Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.     

The population biology of the living coelacanth studied over 21 years

Between 1986 and 2009 nine submersible and remote-operated vehicle expeditions were carried out to study the population biology of the coelacanth Latimeria chalumnae in the Comoro Islands, located in the western Indian Ocean. Latimeria live in large overlapping home ranges that can be occupied for as long as 21 years. Most individuals are confined to relatively small home ranges, resting in the same caves during the day. One hundred and forty five coelacanths are individually known, and we estimate the total population size of Grande Comore as approximately 300–400 adult individuals. The local population inhabiting a census area along an 8-km section of coastline remained stable for at least 18 years. Using LASER-assisted observations, we recorded length frequencies between 100 and 200 cm total length and did not encounter smaller-bodied individuals (<100 cm total length). It appears that coelacanth recruitment in the observation areas occur mainly by immigrating adults. We estimate that the mean numbers of deaths and newcomers are 3–4 individuals per year, suggesting that longevity may exceed 100 years. The domestic fishery represents a threat to the long-term survival of coelacanths in the study area. Recent changes in the local fishery include a decrease in the abundance of the un-motorized canoes associated with exploitation of coelacanths and an increase in motorized canoes. Exploitation rates have fallen in recent years, and by 2000, had fallen to lowest ever reported. Finally, future fishery developments are discussed.     

Testing the abundant center model using range-wide demographic surveys of two coastal dune plants

It is widely accepted that species are most abundant at the center of their geographic ranges and become progressively rarer toward range limits. Although the abundant center model (ACM) has rarely been tested with range-wide surveys, it influences much thinking about the ecology and evolution of species' distributions. We tested ACM predictions using two unrelated but ecologically similar plants, Camissonia cheiranthifolia and Abronia umbellata. We intensively sampled both throughout their one-dimensional distributions within the Pacific coastal dunes of North America, from northern Baja California, Mexico, to southern Oregon, USA. Data from > 1100 herbarium specimens indicated that these limits have been stable for at least the last 100 years. Range-wide field surveys detected C. cheiranthifolia at 87% of 124 sites and A. umbellata at 54% of 113 sites, but site occupancy did not decline significantly toward range limits for either species. Permutation analysis did not detect a significant fit of geographical variation in local density to the ACM. Mean density did not correlate negatively with mean individual performance (plant size or number of seeds/plant), probably because both species occur at low densities. Although size and seeds per plant varied widely, central populations tended to have the highest values for size only. For C. cheiranthifolia, we observed asymmetry in the pattern of variation between the northern and southern halves of the range consistent with the long-standing prediction that range limits are imposed by different ecological factors in different parts of the geographical distribution. However, these asymmetries were difficult to interpret and likely reflect evolutionary differentiation as well as plastic responses to ecological variation. Both density and seeds per plant contributed to variation in seed production per unit area. In C. cheiranthifolia only, sites with highest seed production tended to occur at the range center, as predicted by the ACM and assumed by theory proposing that range limits evolve via antagonism between natural selection and gene flow.     

Current Normative Concepts in Conservation

A plethora of normative conservation concepts have recently emerged, most of which are ill-defined: biological diversity, biological integrity, ecological restoration, ecological services, ecological rehabilitation, ecological sustainability, sustainable development, ecosystem health, ecosystem management, adaptive management, and keystone species are salient among them. These normative concepts can be organized and interpreted by reference to two new schools of conservation philosophy, compositionalism and functionalism. The former comprehends nature primarily by means of evolutionary ecology and considers Homo sapiens separate from nature. The latter comprehends nature primarily by means of ecosystem ecology and considers Homo sapiens a part of nature. Biological diversity, biological integrity, and ecological restoration belong primarily in the compositionalist glossary; the rest belong primarily in the functionalist glossary. The former set are more appropriate norms for reserves, the latter for areas that are humanly inhabited and exploited. In contrast to the older schools of conservation philosophy, preservationism and resourcism, compositionalism and functionalism are complementary, not competitive and mutually exclusive. As the historically divergent ecological sciences—evolutionary ecology and ecosystem ecology—are increasingly synthesized, a more unified philosophy of conservation can be envisioned.     

Ocean acidification induces budding in larval sea urchins

Ocean acidification (OA), the reduction of ocean pH due to hydration of atmospheric CO₂, is known to affect growth and survival of marine invertebrate larvae. Survival and transport of vulnerable planktonic larval stages play important roles in determining population dynamics and community structures in coastal ecosystems. Here, we show that larvae of the purple urchin, Strongylocentrotus purpuratus, underwent high-frequency budding (release of blastula-like particles) when exposed to elevated pCO₂ level (>700 μatm). Budding was observed in >50 % of the population and was synchronized over short periods of time (~24 h), suggesting this phenomenon may be previously overlooked. Although budding can be a mechanism through which larval echinoids asexually reproduce, here, the released buds did not develop into viable clones. OA-induced budding and the associated reduction in larval size suggest new hypotheses regarding physiological and ecological tradeoffs between short-term benefits (e.g. metabolic savings and predation escape) and long-term costs (e.g. tissue loss and delayed development) in the face of climate change.