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Human genome project sequenced DNA on all human chromosomes ◦ 2.9 billion base pairs ◦ based on 6-10 anonymous individuals ◦ completed in early 2000s ◦ hundreds of researchers working in 2 independent teams (one government funded and one privately funded) ◦ hope is to eventually identify where all genes are located in the sequenced DNA ◦ estimated 20,000-25,000 protein-coding genes ◦ identifying genes is hard ◦ most of genome consists of non-coding DNA ▪ repetitive sequences ▪ regulatory elements ◦ goals over next several decades ▪ identify genes ▪ understand what gene's role is ▪ how each gene interacts with other genes ▪ how the expression of each gene is regulated in different tissues genome wide associated scans demonstrate the genetic complexity of diseases ◦ compare genomes of individuals with a particular disease to genome of individuals without that disease ▪ 2007 genomes of 16,000 British people scanned ▪ looked for genetic correlates of bipolar disease, heart disease, Chrohn's disease, hypertension, arthritis, diabetes ▪ so far, found 24 variations in genome associated with increased risk for one or more of these diseases ▪ remember: phenotype determined by genes and environment comparative genomics is fascinating ◦ compare genomes of different animals ◦ human vs. mouse – very interesting ◦ ~500 segments of DNA that are 200+ base pairs long are identical – 100% conservedbetween the mouse and humans ◦ means that these segments have not mutated at all over past 75 million years ◦ during this time, other segments have undergone lots of mutations ◦ why are these segments so well-conserved ◦ most likely, they are essential for survival – many highly conserved segments regulate the expression of other genes chromosomal abnormalities ◦ polyploidy – multiple sets of chromosomes ▪ arises from failure of chromosomes to separate during meiosis or from fertilization of an egg by more than 1 sperm ▪ lethal in humans if in somatic cells ◦ aneuploidies – presence of a single additional chromosome or absence of chromosome ▪ more common ▪ usually result when chromosomes fail to separate during anaphase(non-disjunction) ▪ trisomy – cell has 2 copies of each chromosome except for one, which has 3 copies

▪ monosomy – individual lacks one member pair of a chromosome ◦ non-disjunction can occur in sex chromosomes or somatic cells ◦ in sex cells. it can produce: ▪ sperm with 2 x's or 2 y's ▪ egg with 2 x's or 0 x's .

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