Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Genomic rearrangements are a well-recognized cause of genetic disease and can be formed by a variety of mechanisms. We report a complex rearrangement causing severe hemophilia A, identified and further characterized using a range of PCR-based methods, and confirmed using array-comparative genomic hybridization (array-CGH). This rearrangement consists of a 15.

Mammalian gene expression in hypoxic conditions.

Hypoxia induces gene expression of specific genes such as erythropoietin (Epo) and vascular endothelial growth factor (VEGF) that allow physiological adaptation to the environmental conditions at the cellular, local, and systemic levels. Reduced oxygenation is also a common precursor of many pathological processes, including coronary artery defects, ischemia, and malignant tumour formation. The hypoxia-inducible transcription factor HIF-1, a heterodimer consisting of the oxygen-regulated alpha-subunit and the constitutively expressed beta or ARNT-subunit, serves as a master regulator of oxygen-dependent gene expression.

Decreased alveolar oxygen induces lung inflammation.

Molecular mechanisms of the inflammatory reaction in hypoxia-induced lung injury are not well defined. Therefore, effects of alveolar hypoxia were studied in rat lungs, exposing rats to 10% oxygen over periods of 1, 2, 4, 6, and 8 h. An increase in the number of macrophages in bronchoalveolar lavage fluid of hypoxic animals was shown between 1 and 8 h.

Generation and application of chicken egg-yolk antibodies.

Despite the fact that the use of chicken as immunization host brings many advantages to the production of polyclonal antibodies, the generation of egg yolk immunoglobulins (IgY) is rarely chosen. In this review, we report on the fast and efficient method for generation and affinity purification of IgY, in this case raised against the alpha-subunit of hypoxia-inducible factor-1 (HIF-1). The IgY antibody was successfully applied in a variety of methods and a number of different species for HIF-1alpha detection.

Increased cerebral infarct volumes in polyglobulic mice overexpressing erythropoietin.

There is increasing evidence that erythropoietin (Epo) has a protective function in cerebral ischemia. When used for treatment, high Epo plasma levels associated with increases in blood viscosity, however, may counteract beneficial effects of Epo in brain ischemia. The authors generated two transgenic mouse lines that overexpress human Epo preferentially, but not exclusively, in neuronal cells.