Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic FHS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS.     

Gender differences in UV-induced inflammation and immunosuppression in mice reveal male unresponsiveness to UVA radiation

Immunosuppression attributed mainly to the UVB (290-320 nm) waveband is a prerequisite for skin cancer development in mice and humans. The contribution of UVA (320-400 nm) is controversial, but in mice UVA irradiation has been found to antagonise immunosuppression by UVB. In other studies of photoimmune regulation, protection mediated via oestrogen receptor-β signalling was identified as a normal endogenous defence in mice, and was shown to depend on UVA irradiation. A gender bias in photoimmune responsiveness was thus suggested, and is tested in this study by comparing the UV-induced inflammatory and immune responses in male and female hairless mice. We report that male mice, which show greater skin thickness than females, developed a less intense but slower resolving sunburn inflammatory oedema, correlated with reduced epidermal expression of pro-inflammatory IL-6 than females following solar simulated UV (SSUV, 290-400 nm) exposure. On the other hand, the contact hypersensitivity reaction (CHS) was more severely suppressed by SSUV in males, correlated with increased epidermal expression of immunosuppressive IL-10. Exposure to the UVB waveband alone, or to cis-urocanic acid, suppressed CHS equally in males and females. However, whereas UVA irradiation induced immunoprotection against either UVB or cis-urocanic acid in females, this protection was significantly reduced or abrogated in males. The results indicate that males are compromised by a relative unresponsiveness to the photoimmune protective effects of UVA, alone or as a component of SSUV. This could explain the known gender bias in skin cancer development in both mice and humans.     

The influence of exposure to low temperature on Tilapia mossambica Peters (Cichlidae).

In the cichlid teleost Tilapia mossambica secondary chill coma following exposure to 11° C in freshwater is associated with decreases in plasma osmolarity, sodium and chloride ion concentrations. Fish exposed in seawater diluted to give a NaCl concentration of 5%0 show no signs of coma nor are there decreases in osmolarity or sodium and chloride ion concentrations.
It is suggested that the restrictions of T. mossambica to estuaries at the southern end of its distribution in southern Africa relates to the maintenance of near normal sodium and chloride ion concentrations at low temperatures during winter.     

Ecology of the sundays river Part I. Water chemistry

Summary Water analyses were done on samples taken at a series of points along the Sundays River in the Eastern Cape, South Africa. The chemical characteristics of the water were then correlated with the geological and geographical nature of the catchment.

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Zusammenfassung Wasserproben von einer Reihe von Stellen des Sundays Rivers in der Östlichen Kapprovinz, Süd Africa, sind analysiert. Die chemischen Eigenschaften sind bezogen auf der geologischen and geographischen Natur des Sammelgebietes.

     

Phosphorus cycling in a dense Potamogeton pectinatus L. Bed

Summary An analysis of phosphorus concentrations and standing stocks in the various components of a dense Potamogeton pectinatus L. community in a brackish lake showed that the amounts of P per unit area varied in the following order: Sediments > Above ground macrophytes > Detritus > Benthic Invertebrates > Below ground macrophyte tissue > Epiphytic algae > Water soluble P > Water borne particulate P. Seasonal changes in the variability of these stocks are described, and shown to be controlled by the annual growth and decomposition pattern of the Potamogeton. The sediments were suggested as the major source of P for the plant biomass. Studies using ³²P tracer showed that of a given input of P to the water, 32% went to large epiphytic algae, 17% to the Potamogeton, 16% to the benthic fauna (mostly filter feeding bivalves), 28% to the sediments (almost all incorporated in the top 1 cm), and the remaining 7% was adsorbed on to, or absorbed by microorganisms associated with detritus. Analysis of ³²P uptake curves indicated that of the P absorbed by the Potamogeton, a significant proportion went to the complex adnate periphyton on the leaf surface. We were unable to separate this fraction. Movement of P in the community was shown to be a closed cycle, and any release of P from decaying macrophytes would be rapidly reabsorbed by epiphytic algae. It is unlikely that phosphorus, once cycling in the macrophyte community, would become transferred to the circulation in the open lake.     

Cytogenetic findings in over 2000 amniocenteses.

Between 1971 and 1981, 58 (2.8%) of 2037 amniocenteses performed in Vancouver revealed chromosome abnormalities, 25 of which were trisomy 21. Of the 58 referrals that yielded abnormalities, 37 (63.8%) were for a maternal age of 38 years or more. The rates of detection of such abnormalities for single-year intervals of maternal age beyond 35 years were comparable to those calculated from pooled data obtained in multicentre studies in the United States, Canada and Europe.     

Morphological changes of Ascaris spp. eggs during their development outside the host

Information on the infective stage of Ascaris lumbricoides and the pathology caused by the parasite is widely available in the literature. However, information about early embryonic development of A. lumbricoides and its life cycle outside the host is limited. The purpose of this study was to describe the morphological changes within the developing embryo during incubation in vitro at 28 C, as well as to explore differences in egg viability during incubation. Ascaris suum eggs (4,000 eggs/ml), used as a model for A. lumbricoides , were placed for incubation in 0.1N H(2)SO(4) at 28 C in the dark for 21 days. Every day, sub-samples of approximately 100 A. suum eggs were taken from the incubation solution for microscopic evaluation. Development, morphological changes, and viability of the first 40 eggs were observed and documented with photos. During this study, 12 stages were identified in the developing embryo by standard microscopy, 2 of which had not been previously reported. By the end of the first wk, most developing embryos observed were in the late-morula stage (72.5%). On day 14 of incubation, 90% had developed to larva-1 stage, and by day 21, 100% had developed to larva-2 stage. No significant differences were found in the viability recorded in a continuum from day 5 to day 21 of incubation (chi-square, P > 0.05). The result of this study complements and expands the stages of development of Ascaris spp. outside the host previously reported in the literature. It also suggests the potential use of early stages of development of the nematode to determine viability and safety of sewage sludge, wastewater, or compost after treatment recommended by USEPA.