Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg

Screening of patients with familial breast cancer from St. Petersburg for BRCA1 gene mutations resulted in identification of three mutations (414del3, 276delA, and A622V) and two polymorphisms (P871L and S1436S). Mutations 4146del3 and 276delA are novel, never previously described elsewhere. Deletion 2761delA produces a reading frame shift, premature protein synthesis termination and can cause predisposition for breast cancer. Deletion 414de13 does not cause a frame shift, but can result both in the disappearance of amino acid residue (D1343del) in the BRCA1 protein and in alteration of folding of the protein, entailing loss of its functional activity. Two variants of nucleotide sequence observed in the number of patients were classified as DNA polymorphisms (P871L and S1436S) rather than mutations as they were not tightly associated with the increased risk of breast cancer.     

A glutathione-based system for defense against carbonyl stress in Haemophilus influenzae

ABSTRACT: BACKGROUND: adhC from Haemophilus influenzae encodes a glutathione-dependent alcohol dehydrogenase that has previously been shown to be required for protection against killing by S-nitrosoglutathione (GSNO). This group of enzymes is known in other systems to be able to utilize substrates that form adducts with glutathione, such as aldehydes. RESULTS: Here, we show that expression of adhC is maximally induced under conditions of high oxygen tension as well as specifically with glucose as a carbon source. adhC could also be induced in response to formaldehyde but not GSNO. An adhC mutant was more susceptible than wild-type Haemophilus influenzae Rd KW20 to killing by various short chain aliphatic aldehydes, all of which can be generated endogenously during cell metabolism but are also produced by the host as part of the innate immune response. CONCLUSIONS: These results indicate that AdhC plays a role in defense against endogenously generated reactive carbonyl electrophiles in Haemophilus influenzae and may also play a role in defense against the host innate immune system.     

POTENTIATION OF CAFFEINEINDUCED CONTRACTURE BY RAISING EXTRACELLULAR POTASSIUM IN FROG SKELETAL MUSCLE

用蛙胫前肌小束为材料,研究了提高胞外钾［Ｋ＋］Ｏ对咖啡因挛缩的作用。［Ｋ＋］Ｏ从２ｍｍｏｌ／Ｌ提高到１０或２５ｍｍｏｌ／Ｌ,由３ｍｍｏｌ／Ｌ咖啡因引起的挛缩明显增强。以ＰＫＣ／ＰＣ（ＰＫＣ和ＰＣ分别为在高钾和正常钾条件下的咖啡因挛缩）表示的咖啡因挛缩增强,依赖［Ｋ＋］Ｏ和高钾作用时间。随着１０ｍｍｏｌ／Ｌ［Ｋ＋］Ｏ作用时间延长,直至１０ｍｉｎ,增强逐渐增加。但是,２５ｍｍｏｌ／Ｌ［Ｋ＋］Ｏ作用１ｍｉｎ时增强达到最大,然后下降到对照。ＰＫＣ／ＰＣ变化时程不能用高钾引起的去极化解释,而与由相似［Ｋ＋］Ｏ引起的胞浆自由钙变化时程相符。提示,至少在蛙骨骼肌,高钾引起的咖啡因挛缩增强主要是由胞浆自由钙升高引起的。     

Immunoenzyme analysis of angiogenin in cow's milk]

Competitive enzyme immunoassay based on polyclonal antibodies can be used for determining the content of angiogenin in milk. These polyclonal antibodies had no cross-reactions with ribonuclease or other milk whey proteins. Milk angiogenin levels in samples taken fvom animals of a separate population varied from 2.09 to 4.85 mg/l. Unlike cow milk productivity, the number of calvings affects the milk angiogenin content.     

Genetics of Caucasian population: distribution of various immunological and biochemical markers in western Georgia

The distribution of genetic markers of blood groups (ABO, Rhesus, MNSs, P, Duffy, Kell-Cellano), plasma proteins (Hp, Gc, Tf, C'3) and red-cell enzymes (AcP, EstD, GLO-1), and also ABH secretion among 10 populations of Western Georgia has been studied. The common characteristic of distribution of gene frequencies for the markers studied was obtained as a whole in Georgia. The Georgians were compared for these markers with some populations of the Caucasus, Europe and West Asia. Among Caucasian populations, Georgians are most similar to Abkhasians. According to some systems, Georgians are close to European groups (ABO, Dubby, GLO-1, EstD), while they are similar to West-Asian groups, as judged by other systems (ABH secretion, AcP). According to Rhesus and MNSs systems, Georgians differ both from populations of Europe and from populations of West Asia.     

Genetics of human populations of Caucasus: distribution of various immunological and biochemical markers in eastern Georgia

The distribution of genetic markers of blood groups (AB0, P, Rhesus, MNSs, Duffy, Lewis, Kell-Cellano), of the serum proteins (Hp, Gc, Tf, C'3), red-cell enzymes (AcP, EstD, GLO1) and also ABH-secretion among seven native populations of Eastern Georgia has been studied. The frequencies of genes and haplotypes were calculated for the polymorphic markers and the results obtained were used in analysis of interpopulation variation and genetic relationship of these populations to their geographical neighbours as well as to European and West Asian populations.     

The European Renal Genome Project: An Integrated Approach Towards Understanding the Genetics of Kidney Development and Disease

Rapid progress in genome research creates a wealth of information on the functional annotation of mammalian genome sequences. However, as we accumulate large amounts of scientific information we are facing problems of how to integrate and relate the data produced by various genomic approaches. Here, we propose the novel concept of an organ atlas where diverse data from expression maps to histological findings to mutant phenotypes can be queried, compared and visualized in the context of a three-dimensional reconstruction of the organ. We will seek proof of concept for the organ atlas by elucidating genetic pathways involved in development and pathophysiology of the kidney. Such a kidney atlas may provide a paradigm for a new systems-biology approach in functional genome research aimed at understanding the genetic bases of organ development, physiology and disease.Key Words: EuReGene, kidney, genome, development, pathophysiology, genetics