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The Gaia Science Alerts project (GSA) aims to augment a precision survey of the Milky Way with a controlled, precision survey of all classes of transient phenomena. While onboard BP/RP spectra from Gaia will ultimately allow us to classify many Gaia Alerts based on Gaia data alone, in the initial phases of the GSA project it is necessary to verify and classify discoveries with ground-based spectroscopic followup. In this article, we describe a subset of the ongoing Gaia Alerts followup programmes, and some of the initial science results from this work.
We report a branch site mutation in the gene of the enzyme tyrosine hydroxylase (TH): a −24t
> a substitution two bases upstream of the adenosine in the branchpoint sequence (BPS) of intron
11. As normal lariat formation is therefore prevented, alternative splicing takes place: use of the BPS
of intron 12 results in skipping of exon 12, whereas the use of a cryptic branch site in intron 11 leads
to partial retention of this intron in the mRNA. This leads in both cases to an aberrant protein
product. In the one case, skipping of exon 12 results in the absence of 32 amino acids. In the other,
retention of 36 nucleotides of intron 11 in the mRNA results in the incorporation of twelve additional
amino acids. The functional consequences of this mutation for the patient, who is also heterozygous
for another previously identified mutation, become apparent in a severe clinical phenotype.
Radiolarian and calpionellid dating establish a significant
sedimentary hiatus within a reduced
pelagic sequence of the central part of the Ionian zone (western Greece).
Bottom-current activity probably
decreased during the Oxfordian, allowing encroachment of radiolarian-rich
sediments onto a Jurassic high (at
Kato Kouklessi), and then increased again during Kimmeridgian–Tithonian
time. The onset of Vigla Limestone
sedimentation is diachronous within the Ionian zone, spanning late Tithonian
various levels of early
Berriasian time. This diachroneity can be explained by dispersal of fine-grained
sediment by current activity.
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