The Human Genome Project

Objectives
identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project

Potential Benefits of Human Genome Project Research

Molecular medicine Energy sources and environmental applications Risk assessment Bioarchaeology, anthropology, evolution, and human migration DNA forensics (identification) Agriculture, livestock breeding, and bioprocessing

Molecular Medicine
Improved diagnosis of disease Earlier detection of genetic predispositions to disease Rational drug design Gene therapy and control systems for drugs Pharmacogenomics "custom drugs"

Energy and Environmental Applications

Use microbial genomics research to create new energy sources (biofuels) Use microbial genomics research to develop environmental monitoring techniques to detect pollutants Use microbial genomics research for safe, efficient environmental remediation

Risk Assessment
Assess health damage and risks caused by radiation exposure, including low-dose exposures Assess health damage and risks caused by exposure to mutagenic chemicals and cancercausing toxins Reduce the likelihood of heritable mutations

Bioarchaeology, Anthropology, Evolution, and Human Migration

Study evolution through germline mutations in lineages Study migration of different population groups based on female genetic inheritance Study mutations on the Y chromosome to trace lineage and migration of males Compare breakpoints in the evolution of mutations with ages of populations and historical events

DNA Forensics (Identification)

Identify potential suspects whose DNA may match evidence left at crime scenes Exonerate persons wrongly accused of crimes Identify crime and catastrophe victims Establish paternity and other family relationships Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers) Detect bacteria and other organisms that may pollute air, water, soil, and food Match organ donors with recipients in transplant programs Determine pedigree for seed or livestock breeds

Agriculture, Livestock Breeding, and Bioprocessing

Disease-, insect-, and drought-resistant crops Healthier, more productive, disease-resistant farm animals More nutritious produce Biopesticides Edible vaccines incorporated into food products New environmental cleanup uses for plants like tobacco

Findings of HGP
The human genome contains 3.2 billion chemical nucleotide base pairs (A, C, T, and G). The average gene consists of 3,000 base pairs, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million base pairs. The total number of genes is estimated at 25,000, much lower than previous estimates of 80,000 to 140,000 that had been based on extrapolations from gene-rich areas as opposed to a composite of gene-rich and gene-poor areas. The human genome sequence is almost exactly the same (99.9%) in all people. Functions are unknown for more than 50% of discovered genes.

 About 2% of the genome encodes instructions for the synthesis of proteins. Repeat sequences that do not code for proteins make up at least 50% of the human genome.

How It's Arranged

The human genome's gene-dense "urban centers" are predominantly composed of the DNA building blocks G and C. In contrast, the gene-poor "deserts" are rich in the DNA building blocks A and T. GC- and AT-rich regions usually can be seen through a microscope as light and dark bands on chromosomes. Genes appear to be concentrated in random areas along the genome, with vast expanses of noncoding DNA between.

 Particular gene sequences have been associated with numerous diseases and disorders, including breast cancer, muscle disease, deafness, and blindness. Stretches of up to 30,000 C and G bases repeating over and over often occur adjacent to gene-rich areas, forming a barrier between the genes and the "junk DNA." These CpG islands are believed to help regulate gene activity. Chromosome 1 (the largest human chromosome) has the most genes (3,168), and Y chromosome has the fewest (344).

Arabidopsis thaliana
It is a small plant in the mustard family Arabidopsis thaliana is a model system for genomic studies of plant species The genome project was started in 1990

Objectives
primary objective of this project has been to understand the molecular basis of plant growth and development to address fundamental questions in plant physiology, biochemistry, cell biology, and pathology

Why Arabidopsis
ability to be transformed, availability of numerous mutations, small size, short life cycle, small genome detailed information on specific genes and cellular processes can be readily obtained and rapidly applied to a wide range of plants relevant to agriculture, health, energy, manufacturing, and the environment.

Findings
Genome size is 125 x 106 base pairs (genome sequence first published in December, 2000) Sequence analysis has indicated that the genome of A. thaliana contains 25,498 genes. Contains a similar number of gene functional classifications as other sequenced eukaryotic genomes

Figure: Distribution of genes in Arabidopsis thaliana

Number of chromosomes n=5, 2n=10

Has 35% unique genes Has 37.5% genes that exist as members of large gene families (families of 5 or more members) Shows evidence of ancient polyploidy: an estimated 58-60% of the Arabidopsis genome exists as large segmental duplications Arabidopsis centromeric regions, although largely heterochromatic, overall contain at least 47 expressed genes Arabidopsis genome contains genes encoding RNA polymerase subunits not seen in other eukaryotic organisms Arabidopsis has many gene families common to plants and animals which have been greatly expanded in plants for instance, Arabidopsis contains 10- fold as many aquaporin (water channel) proteins than any other sequenced organism