Effects of climate change on an emperor penguin population: analysis of coupled demographic and climate models

Sea ice conditions in the Antarctic affect the life cycle of the emperor penguin (Aptenodytes forsteri). We present a population projection for the emperor penguin population of Terre Adélie, Antarctica, by linking demographic models (stage‐structured, seasonal, nonlinear, two‐sex matrix population models) to sea ice forecasts from an ensemble of IPCC climate models. Based on maximum likelihood capture‐mark‐recapture analysis, we find that seasonal sea ice concentration anomalies (SIC_a) affect adult survival and breeding success. Demographic models show that both deterministic and stochastic population growth rates are maximized at intermediate values of annual SIC_a, because neither the complete absence of sea ice, nor heavy and persistent sea ice, would provide satisfactory conditions for the emperor penguin. We show that under some conditions the stochastic growth rate is positively affected by the variance in SIC_a. We identify an ensemble of five general circulation climate models whose output closely matches the historical record of sea ice concentration in Terre Adélie. The output of this ensemble is used to produce stochastic forecasts of SIC_a, which in turn drive the population model. Uncertainty is included by incorporating multiple climate models and by a parametric bootstrap procedure that includes parameter uncertainty due to both model selection and estimation error. The median of these simulations predicts a decline of the Terre Adélie emperor penguin population of 81% by the year 2100. We find a 43% chance of an even greater decline, of 90% or more. The uncertainty in population projections reflects large differences among climate models in their forecasts of future sea ice conditions. One such model predicts population increases over much of the century, but overall, the ensemble of models predicts that population declines are far more likely than population increases. We conclude that climate change is a significant risk for the emperor penguin. Our analytical approach, in which demographic models are linked to IPCC climate models, is powerful and generally applicable to other species and systems.     

Myocardial adenosine cycling rates during normoxia and under conditions of stimulated purine release.

Formation and rephosphorylation of adenosine (adenosine cycling) was studied in isolated rat hearts during normoxia and under conditions of stimulated purine formation. Hearts were infused with an inhibitor of adenosine kinase (5-iodotubercidin, 2 microM). In addition, perfusions were carried out with or without acetate, which is converted into acetyl-CoA, with simultaneous breakdown of ATP to AMP and purines. We found a linear, concentration-dependent, increase in normoxic purine release by acetate (5-20 mM). Differences in total purine release with or without iodotubercidin were taken as a measure of adenosine cycling. In normoxic hearts, iodotubercidin caused a minor increase in purine release (2.7 nmol/min per g wet wt.). Acetate (12.5 mM) increased purine release by 4.9 nmol/min per g, and its combination with inhibitor gave a large increase, by 14.2 nmol/min per g. This indicates a strongly increased adenosine cycling rate during acetate infusion. However, no significant differences in purine release were observed when iodotubercidin was infused during hypoxia, anoxia or ischaemia. The hypothesis that adenosine cycling is near-maximal during normoxia was not confirmed. Increased myocardial adenosine formation appears to be regulated by the availability of AMP and not by inhibition of adenosine kinase. This enzyme mainly functions to salvage adenosine in order to prevent excessive loss of adenine nucleotides.     

Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes.

Sex-chromosome mosaicism was quantitatively analyzed in two patients using DNA probes specific for human X and Y chromosomes. Both patients were female with stigmata of the Turner syndrome, and both had a 45,X cell line and a 46,XY cell line. One of the patients had a morphologically abnormal, nonfluorescent Y chromosome, dic(Y)(q11). Hybridization of DNA from this patient with two repetitive DNA sequences specific for the heterochromatic region of the Y chromosome indicated that most of the Y-heterochromatic sequences were deleted. DNA from both patients was hybridized with a probe for the DXYS1 locus and found to have the X- and Y-linked loci. Densitometric measurements of the relative intensities of the X- and Y-linked bands were used to calculate the degree of mosaicism in each case. The percentages of 45,X cells obtained by DNA analysis agreed with those obtained by chromosome analysis. DNA analysis provides a way to quantitate mosaicism at the DNA level and in nondividing tissue.     

Impedance characteristics of a neuromusculoskeletal model of the human arm II. Movement control

The modulation of neuromusculoskeletal impedance during movements is analysed using a motor control model of the human arm. The motor control system combines feedback and feedforward control and both control modes are determined in one optimization process. In the model, the stiffness varies at the double movement frequency for 2-Hz oscillatory elbow movements and has high values at the movement reversals. During goal-directed two-degrees-of-freedom arm movements, the stiffness is decreased during the movement and may be increased in the initial and final phases, depending on the movement velocity. The stiffness has a considerable curl during the movement, as was also observed in experimental data. The dynamic stiffness patterns of the model can be explained basically by the α−γ coactivation scheme where feedback gains covary with motor control signals. In addition to the modulation of the gain factors, it is argued that the variation of the intrinsic stiffness has a considerable effect on movement control, especially during fast movements. Received: 14 October 1997 / Accepted in revised form: 18 May 1999     

Growth failure in early life: an important manifestation of Turner syndrome

The goals of this study were to test the hypothesis that girls with Turner syndrome (TS) experience growth failure early in life and to establish model-based normative growth charts for 0- to 8-year-old American girls with TS. Full-term girls with TS who had 5 or more measurements of height obtained during their first 10 years of life prior to initiation of growth hormone, estrogen and/or androgen therapy were eligible for this study. A nonlinear mixed-effects model comprising the first two components of the infancy-childhood-puberty (ICP) model of growth was fitted to the longitudinal height measurements and compared with those of healthy American girls. Height measurements (n = 1,146) from 112 girls with TS (45,X: 57.1%; 45,X/46,XX: 12.5%; 46,X, iso(X): 4.5%, and other: 25.9%) were analyzed. Mean height SDS fell from -0.68 at birth to -1.60 at 1 year, -1.80 at 2 years and -1.95 at 3 years. When compared to controls (676 girls, 4,537 measurements), girls with TS grew more slowly due to three principal factors: a slow growth rate of the infancy component, a slow growth rate at the onset of the childhood component, and delayed onset of the childhood component. Traditional concepts of growth failure in TS should be revised. Physicians should consider the diagnosis of TS in any girl with unexplained failure to thrive or short stature, even in the first 3 years of life.     

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Summary An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1×10^–4 per gamete per generation. The molecular basis for frequent NF1 mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred on the paternally-derived chromosome. The probability of observing this result by chance is less than 0.001 assuming an equal frequency of mutation of paternal and maternal NF1 genes. We hypothesize a role for genomic imprinting that may either enhance mutation of the paternal NF1 gene or confer protection from mutation to the maternal NF1 gene.     

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation.