The composition of cholla gum

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Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

Whole genome analysis using genome-wide arrays, also called 'genomic arrays', 'microarrays' or 'arrays', has become the first-tier diagnostic test for patients with developmental abnormalities and/or intellectual disabilities. In addition to constitutional anomalies, genomic arrays are also used to diagnose acquired disorders. Despite the rapid implementation of these technologies in diagnostic laboratories, external quality control schemes (such as CEQA, EMQN, UK NEQAS for Clinical Cytogenetics, and the USA QA scheme CAP) and inter-laboratory comparisons show that there are huge differences in quality, interpretation and reporting amongst laboratories. We offer guidance to laboratories to help assure the quality of array experiments, to standardise minimum detection resolution, and we provide guidelines to standardise interpretation and reporting.status: publishe

Genome-Wide Arrays:Quality Criteria and Platforms to be Used in Routine Diagnostics

Whole-genome analysis using genome-wide arrays, also called "genomic arrays," "microarrays," or " arrays," has become the first-tier diagnostic test for patients with developmental abnormalities and/or intellectual disabilities. In addition to constitutional anomalies, genomic arrays are also used to diagnose acquired disorders. Despite the rapid implementation of these technologies in diagnostic laboratories, external quality control schemes (such as CEQA, EMQN, UK NEQAS, and the USA QA scheme CAP) and interlaboratory comparisons show that there are huge differences in quality, interpretation, and reporting among laboratories. We offer guidance to laboratories to help assure the quality of array experiments and to standardize minimum detection resolution, and we also provide guidelines to standardize interpretation and reporting. Hum Mutat 33: 906-915, 2012. (C) 2012 Wiley Periodicals, Inc

A Ribonuclease III Domain Protein Functions in Group II Intron Splicing in Maize Chloroplasts[W]

Chloroplast genomes in land plants harbor ∼20 group II introns. Genetic approaches have identified proteins involved in the splicing of many of these introns, but the proteins identified to date cannot account for the large size of intron ribonucleoprotein complexes and are not sufficient to reconstitute splicing in vitro. Here, we describe an additional protein that promotes chloroplast group II intron splicing in vivo. This protein, RNC1, was identified by mass spectrometry analysis of maize (Zea mays) proteins that coimmunoprecipitate with two previously identified chloroplast splicing factors, CAF1 and CAF2. RNC1 is a plant-specific protein that contains two ribonuclease III (RNase III) domains, the domain that harbors the active site of RNase III and Dicer enzymes. However, several amino acids that are essential for catalysis by RNase III and Dicer are missing from the RNase III domains in RNC1. RNC1 is found in complexes with a subset of chloroplast group II introns that includes but is not limited to CAF1- and CAF2-dependent introns. The splicing of many of the introns with which it associates is disrupted in maize rnc1 insertion mutants, indicating that RNC1 facilitates splicing in vivo. Recombinant RNC1 binds both single-stranded and double-stranded RNA with no discernible sequence specificity and lacks endonuclease activity. These results suggest that RNC1 is recruited to specific introns via protein–protein interactions and that its role in splicing involves RNA binding but not RNA cleavage activity