The human Xp/Yp telomere-junction region exhibits high levels of sequence polymorphism and linkage disequilibrium. To determine whether this is a general feature of human telomeres, we have undertaken sequence analysis at the 12q telomere and have extended the analysis at Xp/Yp. A total of 22 single-nucleotide polymorphisms (SNPs) and one 30-bp duplication were detected in the 1,870 bp adjacent to the 12q telomere. Twenty polymorphic positions were in almost complete linkage disequilibrium, creating three common diverged haplotypes accounting for 80% of 12q telomeres in the white population. A further 6% of 12q telomeres contained a 1,439-bp deletion in the DNA flanking the telomere. The remaining 13% of 12q telomeres did not amplify with the primers used (nulls). The distribution of telomere (TTAGGG) and variant repeats within 12q telomeres was hypervariable, but alleles with similar distribution patterns were associated with the same haplotype in the telomere-adjacent DNA. These data suggest that 12q telomeres, like Xp/Yp telomeres, exhibit low levels of homologous recombination and evolve along haploid lineages. In contrast, high levels of homologous recombination occur in the adjacent proterminal regions of human chromosomes. This suggests that there is a localized telomere-mediated suppression of recombination. In addition, the genetic characteristics of these regions may provide a source of deep lineages for the study of early human evolution, unaffected by both natural selection and recombination. To explain the presence of a few diverged haplotypes adjacent to the Xp/Yp and 12q telomeres, we propose a model that involves the hybridization of two archaic hominoid lineages ultimately giving rise to modern Homo sapiens.
Human telomeres are composed of tandem arrays of TTAGGG repeats with many variant repeats at the proximal ends. Comparison of the interspersion of variant and TTAGGG repeats between alleles can be used to study telomere instability, but the difficulty in identifying chromosome-specific sequences close to the start of autosomal telomeres has hampered such investigations. A chromosome end, including a telomere and adjacent sequence, that is polymorphic for its presence or absence in unrelated individuals has been identified. The telomere-adjacent DNA shows strong homology (92-99%) to sequences, including two expressed sequence tags, that are usually located in subterminal regions of human chromosomes but not adjacent to telomeres. Since this chromosome end arose, it has relocated at least once. In Caucasians, it forms the telomere of approximately 6% of 16q and 2% of 16p chromosome arms. The mechanism of relocation is unknown but must have involved the telomere-adjacent DNA rather than the telomere itself, as copies on 16p and 16q share the same telomere-adjacent sequence. The interspersion patterns of TTAGGG with TGAGGG, TTGGGG and non-amplifying repeat sequences revealed extensive allelic variation, such that 47 different alleles were observed among the 50 alleles mapped. Closely related alleles differ by small changes in copy number at blocks of adjacent like repeats, as seen at the Xp/Yp pseudoautosomal telomere. Such differences are compatible with a model in which the majority of mutations arise by intra-allelic mechanisms, in individuals hemizygous for a single copy of the chromosome end.
A comparison is made between earlier studies of French loan words, whose slightly varying methodologies reveal some interesting trends. Most of the earlier studies have restricted them selves to consideration of unaffixed loans taken directly from French with no alteration in sense, but this study compares borrowing from French and Latin as well as considering semantic and morphological development. Borrowing from each language is considered in relation to losses and in relation to the size of the lexis as a whole.
Lexicographers often provide an account of their working practices and policies, and reviewers and researchers generally take this on trust. Forensic dictionary analysis uses evidence-based methodologies to interrogate the dictionaries themselves about decision-making processes involved in their compilation. The version of events that this reveals is sometimes quite different from compilers" accounts. This paper builds on a variety of approaches in historical dictionary research -statistical, textual, contextual, and qualitative -to present forensic dictionary analysis as a technique that allows researchers to examine and understand the complex relationships between editorial policy and lexicographic practice.
Although there are continuities with earlier slang lexicography, particularly in the work of Eric Partridge, the period covered by this volume sees a number of marked social and lexicographical changes. The post-war cultural dominance of the United States is evident throughout, as is the influence of African‐American music and language. Slang dictionaries also document attempts by Britain and its colonies to (re)define their sense of national identity. Musical and cultural trends each produced their own characteristic slang, which was manipulated by commercial interests to target the youth market. Homosexual slang was documented first as a diagnostic tool for psychiatrists, but later became an expression of gay pride. Attempts to associate homosexuality with communism label gay rights as a significant threat to the structure of society. Drugs were another threat that became dominant in this period, and the punitive response saw a rapidly increasing prison population. Dictionaries of crime during this period tend to concentrate on the language used inside prisons rather than by criminals at large. But slang is not just for left-wingers. British dictionaries of rhyming slang and dictionaries of Australian slang both express anxieties about immigration through their attempts to construct a working‐class national identity. Right-wing pressure groups in the United States produced dictionaries of slang to reveal the threat represented by homosexuality and rock music. The biggest backlash is found in the numerous dictionaries of CB radio, which allowed blue‐collar white southerners to reconstruct themselves as freedom‐fighting urban cowboys.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.