Getting by at the Benjamin Mays Black Branch: Library Access for African Americans in Jim Crow South Carolina, 1940-1971

This thesis examines a chapter of South Carolina history that has been neglected in the historical record, namely segregated libraries of the twentieth century. Previous works have covered the history of black libraries in the entire South, but details of South Carolina\u27s segregated libraries are incomplete. This study looks first at the broader context of segregated libraries in the American South and then reviews the history of African American libraries in South Carolina. Finally, this study provides a case study of the Benjamin Mays Library, a segregated, African American library in Greenwood, South Carolina. The case study uses primary source documents and oral history interviews to establish the library\u27s background and history, with a focus on progress toward integration. The record of this library and the broader background on South Carolina\u27s black libraries will illustrate that there was no one single catalyst for black library establishment in South Carolina. Rather several agents developed and maintained segregated libraries throughout the state until desegregation in the 1960s and 1970s

TRY plant trait database – enhanced coverage and open access

Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci 47

PURPOSE. To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations. METHODS. All coding exons of the FOXC1 and PITX2 genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by restriction fragment length polymorphism (RFLP) analysis. RESULTS. Sequence variants were identified by DNA sequencing in 15 of 19 cases. Mutation screening identified four potentially pathogenic FOXC1 mutations causing amino acid substitutions (P79R, Y115S, G149D, and M161V) that were not present in 100 control subjects. In addition, two different 1-bp deletions causing a frameshift and subsequent premature stop codon were identified in two subjects. One patient harbored a FOXC1 nonsense mutation (S48X). Mutation screening also identified two potentially pathogenic PITX2 mutations (P64L and P64R) in two index patients that were excluded in 100 healthy control subjects. CONCLUSIONS. The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany. (Invest Ophthalmol Vis Sci. 2006;47:3846 -3852) DOI:10.1167/iovs.06-0343 A xenfeld-Rieger (AR) malformations comprise a series of clinically and genetically heterogeneous conditions. Affected individuals display a spectrum of classic ocular anomalies such as iris hypoplasia; a prominent Schwalbe line; adhesion of iris and cornea, microcornea, and corneal opacity, and increased intraocular pressure (IOP). In addition to the ocular phenotype, systemic features may also be associated with the disorder, including maxillary hypoplasia, hypodontia, microdontia, umbilical abnormalities, hearing defects, and congenital cardiac or kidney abnormalities. 1 These syndromic features are seen with incomplete penetrance and variable expressivity. Because of the severe changes in eye morphology, glaucoma develops in roughly half of all patients. The mode of inheritance is autosomal dominant and the incidence of the disease is estimated to be approximately 1:200,000. 2 Until now, four genetic loci have been associated with AR, including the genes FOXC1 and PITX2 located on 6p25 and 4q25, respectively. 3,4 A third locus was mapped to 13q14, but the gene has not yet been identified. 3,10 -20 The mutation spectrum comprises frameshift and nonsense as well as missense mutations in the forkhead domain (for an overview, see 23 From experimental data it seems likely that the molecular basis of tooth anomalies in AR is the inability of mutant PITX2 to activate genes involved in tooth morphogenesis, 25 To date, 30 mutations of the PITX2 gene have been associated with AR 4,26 -33 and other cases of anterior segment malformations, such as iridogoniodysgenesis, 34 iris hypoplasia, 37 The purpose of this study was to determine the prevalence of FOXC1 and PITX2 mutations in a cohort of German patients with AR malformations. MATERIALS AND METHODS Ascertainment of Patients and Clinical Evaluation Written informed consent was obtained from all subjects, and the study was approved by the ethics committees of the University Hospital Tübingen and the University Hospital Würzburg and conducted in accordance with the Declaration of Helsinki. Ophthalmic examinations included slit lamp biomicroscopy, gonioscopy, and measurement of intraocular pressure (IOP), visual acuity, and visual fields. Diagnosis of hypodontia was based on panoramic radiographs. Other diagnoses were obtained from the patients' attending specialists. Mutation Detection by Direct Sequencing Patient DNA was extracted from peripheral blood lymphocytes using a standard salting-out procedure. Individual exons of the PITX2 gene were amplified by polymerase chain reaction (PCR) using appropriate amplification protocols. Amplification of the single FOXC1 exon was performed with a set of four overlapping primers. Primer pairs for amplification and sequencing are available on request. PCR fragments were purified (ExoSAP-IT enzyme cleanup; USB, Cleveland, OH) and From th