure observed in pre-Hurricane Katrina (August 29, 2005) NOLA underwent substantial decreases 10 years post-Katrina due to many factors including input of low Pb sediment residues by the storm surge and the introduction of low Pb landscaping materials from outside of the city. Investigation on the topic is ongoing.     

Evaluating tributary restoration potential for Pacific salmon recovery.

Although habitat restoration can play a key role in the conservation of imperiled species, for animals that demonstrate long migrations and complex life histories, reliance on physical restoration of isolated habitat patches comes with considerable uncertainty. Nevertheless, within freshwater ecosystems, stream restoration has become a major conservation focus, with millions of dollars spent annually on efforts aimed at recovering degraded habitat and imperiled riverine species. Within this context, we addressed fundamental uncertainties of the focus on tributary restoration for recovery of salmon: (1) Is there potential for improving habitat in tributaries? (2) What magnitude of early survival improvement can be expected based on stream restoration? and (3) Will incremental increases in early survival be sufficient to ensure viability overall? We combined simple mechanistic habitat models, population viability measures, and categorical filters to quantify "restoration potential," expressed as increased total life-cycle survival in response to restored tributary condition, across 32 populations composing five major population groups (MPG). A wide gap remains between how much survival improvement is needed vs. what is likely to occur; restoration potential meets the necessary minimum increase needed for only four populations within one MPG. The remaining populations (84%, 4 MPG) still fall far below the survival increase needed for future viability. In addition, across all populations and groups, a 171% increase (on average) in total life-cycle survival is needed; only approximately 106% appears possible. A recovery strategy for these salmon that relies largely on tributary restoration to mitigate for known mortality imposed at other life stages (e.g., migration through hydropower dams) is risky with a low probability of success. We demonstrate an approach for completing an a priori evaluation of restoration potential linked to population viability, such that habitat restoration efforts can be biologically prioritized and scarce resources can be allocated to efforts with the greatest potential and the least amount of risk, in terms of meeting conservation and recovery goals.