Showing papers by "Fumihiko Matsuda published in 2004"
TL;DR: It is found that there is no statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression, and the coding regions and promoters of these genes were resequenced in a cohort of 212 HIV-1-seropositive patients presenting extreme disease phenotypes and 155 healthy controls.
Abstract: Apoptosis has been suggested as a major mechanism for the CD4+ T-lymphocyte depletion observed in patients infected with human immunodeficiency virus 1 (HIV-1). To evaluate the impact of genetic variations to apoptosis during progression of acquired immunodeficiency syndrome (AIDS), we have performed an extensive genetic analysis of Fas and Fas ligand (FasL) genes. The coding regions and promoters of these genes were resequenced in a cohort of 212 HIV-1-seropositive patients presenting extreme disease phenotypes and 155 healthy controls of Caucasian origin. Overall, 33 single nucleotide polymorphisms (SNPs) with an allele frequency >1% were identified and evaluated for their association with disease progression. Among them, 14 polymorphisms were newly characterized. We did not find any statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression.
15 citations
01 Jan 2004
TL;DR: The complete nucleotide sequence of the entire human IgH locus is now available and provides an enormously beneficial reference to V H gene mapping and polymorphisms with detailed structure of the human C H locus.
Abstract: This chapter discusses the structural analysis of the human Immunoglobulin heavy chain locus. The immunoglobulin (Ig) molecule is composed of heavy (H) and light (L) chains, both of which consist of variable (V) and constant (C) regions. The V region is responsible for antigen binding, whereas the C H region specifies the isotype of Ig. Genes encoding IgH V regions are split in V H , diversity (D H ), and joining (J H ) segments. Each of the three segments is assembled in a functional V H gene by a somatic genetic event called VDJ recombination. The human C H locus comprises 11 C H genes, out of which 2 are pseudogenes. The V H and C H loci are physically linked on the chromosome in the order of 5 '- V H -D H -J H -C H -3'. Evolutionary studies of V H organization, structure, and comparison of V H loci between related species will provide insight to the molecular mechanisms that govern the evolution of multigene families. In response to the rapid evolution of genome sequencing technology, the complete nucleotide sequence of the entire human IgH locus is now available. It provides an enormously beneficial reference to V H gene mapping and polymorphisms with detailed structure of the human C H locus.
6 citations