79 research outputs found

    A white humpback whale (Megaptera novaeangliae) in the Atlantic Ocean, Svalbard, Norway, August 2012

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    A white humpback whale (Megaptera novaeangliae) was observed on several occasions off Svalbard, Norway, during August 2012. The animal was completely white, except for a few small dark patches on the ventral side of its fluke. The baleen plates were light-coloured, but the animal's eyes had normal (dark) colouration. This latter characteristic indicates that the animal was not an albino; it was a leucistic individual. The animal was a full-sized adult and was engaged in “bubble-feeding”, together with 15–20 other humpback whales, each time it was seen. Subsequent to these sightings, polling of the marine mammal science community has resulted in the discovery of two other observations of white humpback whales in the Barents Sea area, one in 2004 and another in 2006; in both cases the observed individuals were adult animals. It is likely that all of these sightings are of the same individual, but there is no genetic or photographic evidence to confirm this suggestion. The rarity of observations of such white individuals suggests that they are born at very low frequencies or that the ontogenetic survival rates of the colour morph are low

    The Cult Statues of the Pantheon

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    This article reconsiders the possible statuary of the Pantheon in Rome, both in its original Augustan form and in its later phases. It argues that the so-called ‘Algiers Relief’ has wrongly been connected with the Temple of Mars Ultor and is in fact evidence of the association of the Divus Julius with Mars and Venus in the Pantheon of Agrippa, a juxtaposition which reflects the direction of Augustan ideology in the 20s b.c. and the building's celestial purpose. This triple statue group became the focus of the later Pantheon, and its importance is highlighted by the hierarchized system of architectural ornament of the present building

    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

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    During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain-of-function mutations in CDKN1C. POLE1-deficient individuals also exhibited distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency. All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. The intronic variant alters splicing, and together the biallelic mutations lead to cellular deficiency of Pol ε and delayed S-phase progression. In summary, we establish POLE as a second gene in which mutations cause IMAGe syndrome. These findings add to a growing list of disorders due to mutations in DNA replication genes that manifest growth restriction alongside adrenal dysfunction and/or immunodeficiency, consolidating these as replisome phenotypes and highlighting a need for future studies to understand the tissue-specific development roles of the encoded proteins

    Key steps for effective breast cancer prevention

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    Multi-ocean distribution of a brooding predator in the abyssal benthos

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    Abstract How far are species distributed on the abyssal plains? Spanning from 3000 to 6000 m below sea level, abyssal plains cover three-quarters of the ocean floor and are the largest but also least explored habitat on Earth. The question of vertical and horizontal distribution is central to understanding biogeographic and population genetic processes within species inhabiting the deep-sea benthos. Amphipod crustaceans are an important and dominant taxon in this ecosystem. As they are brooders, their dispersal capacities are more limited compared to species with free-swimming larvae, and with the exception of a few scavenging species deep-sea amphipods are restricted to a single ocean. Based on an integrative taxonomic approach (morphology, COI, 16S and 18S) we demonstrate the occurrence of a predatory amphipod species, Rhachotropis abyssalis, in three oceans: the Antarctic Ross Sea, the Northwest Pacific and the North Atlantic; regions more than 20,000 km apart. Although such extensive geographic distributions may represent a rare exception for brooding predators, these findings might also be no exception at all, but a reflection of the rare sampling and rare taxonomic investigation of invertebrate predators in the deep-sea. Our findings highlight our abysmal state of knowledge regarding biodiversity and biogeography on abyssal plains

    Correspondence

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    A white humpback whale (Megaptera novaeangliae) was observed on several occasions off Svalbard, Norway, during August 2012. The animal was completely white, except for a few small dark patches on the ventral side of its fluke. The baleen plates were light-coloured, but the animal’s eyes had normal (dark) colouration. This latter characteristic indicates that the animal was not an albino; it was a leucistic individual. The animal was a full-sized adult and was engaged in ‘‘bubble-feeding’’, together with 15 20 other humpback whales, each time it was seen. Subsequent to these sightings, polling of the marine mammal science community has resulted in the discovery of two other observations of white humpback whales in the Barents Sea area, one in 2004 and another in 2006; in both cases the observed individuals were adult animals. It is likely that all of these sightings are of the same individual, but there is no genetic or photographic evidence to confirm this suggestion. The rarity of observations of such white individuals suggest
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