Variation in Array Size, Monomer Composition and Expression of the Macrosatellite DXZ4

Macrosatellites are some of the most polymorphic regions of the human genome, yet many remain uncharacterized despite the association of some arrays with disease susceptibility. This study sought to explore the polymorphic nature of the X-linked macrosatellite DXZ4. Four aspects of DXZ4 were explored in detail, including tandem repeat copy number variation, array instability, monomer sequence polymorphism and array expression. DXZ4 arrays contained between 12 and 100 3.0 kb repeat units with an average array containing 57. Monomers were confirmed to be arranged in uninterrupted tandem arrays by restriction digest analysis and extended fiber FISH, and therefore DXZ4 encompasses 36–288 kb of Xq23. Transmission of DXZ4 through three generations in three families displayed a high degree of meiotic instability (8.3%), consistent with other macrosatellite arrays, further highlighting the unstable nature of these sequences in the human genome. Subcloning and sequencing of complete DXZ4 monomers identified numerous single nucleotide polymorphisms and alleles for the three microsatellite repeats located within each monomer. Pairwise comparisons of DXZ4 monomer sequences revealed that repeat units from an array are more similar to one another than those originating from different arrays. RNA fluorescence in situ hybridization revealed significant variation in DXZ4 expression both within and between cell lines. DXZ4 transcripts could be detected originiating from both the active and inactive X chromosome. Expression levels of DXZ4 varied significantly between males, but did not relate to the size of the array, nor did inheritance of the same array result in similar expression levels. Collectively, these studies provide considerable insight into the polymorphic nature of DXZ4, further highlighting the instability and variation potential of macrosatellites in the human genome

Geophysical investigations in the Flumendosa River Delta, Sardinia (Italy) — Seismic reflection imaging

A geophysical investigation that included seismic-reflection surveying and time-domain electromagnetics (EM) was carried out in the Flumendosa River Delta plain in southeastern Sardinia, Italy. The objective was to improve knowledge of geologic and hydrogeologic controls on a highly productive aquifer hosted in thick Quaternary deposits and known to be affected by an extensive saltwater intrusion. The seismic reflection survey, whose results are reported here, aimed to image the Paleozoic bedrock topography and to obtain detailed structural and stratigraphic information on the sequence of largely fluvial sediments extending from the surface down to bedrock. The survey consisted of two inline profiles, nearly parallel to the coastline and 1 km inland. The sources (0.25 kg of explosives buried at 2 m depth) and receivers (50-Hz vertical geophones) produced a twelvefold data set with common midpoints every 2.5 m. Detailed integrated velocity analysis (constant velocity gathers, constant velocity stacks, and semblance plots) and frequency-wavenumber-domain dip moveout (DMO) proved to be the most important processing steps in producing the two stacked sections. Both sections were characterized by distinct seismic units bounded by quasi-continuous reflectors. The lowermost reflection, imaged on section 1 at two-way traveltimes between 310 ms (~300 m) and 580 ms (~530 m) and on section 2 between 200 ms (~190 m) and 65 ms (~52 m), was interpreted to be Paleozoic bedrock. A maximum depth twice as deep as expected was the primary and somewhat surprising result. Imaging of oblique progradational facies — another major finding — proved the existence of undocumented marine Pleistocene sediments that could help in revising the area's geology