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1.
Sci Total Environ ; 568: 457-469, 2016 Oct 15.
Article in English | MEDLINE | ID: mdl-27314899

ABSTRACT

Many karst regions are undergoing rapid population growth and expansion of urban land accompanied by increases in wastewater generation and changing patterns of nitrate (NO3(-)) loading to surface and groundwater. We investigate variability and sources of NO3(-) in a regional karst aquifer system, the Edwards aquifer of central Texas. Samples from streams recharging the aquifer, groundwater wells, and springs were collected during 2008-12 from the Barton Springs and San Antonio segments of the Edwards aquifer and analyzed for nitrogen (N) species concentrations and NO3(-) stable isotopes (δ(15)N and δ(18)O). These data were augmented by historical data collected from 1937 to 2007. NO3(-) concentrations and discharge data indicate that short-term variability (days to months) in groundwater NO3(-) concentrations in the Barton Springs segment is controlled by occurrence of individual storms and multi-annual wet-dry cycles, whereas the lack of short-term variability in groundwater in the San Antonio segment indicates the dominance of transport along regional flow paths. In both segments, longer-term increases (years to decades) in NO3(-) concentrations cannot be attributed to hydrologic conditions; rather, isotopic ratios and land-use change indicate that septic systems and land application of treated wastewater might be the source of increased loading of NO3(-). These results highlight the vulnerability of karst aquifers to NO3(-) contamination from urban wastewater. An analysis of N-species loading in recharge and discharge for the Barton Springs segment during 2008-10 indicates an overall mass balance in total N, but recharge contains higher concentrations of organic N and lower concentrations of NO3(-) than does discharge, consistent with nitrification of organic N within the aquifer and consumption of dissolved oxygen. This study demonstrates that subaqueous nitrification of organic N in the aquifer, as opposed to in soils, might be a previously unrecognized source of NO3(-) to karst groundwater or other oxic groundwater systems.

2.
Am J Hum Genet ; 66(3): 1138-44, 2000 Mar.
Article in English | MEDLINE | ID: mdl-10712224

ABSTRACT

Rec8 syndrome (also known as "recombinant 8 syndrome" and "San Luis Valley syndrome") is a chromosomal disorder found in individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have mental retardation, congenital heart defects, seizures, a characteristic facial appearance, and other manifestations. The recombinant chromosome is rec(8)dup(8q)inv(8)(p23.1q22.1), and is derived from a parental pericentric inversion, inv(8)(p23.1q22.1). Here we report on the cloning, sequencing, and characterization of the 8p23.1 and 8q22 breakpoints from the inversion 8 chromosome associated with Rec8 syndrome. Analysis of the breakpoint regions indicates that they are highly repetitive. Of 6 kb surrounding the 8p23.1 breakpoint, 75% consists of repetitive gene family members-including Alu, LINE, and LTR elements-and the inversion took place in a small single-copy region flanked by repetitive elements. Analysis of 3.7 kb surrounding the 8q22 breakpoint region reveals that it is 99% repetitive and contains multiple LTR elements, and that the 8q inversion site is within one of the LTR elements.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Breakage/genetics , Chromosome Inversion , Chromosomes, Human, Pair 8/genetics , Physical Chromosome Mapping , Recombination, Genetic/genetics , Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Alu Elements/genetics , Animals , Base Sequence , Cell Line , Child, Preschool , Cloning, Molecular , Colorado , Cricetinae , DNA Mutational Analysis , Female , Humans , Infant, Newborn , Karyotyping , Long Interspersed Nucleotide Elements/genetics , Male , Molecular Sequence Data , New Mexico , Syndrome , Terminal Repeat Sequences/genetics
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