Maintenance of genomic integrity is vital to all organisms. A number of human genetic disorders, including Werner Syndrome, Bloom Syndrome and Rothmund-Thomson Syndrome, exhibit genomic instability with some phenotypic characteristics of premature aging and cancer predisposition. Presumably the aberrant cellular and clinical phenotypes in these disorders arise from defects in important DNA meta...

an alcoholic soldier. Cruveilhier (1835) later reported this case and Trousseau (1868) gave the first good description of the condition. In Cruveilhier-Baumgarten syndrome where there is hepatic atrophy with a little fibrosis and patent umbilical vein, venous hum has occasionally been heard in the umbilical-xiphoid region. Armstrong and his associates (1942) suggest that Cruveilhier-Baumgarten ...

et al., 1961; Lubs, Koenig, and Brandt, 1961) has recently been identified with the late-replicating, distally labelled, D1 (13) pair (Yunis, Hook, and Mayer, 1964b; Yunis et al., 1964a; Yunis and Hook, 1966; Gianne]li, 1965; Giannelli and Howlett, 1966; Lee et al., 1966; Wilson et al., 1967; Bloom and Gerald, 1968). This report concerns a retarded adult with some manifestations of the D1 syndr...

Transposable elements are frequently used in Drosophila melanogaster for imprecise excision screens to delete genes of interest. However, these screens are highly variable in the number and size of deletions that are recovered. Here, we show that conducting excision screens in mus309 mutant flies that lack DmBlm, the Drosophila ortholog of the Bloom syndrome protein, increases the percentage an...

In most sexually reproducing organisms, crossover formation between homologous chromosomes is necessary for proper chromosome disjunction during meiosis I. During meiotic recombination, a subset of programmed DNA double-strand breaks (DSBs) are repaired as crossovers, with the remainder becoming noncrossovers [1]. Whether a repair intermediate is designated to become a crossover is a highly reg...

A Bloom filter is a compact data structure that supports membership queries on a set, allowing false positives. The simplicity and the excellent performance of a Bloom filter make it a standard data structure of great use in many network applications. In reducing the false positive rate of a Bloom filter, it is well known that the size of a Bloom filter and accordingly the number of hash indice...

Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma...

Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasingly intermixed, this approach is becoming inadequate. Our objective was to develop a rigorous process to curate all variants, for relevant genes, i...