Temporal variation in egg-capsule deposition by Nassarius vibex (Gastropoda: Nassariidae)

The morphology and the deposition periods of egg capsules by the bruised nassa Nassarius vibex were investigated on two beaches located on the southeast coast of Brazil. The nassariids were associated with the charru mussel Mytella charruana, which forms beds on soft mud-bottoms. A total of 1558 capsules were collected, only from the fronds of the green alga Ulva lactuca, 859 for Camaroeiro Beach and 699 for Cidade Beach. The mean sizes of the egg capsules and numbers of eggs or larvae per capsule were similar on the two beaches, as were the periods of capsule deposition. At Camaroeiro Beach, capsules first appeared in May 2006, reached a peak in August 2006, and disappeared in December 2006. At Cidade Beach, the first capsules were recorded in July 2006, with a peak in August 2006. A second peak was also observed at this beach between January 2007 and April 2007. The two periods of deposition recorded at the latter beach may indicate two periods of recruitment in the same year for N. vibex. Regarding the influence of intertidal level on capsule deposition, there was a significant difference in the number of capsules between the levels at Camaroeiro Beach (F= 7.445, p<0.05), and for the second capsule-deposition peak at Cidade Beach (F= 6.382, p<0.05). This study revealed a selective pattern of capsule deposition, with individuals of N. vibex using only fronds of U. lactuca. This process was influenced by the morphodynamics of the two beaches, with the nassariids maximizing the survival of embryos by depositing more capsules and more eggs per capsule in better-protected parts of the mytilid beds.

Investigating South American biogeographic history using patterns of skull shape variation on Cerdocyon thous (Mammalia: Canidae)

Patterns of geographic variation of the canid Cerdocyon thous have historically been obscured by its remarkable intraspecific morphological variability. The observed distribution is highly associated with phytophysiognomy, a feature considered highly dynamic along geological time. In the present study, we tested whether vegetation distribution during the Holocene Glacial Maximum of South America (HGM) explains the patterns of morphological variation within Cerdocyon thous. The species was divided in groups according to paleohabitats that could support their presence during the HGM, and then tested for differences in skull morphometrics. The results obtained demonstrate that the climatic changes during the HGM influenced the population structure of this species, resulting in the establishment of geographical groups with different degrees of morphological cohesion. Higher morphological cohesion found in the Northern group might be explained by the marked discontinuity between its geographical range and the rest of the species`distribution. The Eastern and Southern morphological divergence is less striking and, although this could be related to past vegetation distribution, the disappearance of those barriers leads to a population structure that could be slowly breaking down. (C) 2009 The Linnean Society of London, Biological Journal of the Linnean Society, 2009, 98, 77-84.

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvement of regulatory variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in the heart and limb development that has been associated with the HoltOram syndrome (hearthand syndrome), a condition that affects 1/100 000 newborns. Using a combination of genomics, bioinformatics and mouse genetic engineering, we scanned approximate to 700 kb of the TBX5 locus in search of cis-regulatory elements. We uncovered three enhancers that collectively recapitulate the endogenous expression pattern of TBX5 in the developing heart. We re-sequenced these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricular septal defects, the predominant cardiac defects of the HoltOram syndrome, and identified a patient with a homozygous mutation in an enhancer approximate to 90 kb downstream of TBX5. Notably, we demonstrate that this single-base-pair mutation abrogates the ability of the enhancer to drive expression within the heart in vivo using both mouse and zebrafish transgenic models. Given the population-wide frequency of this variant, we estimate that 1/100 000 individuals would be homozygous for this variant, highlighting that a significant number of CHD associated with TBX5 dysfunction might arise from non-coding mutations in TBX5 heart enhancers, effectively decoupling the heart and hand phenotypes of the HoltOram syndrome.

Lack of COI variation for Clavelina oblonga (Tunicata, Ascidiacea) in Brazil: Evidence for its human-mediated transportation?

Recent studies indicate that ascidians are efficiently dispersed by human transport. We have chosen the mitochondrial gene cytochrome c oxidase subunit I (COI) to address whether Clavelina oblonga is an introduced species in the Brazilian coast. Colonies of C. oblonga were sampled in different localities along Atlantic coasts of USA, Panama, and Brazil. The sequencing of 92 colonies resulted in three haplotypes for the species, two unique to Florida and the other shared by exemplars collected in Brazil and Panama; the latter haplotype is identical to the published sequence of Azores. Our evidence, including the absence of C. oblonga in the country's northern tropical waters, its association with artificial habitats and lack of COI variation suggest that the species has been introduced in the southeastern and southern Brazilian coasts. Previous records (85 years old) suggest that it could be a relatively long-term introduction.

Biotic versus abiotic pollination in Oeceoclades maculata (Lindl.) Lindl. (Orchidaceae)

Geographical variation in the reproductive biology of widespread species often occurs at their distributional boundaries. We sought to determine whether such variation has occurred in an invasive orchid, Oeceoclades maculata, across its naturalized range. We compared its reproductive biology in a Brazilian population with that published for a population on the Caribbean island of Puerto Rico. In the state of Sao Paulo, O. maculata flowers between December and February, at the height of the rainy season. Similar fruit sets were observed in manual self (76%) and cross (70.4%) pollination treatments. The fruit set of plants protected from both pollinators and rainfall was 6.1%, whereas plants exposed only to rainfall had a fruit set of 41.4%, slightly less than the controls (48.3%). Like the Puerto Rico population, reproduction is primarily through rain-assisted autogamy, but unlike observations made on the island, outcrossing can eventually occur. We observed two butterfly species (Heliconius ethilla narcaea and Heliconius erato phyllis) pollinating O. maculata. Secretory epidermal cells and trichomes of the spur lumen produced 0.7 mu L of 25% (sucrose equivalents) nectar per flower each morning, which was stored in a dilated basal portion of the spur and reabsorbed by the afternoon. Thus, geographical variation in reproductive biology exists across the broad invasive range of O. maculata.

Spatial-temporal variation of Paralonchurus brasiliensis (Actinopterygii: Sciaenidae) density in relation to some environmental factors on the inner shelf of south-eastern Brazilian coast

The temporal and spatial variation of Paralonchurus brasiliensis density (fish per m(2)) in relation to environmental factors was studied on the coasts of Ubatuba and Caraguatatuba, south-eastern Brazil. The fish were collected by shrimp fishery trawl on a monthly basis from January to December, 2002. Seven depths were previously established and for each one the temperature, salinity, organic matter content and grain size of the sediment (phi) was measured. The seasonal analysis of temperature and salinity indicated the presence of the water masses South Atlantic Central Water (SACW) and Coastal Waters (CW) acting in the study area. A total of 29,808 fish were collected during the study period. The highest densities were registered during the summer and autumn indicating an association with CW. The fish population moved to shallow depths during the intrusion of the cold water mass, SACW. The highest densities were registered in depths where the sediment composition ranged from fine sand to silt-clay. Thus, the temperature and type of the sediment are the main environmental factors which affect the spatial-temporal variation of P. brasiliensis density in south-eastern Brazil.

A molecular linkage map for Drosophila mediopunctata confirms synteny with Drosophila melanogaster and suggests a region that controls the variation in the number of abdominal spots

The classic approach to gene discovery relies on the construction of linkage maps. We report the first molecular-based linkage map for Drosophila mediopunctata, a neotropical species of the tripunctata group. Eight hundred F2 individuals were genotyped at 49 microsatellite loci, resulting in a map that is approximate to 450 centimorgans long. Five linkage groups were detected, and the species' chromosomes were identified through cross-references to BLASTn searches and Muller elements. Strong synteny was observed when compared with the Drosophila melanogaster chromosome arms, but little conservation in the gene order was seen. The incorporation of morphological data corresponding to the number of central abdominal spots on the map was consistent with the expected location of a genomic region responsible for the phenotype on the second chromosome.

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.

Variation in DNA repair gene XRCC3 affects susceptibility to astrocytomas and glioblastomas

The gene XRCC3 (X-ray cross complementing group 3) has the task of repairing damage that occurs when there is recombination between homologous chromosomes. Repair of recombination between homologous chromosomes plays an important role in maintaining genome integrity, although it is known that double-strand breaks are the main inducers of chromosomal aberrations. Changes in the XRCC3 protein lead to an increase in errors in chromosome segregation due to defects in centrosomes, resulting in aneuploidy and other chromosomal aberrations, such as small increases in telomeres. We examined XRCC3 Thr241Met polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. The individuals of the control group (N = 100) were selected from the general population of the Sao Paulo State. Odds ratio and 95%CI were calculated using a logistic regression model. Patients who had the allele Met of the XRCC3 Thr241Met polymorphism had a significantly increased risk of tumor development (odds ratio = 3.13; 95% confidence interval = 1.50-6.50). There were no significant differences in overall survival of patients. We suggest that XRCC3 Thr241Met polymorphism is involved in susceptibility for developing astrocytomas and glioblastomas.

Genetic variability in mitochondrial and nuclear genes of Larus dominicanus (Charadriiformes, Laridae) from the Brazilian coast

Several phylogeographic studies of seabirds have documented low genetic diversity that has been attributed to bottleneck events or individual capacity for dispersal. Few studies have been done in seabirds on the Brazilian coast and all have shown low genetic differentiation on a wide geographic scale. The Kelp Gull is a common species with a wide distribution in the Southern Hemisphere. In this study, we used mitochondrial and nuclear markers to examine the genetic variability of Kelp Gull populations on the Brazilian coast and compared this variability with that of sub-Antarctic island populations of this species. Kelp Gulls showed extremely low genetic variability for nnitochondrial markers (cytb and ATPase) and high diversity for a nuclear locus (intron 7 of the beta-fibrinogen). The intraspecific evolutionary history of Kelp Gulls showed that the variability found in intron 7 of the beta-fibrinogen gene was compatible with the variability expected under neutral evolution but suggested an increase in population size during the last 10,000 years. However, none of the markers revealed evidence of a bottleneck population. These findings indicate that the recent origin of Kelp Gulls is the main explanation for their nuclear diversity, although selective pressure on the mtDNA of this species cannot be discarded.

On wing disparity and morphological variation of the Santana Group pterosaurs

Pterosaurs were widely spread throughout the Mesozoic Era, populating the whole world. Among this great diversity, two groups are commonly found in Brazil: the Anhangueridae and Tapejaridae. These can be mainly identified by cranial synapomorphies. However, because of the fragility of the pterosaur skeleton and rarity of the fossilisation process, the fossils found are usually incomplete, which hampers a proper taxonomic identification of the specimens. The specific proportions of these two groups of pterosaurs were obtained from bibliographic data and measurements of specimens. Eight Anhangueridae-like and seven Tapejaridae were used: Anhanguera piscator, Anhanguera santanae, Anhanguera spielbergi, Araripesaurus castilhoi, Barbosania gracilisrostris and three Anhangueridae sp. indet.; Sinopterus dongi, Tapejara wellnhoferi and five Tapejaridae sp. indet. We find that proportions of the humerus, wing metacarpal, first phalanx of the wing digit, femur and tibia are sufficient to identify partial remains of Araripe pterosaurs. A principal component analysis shows that each clade has different, non-overlapping scores in the studied ratios and these can be used with precision. Specific bone ratios for fast identification of anhanguerids and tapejarids are given, opening a broader way to diagnostic fragmentary bones.

Interannual variation in commercial oyster (Crassostrea gigas) farming in the sea (Florianopolis, Brazil, 27 degrees 44 ' S; 48 degrees 33 ' W) in relation to temperature, chlorophyll a and associated oceanographic conditions

Aquaculture of filter-feeding bivalve mollusks involves the fruitful conversion of marine particulate organic matter into premium protein of high nutritive value. Culture performance of bivalves is largely dependent on hydrological conditions and directly affected by e. g. temperature and chlorophyll levels. Accordingly, these parameters may be related with seasonality but also with oceanographic features combined with climate events. Yields of Pacific cupped oyster (Crassostrea gigas) reared at commercial procedures in suspended structures (long-lines) in a sheltered bay in Southern Brazil (Santa Catarina State, 27S 43'; 48 W 30') were evaluated in relation to local environmental conditions: sea surface temperature, chlorophyll a concentration, and associate effects of cold fronts events and El Nino and La Nina periods. Outputs from four consecutive commercial crop years were analyzed (2005/06, 2006/07, 2007/08, 2008/09) in terms of oyster survival and development time during the following grow-out phases of the culture cycle: seed to juvenile, juvenile to adult, adult to marketable. Since culture management and genetics were standardized significant differences verified among crop performance could be mostly related to environmental effects. Time series of temperature and chlorophyll a (remote sensing data) from crop periods displayed significant seasonal and interannual variation. As expected, performance during initial grow-out stages (seed to juvenile) was critical for final crop yield. Temperature was the main factor affecting survival in these initial stages with a trend of negative correlation, though not statistically significant. On the other hand, oyster development rate was significantly and positively affected by chlorophyll a concentration. Chlorophyll a values could be increased by upwelled cold nutrient-rich South Atlantic Central Water (SACW, related to predominant Northern winds) though further dependent on occurrence of Southern winds (cold fronts) to assist seawater penetration into the sheltered farming area. Lower salinity nutrient-rich northward drifted waters from La Plata River discharge may also result in chlorophyll a rise in the farming area. The El Nino period (July 2006 to February 2007) coincided with lower chlorophyll a levels in the farming site that may be related to both decreased number of cold fronts as well as predominance of Northern winds that retain northward spreading of La Plata River discharge waters. In contrast, the La Nina period (August 2007 to June 2008) corresponded to higher chlorophyll a values in the farming area by both upwelling of SACW and penetration of La Plata River discharge water assisted by increased occurrence of Southern winds and cold fronts. The recognition of the potentially changing climate and effects upon the environment will be an important step in planning future development of bivalve aquaculture.

The Panama microplate, island studies and relictual species of Melipona (Melikerria) (Hymenoptera: Apidae: Meliponini)

The endemic stingless honey-making bee Melipona (Melikerria) insularissp.n. on Coiba and Rancheria Islands in Pacific Panama is described, together with the proposed sister species, M. ambigua sp.n. from northeast Colombia. The Coiba Island group and Panama mainland were surveyed, yielding one meliponine endemic (M. insularissp.n.) and six meliponine genera and species. The poor Coiba fauna of amphibians and birds corresponds to the poor social bee fauna and suggests habitat barriers generally precluded recolonization from the mainland during glacial periods. Many animals became extinct, yet some remain as relicts. Melipona insularissp.n. was isolated on accreted terranes of Coiba rainforest in the Panama microplate. Morphology suggests that M. insularissp.n. is not a direct descendant of the San Blas-E. Panama endemic Melikerria, M. triplaridis. A phylogenetic hypothesis corroborates disjunct distributions. Rainforest endemics such as Peltogyne purpurea (Fabaceae) and Ptilotrigona occidentalis (Apidae, Meliponini) also occur as relictual, disjunct populations in Central and South America. These may have been isolated before accelerated biotic exchange began 2.4 Ma. Our work supports the geological findings of both a volcanic arc and the San Blas massif providing a substantial bridge for Melikerria from Colombia and Panama in Eocene to Miocene times. We suggest there have been taxon cycles permitting recolonization during glaciations, whereby colonies of M. insularissp.n. were able to recolonize Rancheria, a 250 ha island, 2 km from Coiba. However, rafting colonies nesting in trees, carried on vegetation mats, may have produced founding populations of Melipona in Central America and on oceanic islands such as Coiba.

Composition and Seasonal Variation of Brachyura and Anomura (Crustacea, Decapoda) Associated with Brown Mussel Farms at Praia da Cocanha, Brazil

The composition and seasonal variation of brachyuran and anomuran species associated with mussel farms were evaluated at Praia da Cocanha, Sao Paulo between May 2007 and February 2008. Nine mussel ropes were sampled at random in each quarter, and 1,208 organisms were identified, comprising five families and 28 species. The most numerous species was the porcellanid Pachycheles laevidactylus (18.5%), followed by the xanthids Acantholobulus schmitti (16.6%), Hexapanopeus paulensis (11.3%), Panopeus americanus (10.2%), and Menippe nodifrons (8.4%). The exotic crab Charybdis hellerii was recorded throughout the study period. The ecological descriptors, except Pielou evenness index, varied significantly over the time. The highest abundance and diversity of the species were recorded during November and February. This pattern was reversed for Berger-Parker dominance, with the lowest values recorded in February. The development of epifauna was correlated with the different stages of the mussel farms, since the mean size of mussels and consequently the abundance of epibiotic organisms and the structural complexity on the mussel ropes increased from May (seeding) until February (harvest). Despite this, the temporal population variations in recruitment patterns of the different epibionts should not be overlooked. The results indicated that the mussel farms provided favorable conditions for the development of these crustacean groups, which could be used in environmental monitoring programs and / or be exploited for the aquarium trade.

Composition and seasonal variation of brachyura and anomura (Crustacea, Decapoda) associated with brown mussel farms at Praia da Cocanha, Brazil

The composition and seasonal variation of brachyuran and anomuran species associated with mussel farms were evaluated at Praia da Cocanha, São Paulo between May 2007 and February 2008. Nine mussel ropes were sampled at random in each quarter, and 1,208 organisms were identified, comprising five families and 28 species. The most numerous species was the porcellanid Pachycheles laevidactylus (18.5%), followed by the xanthids Acantholobulus schmitti (16.6%), Hexapanopeus paulensis (11.3%), Panopeus americanus (10.2%), and Menippe nodifrons (8.4%). The exotic crab Charybdis hellerii was recorded throughout the study period. The ecological descriptors, except Pielou evenness index, varied significantly over the time. The highest abundance and diversity of the species were recorded during November and February. This pattern was reversed for Berger-Parker dominance, with the lowest values recorded in February. The development of epifauna was correlated with the different stages of the mussel farms, since the mean size of mussels and consequently the abundance of epibiotic organisms and the structural complexity on the mussel ropes increased from May (seeding) until February (harvest). Despite this, the temporal population variations in recruitment patterns of the different epibionts should not be overlooked. The results indicated that the mussel farms provided favorable conditions for the development of these crustacean groups, which could be used in environmental monitoring programs and / or be exploited for the aquarium trade.