Functional Analysis of the Human Genome [Hardcover]

An excellent review of the relationship between structure and function in the human genome, and a detailed description of some of the important methodologies for unravelling the function of genes and genomic structures.Contributors -- Abbreviations -- Preface -- Foreword /V.A. McKusick -- 1 Structure and function in the human genome /D.N. Cooper -- Introduction -- Chromatin structure and transcription -- Chromatin structure -- Nucleosome positioning -- Transcriptional domains -- Chiasmata, recombination and recombination hotspots -- Scaffold attachment regions -- Centromeres -- Telomeres -- Origins of DNA replication -- Genes -- Gene structure and organization -- seudogenes -- Functional organization of human genes -- Repetitive sequence elements -- Tandem repeats -- Alu sequences -- LINE elements -- Endogenous retroviral sequences -- Transcriptional regulation -- Promoter elements -- Enhancers -- Negative regulatory elements -- Locus control regions -- Boundary elements -- Trans-acting protein factors -- Sequences involved in transcriptional termination -- mRNA splicing and processing -- Sequences involved in determining mRNA stability -- Role of sequences in 5' untranslated regions -- DNA methylation -- Distribution of 5-methylcytosine -- Replication of the methylation pattern and de novo methylation -- Role of DNA methylation in the regulation of transcription -- Role of DNA methylation in X-inactivation -- Changes in DNA methylation during embryogenesis -- DNA methylation and imprinting -- References -- 2 Mapping the human genome /D.N. Cooper -- Introduction -- Markers -- Gene sequences -- DNA polymorphisms -- D-segments -- Sequence-tagged sites -- Inter-Alu PCR probes -- Allele-specific oligonucleotides -- Cytogenetic mapping -- Somatic cell hybrid analysis -- Radiation hybrid mapping -- Fluorescence in situ hybridization -- In situ PCR -- High-resolution physical mapping -- Yeast artificial chromosome cloning -- Contig assembly -- Pulsed-field gel electrophorelC3