56 research outputs found
Meltwater produced by wind–albedo interaction stored in an East Antarctic ice shelf
Surface melt and subsequent firn air depletion can ultimately
lead to disintegration of Antarctic ice shelves1,2 causing
grounded glaciers to accelerate3 and sea level to rise. In
the Antarctic Peninsula, foehn winds enhance melting near
the grounding line4, which in the recent past has led to the
disintegration of the most northerly ice shelves5,6. Here, we
provide observational and model evidence that this process
also occurs over an East Antarctic ice shelf, where meltwaterinduced
firn air depletion is found in the grounding zone.
Unlike the Antarctic Peninsula, where foehn events originate
from episodic interaction of the circumpolar westerlies with
the topography, in coastal East Antarctica high temperatures
are caused by persistent katabatic winds originating from the
ice sheet’s interior. Katabatic winds warm and mix the air
as it flows downward and cause widespread snow erosion,
explaining >3 K higher near-surface temperatures in summer
and surface melt doubling in the grounding zone compared with
its surroundings. Additionally, these winds expose blue ice and
firn with lower surface albedo, further enhancing melt. The
in situ observation of supraglacial flow and englacial storage
of meltwater suggests that ice-shelf grounding zones in East
Antarctica, like their Antarctic Peninsula counterparts, are
vulnerable to hydrofracturing7
Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers
<p>Abstract</p> <p>Background</p> <p>Depending on the population studied, large genomic rearrangements (LGRs) of the mismatch repair (<it>MMR</it>) genes constitute various proportions of the germline mutations that predispose to hereditary non-polyposis colorectal cancer (HNPCC). It has been reported that loss of heterozygosity (LOH) at the LGR region occurs through a gene conversion mechanism in tumors from <it>MLH1</it>/<it>MSH2 </it>deletion carriers; however, the converted tracts were delineated only by extragenic microsatellite markers. We sought to determine the frequency of LGRs in Slovak HNPCC patients and to study LOH in tumors from LGR carriers at the LGR region, as well as at other heterozygous markers within the gene to more precisely define conversion tracts.</p> <p>Methods</p> <p>The main <it>MMR </it>genes responsible for HNPCC, <it>MLH1</it>, <it>MSH2</it>, <it>MSH6</it>, and <it>PMS2</it>, were analyzed by MLPA (multiplex ligation-dependent probe amplification) in a total of 37 unrelated HNPCC-suspected patients whose <it>MLH1/MSH2 </it>genes gave negative results in previous sequencing experiments. An LOH study was performed on six tumors from LGR carriers by combining MLPA to assess LOH at LGR regions and sequencing to examine LOH at 28 SNP markers from the <it>MLH1 </it>and <it>MSH2 </it>genes.</p> <p>Results</p> <p>We found six rearrangements in the <it>MSH2 </it>gene (five deletions and dup5-6), and one aberration in the <it>MLH1 </it>gene (del5-6). The <it>MSH2 </it>deletions were of three types (del1, del1-3, del1-7). We detected LOH at the LGR region in the single <it>MLH1 </it>case, which was determined in a previous study to be LOH-negative in the intragenic D3S1611 marker. Three tumors displayed LOH of at least one SNP marker, including two cases that were LOH-negative at the LGR region.</p> <p>Conclusion</p> <p>LGRs accounted for 25% of germline <it>MMR </it>mutations identified in 28 Slovakian HNPCC families. A high frequency of LGRs among the <it>MSH2 </it>mutations provides a rationale for a MLPA screening of the Slovakian HNPCC families prior scanning by DNA sequencing. LOH at part of the informative loci confined to the <it>MLH1 </it>or <it>MSH2 </it>gene (heterozygous LGR region, SNP, or microsatellite) is a novel finding and can be regarded as a partial LOH. The conversion begins within the gene, and the details of conversion tracts are discussed for each case.</p
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
Hospital mortality rate and length of stay in patients admitted at night to the intensive care unit
Genome-wide scanning for linkage in 56 Dutch breast cancer families selected for a minimal probability of being due to BRCA1 or BRCA2
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