Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Effects of ocean temperature on the southern range limits of two understory kelps, <Emphasis Type="Italic">Pterygophora californica</Emphasis> and <Emphasis Type="Italic">Eisenia arborea</Emphasis>, at multiple life-stages

Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico, by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or (b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically, while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast, the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja California, as well as to the north along the California coast where both species co-occur.     

Geochemical characteristics of surficial sediments in a tropical estuary, south-west India

Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones.     

Inhibitory effects of red algal extracts on larval settlement of the barnacle Balanus improvisus

We examined the chemical antifouling properties of four sublittoral red algae, Chondrus crispus, Delesseria sanguinea, Osmundea ramosissima, and Polyides rotundus, which are all rarely fouled in the field. Two different approaches were used. Firstly, we tested the effects of lipophilic crude extracts on the settlement behaviour of cyprid larvae of the co-existing barnacle Balanus improvisus. Secondly, in a settlement preference experiment, we tested whether B. improvisus cyprid larvae settle on living algae when given a choice between natural algal surfaces and control surfaces. With this procedure, we were able to test both if the algae inhibit recruitment of cyprids, and if this inhibition is a result of chemistry. The settlement of B. improvisus larvae was strongly inhibited at concentrations estimated to be potentially ecologically relevant for all of the tested extracts. However, only C. crispus significantly inhibited settlement in the preference experiment, even though there was also a tendency for settlement inhibition on P. rotundus and O. ramosissima. In contrast, D. sanguinea seemed to stimulate settlement. This contradiction probably resulted from an extraction of metabolites that naturally occur only inside the alga. However, as this study shows, a combination of settlement assays with whole-cell extracts and preference tests of ecologically relevant fouling organisms on natural algal and control surfaces may be a useful procedure to avoid erroneous conclusions regarding natural antifouling roles of compounds based on settlement assays with only whole-cell extracts. Furthermore, this study also shows that production of inhibitory metabolites may explain the low degree of fouling, especially by B. improvisus, on C. crispus.Communicated by L. Hagerman, Helsingør     

A special adaptation to planktonic life in larvae of the Cassoidea (=Tonnoidea) (Gastropoda)

Living veligers of the Cassoidea have been observed to use a mantle appendage to form and resorb periostracum. Anatomical and histological examinations of a ranellid (Cymatium sp.) larva collected from the Red Sea in 1987 revealed the structure and location of the pallial appendage. The mantle edges of juvenile or adult species of the Cassoidea do not show a comparable specialization. It is demonstrated that cassoid larval conch characters are sufficient to prove the existence of a pallial appendage without anatomical confirmation. A mantle appendage is not known from teleplanic (long-living planktic) veligers of other gastropod superfamilies. In cases where the larval strategies of the latter are known they are totally different. Therefore it is suggested that the adaptation of cassoid larvae to pelagic life is unique among gastropods representing an autapomorphic character of the superfamily.