Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Comparative analysis of G2 arrest after irradiation with 75 keV carbon-ion beams and 137Cs gamma-rays in a human lymphoblastoid cell line.

Heavy-ion beams are more effective than gamma-rays in causing G2 arrest. In this study, we investigated the expression of Wee1 and Cdc2 protein levels in order to analyze the G2 arrest caused by carbon-ion beam irradiation. Human lymphoblastoid TK6 cells were exposed to a 75 keV carbon-ion beam or 137Cs gamma-rays. Although the levels of Wee1 and Cdc2 protein were increased after exposure to either beam, Wee1 protein levels were influenced more by carbon-ion beam irradiation than by gamma-rays. To the contrary, Cdc2 protein levels were increased more by gamma-rays than by carbon-ion beams. These findings suggest that the G2 arrest produced by heavy-ion beams, such as the carbon-ion irradiation used in this study, might be associated with the overexpression of the Wee1 protein and of Cdc2 phosphorylation regulated by Wee1. Together, these events may act to prolong the length of G2 arrest

The combination of polymorphisms within interferon-γ receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus

AbstractGenetic factors seem to play a significant role in susceptibility to systemic lupus erythematosus (SLE). We previously described the amino acid polymorphism (Val14Met) within the IFN-γ receptor 1 (IFN-γR1), and that the frequency of the Met14 allele in SLE patients was significantly higher than that of the healthy control population [Tanaka et al. (1999) Immunogenetics 49, 266–271]. We also found an amino acid polymorphism (Gln64Arg) within IFN-γ receptor 2 (IFN-γR2). Since the IFN-γ receptor is a complex consisting of IFN-γR1 and IFN-γR2, we searched for the particular combination of two kinds of amino acid polymorphisms found within the IFN-γ receptor which plays a prominent role in susceptibility to SLE. The greatest risk of the development of SLE was detected in the individuals who had the combination of IFNGR1 Met14/Val14 genotype and IFNGR2 Gln64/Gln64 genotype