Genome Projects Introduction Maps Human Genome Mapping Human

Genome Projects • • • Introduction Maps Human Genome Mapping Human Genome Sequencing Landmarks in Sequencing Comparative Genomics

Genome Projects • Overview of the process – Size of the genome – Ultimate goal – Resources that are available

Genome Projects • Comparison of genetic maps

Genome Projects • Progress in human gene mapping – Initially very fast (monogenic traits)

Genome Projects • Landmarks in genome sequencing

Genome Projects • Progress in human genome sequencing – Landmark papers in Nature and Science (2001)

Genome Projects • A typical high-throughput genomics facility

Genome Projects • Comparative genomics and proteomics – Rapidly deduce the function of many genes

Our place in the tree of life • Endosymbiont hypothesis

Our place in the tree of life • Gene duplication – Acquisition of novel functions

Our place in the tree of life • Genome duplication – Transient tetraploid state before restoration of diploidy

Our place in the tree of life • Gene duplication – Paralogous chromosome segments – Ancient genome duplications – Hox gene clusters

Our place in the tree of life • Human sex chromosomes – Y chromosome (PAR 1 and 2) – Pseudoautosomal region • Recombination • Boundary within the XG blood group (PAR 1) • Regions of homology between X and Y

Our place in the tree of life • Comparison of human and mouse X chromosome organization – Pseudoautosomal regions (not well conserved) – X inactivated regions (blue) differ – Origin of sex chromosomes

Our place in the tree of life • Mammalian phylogeny

Our place in the tree of life • Concerted evolution

Our place in the tree of life • Evolution of the globin gene family – Organization of orthologous gene families – Beta globin evolution – Globin gene introns (conservation of positions but not size)

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Our place in the tree of life • Exon duplication and shuffling – Examples – May be mediated by mobile elements

Our place in the tree of life • Conservation between mouse and man – Limited to subchromosomal regions – Variable rates of amino acid sequence divergence

Our place in the tree of life • Conservation between humans and nonhuman primates Cytogenetic similarity

Our place in the tree of life • Human evolution – Coalescence analyses (mt. DNA and Y chromosome) – Mutiregional vs. Out of Africa