Human Genome Presented by Peyman Ghoraishizadeh Department of Obstetric &GynecologyUniversity Of Putra Malaysia
What is a Genome and Gene? A genome is an organism’s complete set of DNA, including all of its genes Each genome contains all of the information needed to build and maintain that organism A gene produce a protein
The Physical Structure of the Human Genome Nuclear DNA The nucleus contains long strands of DNA that encode genetic information double helix DNA contains base, sugar and phosphate group Two strand are connected to each other by chemical pairing of each base suitable molecule for carrying our genetic information
Organelle DNA Not all genetic information is found in nuclear DNA Each mitochondrion has its own set of genes Cells often have multiple mitochondria Responsible for energy conversion The energy-conversion process that takes place in the mitochondria takes place aerobically There are many diseases caused by mutations in mitochondrial DNA (mtDNA) like deafness
Ribonucleic Acids ribonucleic acid (RNA) is a chain, or polymer, of nucleotides with the same 5 to 3 direction of its strands RNA has a 2 oxygen atom that is not present in DNA uracil takes the place of the thymine nucleotide found in DNA
Structural Genes Sequences that code for proteins Regulatory Sequences makes up a numerically insignificant fraction of the genome but provides critical functions certain sequences indicate the beginning and end of genes, sites for initiating replication and recombination regulatory sequences are inherited Junk DNA sequences are components of an organisms DNA that do not encode protein sequences over 98% of the human genome is noncoding DNA ,
Other DNA Regions Forty to forty-five percent of our genome is made up of short sequences that are repeated, sometimes hundreds of times There are numerous forms of "repetitive DNA“ They have some functions such as stabilizing the chromosome structure or inactivating one of the two X chromosomes in developing females, a process called X-inactivation The most highly repeated sequences found so far in mammals are called "satellite DNA" These sequences are associated with chromosome structure and are found at the centromeres (or centers) and telomeres (ends) of chromosomes they do not play a role in the coding of proteins, they do play a significant role in chromosome structure, duplication, and cell division
Haplotype is a combination of alleles (DNA sequences) at adjacent locations (loci) on a chromosome that are transmitted together A haplotype may be one locus, several loci, or an entire chromosome depending on the number of recombination events that have occurred between a given set of loci A second meaning of the term haplotype is a set of single-nucleotide polymorphisms (SNPs) on a single chromosome of a chromosome pair that are associated statistically It is thought that these associations, and the identification of a few alleles of a haplotype sequence, can unambiguously identify all other polymorphic sites in its region. Such information is very valuable for investigating the genetics of common diseases, and has been investigated for the human species by the International HapMap Project .
What was Human Genome Project The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy. Additional contributors included universities across the United States and international partners in the United Kingdom, France, Germany, Japan, and China
The Human Genome Project formally began in 1990 and was completed in 2003,2 years ahead of its original schedule The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person researchers learn more about the functions of genes and proteins this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences
What were the goals of the Human Genome Project Project goals were to 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. The Project also aimed to sequence the genomes of several other organisms that are important to medical research, such as the mouse and the fruit fly.
What is DNA sequencing Sequencing means determining the exact order of the base pairs in a segment of DNA method used by the HGP to produce the finished version of the human genetic code is map- based, or BAC-based, sequencing More recently scientists estimated that there are less than 30,000 human genes. However, we still have to make guesses at the actual number of genes, because not all of the human genome sequence is annotated
Omic Projects International HapMap Project that aims to develop a haplotype map (HapMap) of the human genome, which will describe the common patterns of human genetic variation HapMap is a key resource for researchers to find genetic variants affecting health, disease and responses to drugs and environmental factors
Encode DNA Encyclopedia of DNA Elements (ENCODE ) The goal is to find all functional elements in the human genome On 5 September 2012, initial results of the project were released These publications combine to show that approximately 20% of noncoding DNA in the human genome is functional while an additional 60% is transcribed with no known function. These results demonstrate that gene regulation is far more complex than previously believed.
Human Genome Project YESTERDAY Just a half-century ago, very little was known about the genetic factors that contribute to human disease The Human Genome project spurred a revolution in biotechnology innovation around the worldIn April 2003, researchers successfully completed the Human Genome Project TODAY The Human Genome Project has already fueled the discovery of more than 1,800 disease genes As a result of the Human Genome Project, today’s researchers can find a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before the genome sequence was in hand
TOMORROWAn ambitious new initiative, The Cancer Genome Atlas aims to identify all the genetic abnormalities seen in 50 major types of cancer.Based on a deeper understanding of disease at the genomic level, we will see a whole new generation of targeted interventions, many of which will be drugs that are much more effective and cause fewer side effects than those available today.