Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). Previously described molecular defects include base substitutions altering encoded amino acids or resulting in abnormal splicing. We report a mutation resulting in phosphofructokinase deficiency in three patients from an Ashkenazi Jewish family. Using a reverse transcription PCR assay, PFKM subunit transcripts differing by length were detected in skeletal muscle tissue of all three affected subjects. In the longer transcript, an insertion of 252 nucleotides totally homologous to the structure of the 10th intron of the PFKM gene was found separating exon 10 from exon 11. In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. Single-stranded conformational polymorphism and restriction enzyme analyses confirmed the presence of these point substitutions in genomic DNA and strongly suggested homozygosity for the pathogenic allele. The nonsense mutation at codon 95 appeared solely responsible for the phenotype in these patients, further expanding genetic heterogeneity of Tarui disease. Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene.

The Caustic Pen Is Mightiest: A Tradition of Female Satire in the Novels of Jane Austen, Ivy Compton-Burnett, and Muriel Spark

Female satirists have long been treated by critics as anomalies within an androcentric genre because of the reticence to acknowledge women's right to express aggression through their writing. In Pride and Prejudice (1813), A House and Its Head (1935), and The Girls of Slender Means (1963), Jane Austen (1775-1817), Ivy Compton-Burnett (1884-1969), and Muriel Spark (1918-2006) all combine elements of realism and satire within the vehicle of the domestic novel to target institutions of their patriarchal societies, including marriage and family dynamics, as well as the evolving conceptions of domesticity and femininity, with a subtle feminism. These female satirists illuminate the problems they have with society more through presentation than judgment in their satire, which places them on the fringes of a society they wish to educate, distinguishing their satire from that written by male satirists who are judging from a privileged height above the society they are attempting to correct. All three women create heroines and secondary female characters who find ways to survive, and occasionally thrive, within the confines of a polite society that has a streak of savagery running just beneath its polished surface.

The Jewish Law Firm: Past and Present

The rise and growth of large Jewish law firms in New York City during the second half of the twentieth century was nothing short of an astounding success story. As late as 1950, there was not a single large Jewish law firm in town. By the mid-1960s, six of the largest twenty law firms were Jewish, and by 1980, four of the largest ten prestigious law firms were Jewish firms. Moreover, the accomplishment of the Jewish firms is especially striking because, while the traditional large White Anglo-Saxon Protestant law firms grew at a fast rate during this period, the Jewish firms grew twice as fast, and they did so in spite of experiencing explicit discrimination. What happened? This book chapter is a revised, updated study of the rise and growth of large New York City Jewish law firms. It is based on the public record, with respect to both the law firms themselves and trends in the legal profession generally, and on over twenty in-depth interviews with lawyers who either founded and practiced at these successful Jewish firms, attempted and failed to establish such firms, or were in a position to join these firms but decided instead to join WASP firms. According to the informants interviewed in this chapter, while Jewish law firms benefited from general decline in anti-Semitism and increased demand for corporate legal services, a unique combination of factors explains the incredible rise of the Jewish firms. First, white-shoe ethos caused large WASP firms to stay out of undignified practice areas and effectively created pockets of Jewish practice areas, where the Jewish firms encountered little competition for their services. Second, hiring and promotion discriminatory practices by the large WASP firms helped create a large pool of talented Jewish lawyers from which the Jewish firms could easily recruit. Finally, the Jewish firms benefited from a flip side of bias phenomenon, that is, they benefited from the positive consequences of stereotyping. Paradoxically, the very success of the Jewish firms is reflected in their demise by the early twenty-first century: because systematic large law firm ethno-religious discrimination against Jewish lawyers has become a thing of the past, the very reason for the existence of Jewish law firms has been nullified. As other minority groups, however, continue to struggle for equality within the senior ranks of Big Law, can the experience of the Jewish firms serve as a “separate-but-equal” blueprint for overcoming contemporary forms of discrimination for women, racial, and other minority attorneys? Perhaps not. As this chapter establishes, the success of large Jewish law firms was the result of unique conditions and circumstances between 1945 and 1980, which are unlikely to be replicated. For example, large law firms have become hyper-competitive and are not likely to allow any newcomers the benefit of protected pockets of practice. While smaller “separate-but-equal” specialized firms, for instance, ones exclusively hiring lawyer-mothers occasionally appear, the rise of large “separate-but-equal” firms is improbable.

Short nomenclator or vocabular in English and Hebrew: composed alphabetically for the use and benefit of my pupils in particular and for the advantage of those who are desirous to obtain the knowledge of the Hebrew tongue in general, which may be that great help to understand not only ye sacred oracles in their original, but even any Jewish author (so far as concern owns) as also it may give great insight in ye tongue to those, as to compose it, a work altogether new, [ca. 1735]

Headed on the first page with the words "Nomenclatura hebraica," this handwritten volume is a vocabulary with the Hebrew word in the left column, and the English translation on the right. While the book is arranged in sections by letter, individual entries do not appear in strict alphabetical order. The small vocabulary varies greatly and includes entries like enigma, excommunication, and martyr, as well as cucumber and maggot. There are translations of the astrological signs at the end of the volume. Poem written at the bottom of the last page in different hand: "Women when good the best of saints/ that bright seraphick lovely/ she, who nothing of an angel/ wants but truth & immortality./ Verse 2: Who silken limbs & charming/ face. Keeps nature warm."

A manual of Scripture history, for use in Jewish schools and families,

Mode of access: Internet.

The crucifixion viewed from a Jewish standpoint : a lecture delivered by invitation before the "Chicago Institute for Morals, Religion and Letters" /

Mode of access: Internet.

Satire, odie lettere di Salvator Rosa;

"Vita di Salvator Rosa" signed Giosuè Carducci.

The Jewish faith: its spiritual consolation, moral guidance, and immortal hope; with a brief notice of the reasons for many of its ordinances and prohibitions; a series of letters answering the inquiries of youth.

Bound with the authors Shemaʻ Yiśraʾel. Philadelphia, 1864.

Jewish-American dialect stories on tape /

Offprint: Studies in Biblical and Jewish Folklore; Indiana University Folklore Series. No. 13 (1960).

The satire of Jonathan Swift /

"Three lectures delivered at Smith College in May, 1946."

Wanderers and settlers in the Far East : a century of Jewish life in China and Japan /

Includes index.

Jewish scholarship in Soviet Russia, 1918-1941.

Mode of access: Internet.