HumanHuman Genome Genome

Presented byPresented by

Peyman GhoraishizadehPeyman Ghoraishizadeh

Department of Obstetric Department of Obstetric &Gynecology &Gynecology

University Of Putra MalaysiaUniversity Of Putra Malaysia

What is a Genome and Gene?What is a Genome and Gene? A genome is an organism’s A genome is an organism’s

complete set of DNA, including all complete set of DNA, including all of its genesof its genes

Each genome contains all of the Each genome contains all of the information needed to build and information needed to build and maintain that organismmaintain that organism

A gene produce a protein A gene produce a protein

The Physical Structure of the Human The Physical Structure of the Human GenomeGenome

Nuclear DNANuclear DNA The nucleus contains long strands of The nucleus contains long strands of

DNA that encode genetic informationDNA that encode genetic information double helix double helix DNA contains base, sugar and phosphate DNA contains base, sugar and phosphate

group group Two strand are connected to each other Two strand are connected to each other

by chemical pairing of each base by chemical pairing of each base suitable molecule for carrying our suitable molecule for carrying our

genetic informationgenetic information

Organelle DNAOrganelle DNA Not all genetic information is found Not all genetic information is found

in nuclear DNAin nuclear DNA Each mitochondrion has its own set Each mitochondrion has its own set

of genes of genes Cells often have multiple Cells often have multiple

mitochondria mitochondria Responsible for energy conversionResponsible for energy conversion The energy-conversion process that The energy-conversion process that

takes place in the mitochondria takes place in the mitochondria takes place takes place aerobicallyaerobically

There are many diseases caused by There are many diseases caused by mutations in mitochondrial DNA mutations in mitochondrial DNA

(mtDNA) like deafness (mtDNA) like deafness

Ribonucleic AcidsRibonucleic Acids ribonucleic acid (RNA)ribonucleic acid (RNA) is a chain, or  is a chain, or

polymer, of nucleotides with the same polymer, of nucleotides with the same 5' to 3' direction of its strands 5' to 3' direction of its strands

RNA has a 2' oxygen atom that is not RNA has a 2' oxygen atom that is not present in DNA present in DNA

uracil takes the place of the thymine uracil takes the place of the thymine nucleotide found in DNAnucleotide found in DNA

Structural GenesStructural Genes Sequences that code for proteinsSequences that code for proteins

    Regulatory SequencesRegulatory Sequences makes up a numerically insignificant fraction makes up a numerically insignificant fraction

of the genome but provides critical functions of the genome but provides critical functions certain sequences indicate the beginning and certain sequences indicate the beginning and

end of genes, sites for initiating replication end of genes, sites for initiating replication and recombinationand recombination

regulatory sequences are inheritedregulatory sequences are inherited Junk DNAJunk DNA sequences are components of an organism's sequences are components of an organism's 

DNADNA that do not  that do not encodeencode  proteinprotein sequences sequences   over 98% of the over 98% of the human genomehuman genome is  is

noncoding DNAnoncoding DNA,,[1][1]

Other DNA RegionsOther DNA Regions Forty to forty-fiveForty to forty-five percent of our percent of our

genome is made up of short sequences genome is made up of short sequences that are repeated, sometimes hundreds of that are repeated, sometimes hundreds of times times

There are numerous forms of There are numerous forms of   "repetitive DNA“"repetitive DNA“

They have some functions such as They have some functions such as stabilizing the chromosome structure or stabilizing the chromosome structure or inactivating one of the two X inactivating one of the two X chromosomes in developing females, a chromosomes in developing females, a process called process called X-inactivationX-inactivation

The most highly repeated sequences The most highly repeated sequences found so far in mammals are found so far in mammals are called called "satellite DNA""satellite DNA"

These sequences are associated with These sequences are associated with chromosome structure and are found at chromosome structure and are found at the the centromerescentromeres (or centers)  (or centers) and and telomerestelomeres (ends) of chromosomes (ends) of chromosomes

they do not play a role in the they do not play a role in the coding of proteins, they do play a coding of proteins, they do play a significant role in chromosome significant role in chromosome structure, duplication, and cell structure, duplication, and cell divisiondivision

HaplotypeHaplotype is a combination of is a combination of allelesalleles ( (DNADNA sequences) at  sequences) at

adjacent locations (adjacent locations (lociloci) on a ) on a chromosomechromosome that are transmitted together  that are transmitted together

A haplotype may be one locus, several loci, or A haplotype may be one locus, several loci, or an entire chromosome depending on the an entire chromosome depending on the number of number of recombinationrecombination events that have  events that have occurred between a given set of locioccurred between a given set of loci

A second meaning of the term haplotype is a A second meaning of the term haplotype is a set of set of single-nucleotide polymorphismssingle-nucleotide polymorphisms (SNPs) on a single chromosome of a  (SNPs) on a single chromosome of a chromosome pair that are chromosome pair that are associated statisticallyassociated statistically

It is thought that these associations, and the It is thought that these associations, and the identification of a few alleles of a haplotype identification of a few alleles of a haplotype sequence, can unambiguously identify all sequence, can unambiguously identify all other polymorphic sites in its region. Such other polymorphic sites in its region. Such information is very valuable for investigating information is very valuable for investigating the genetics of common the genetics of common diseasesdiseases, and has been , and has been investigated for the human species by the investigated for the human species by the International International HapMapHapMap Project Project..

What was Human Genome ProjectWhat was Human Genome Project The Human Genome Project was The Human Genome Project was

an international research effort to an international research effort to determine the determine the sequence of the sequence of the human genomehuman genome and identify the and identify the genes that it contains.genes that it contains.

The Project was coordinated by The Project was coordinated by the National Institutes of Health the National Institutes of Health and the U.S. Department of and the U.S. Department of Energy. Additional contributors Energy. Additional contributors included universities across the included universities across the United States and international United States and international partners in the United Kingdom, partners in the United Kingdom, France, Germany, Japan, and France, Germany, Japan, and ChinaChina

The Human Genome Project The Human Genome Project formally began in 1990 and was formally began in 1990 and was completed in 2003,2 years ahead of completed in 2003,2 years ahead of its original scheduleits original schedule

The work of the Human Genome The work of the Human Genome Project has allowed researchers to Project has allowed researchers to begin to understand the blueprint for begin to understand the blueprint for building a personbuilding a person

researchers learn more about the researchers learn more about the functions of genes and proteinsfunctions of genes and proteins

this knowledge will have a major this knowledge will have a major impact in the fields of medicine, impact in the fields of medicine, biotechnology, and the life sciencesbiotechnology, and the life sciences

What were the goals of the Human What were the goals of the Human Genome ProjectGenome Project

Project Project goalsgoals were to  were to IdentifyIdentify all the approximately 20,000-25,000 genes in human DNA, all the approximately 20,000-25,000 genes in human DNA, DetermineDetermine the sequences of the 3 billion chemical base pairs that make up human  the sequences of the 3 billion chemical base pairs that make up human

DNA,DNA, StoreStore this information in databases, this information in databases, ImproveImprove tools for data analysis, tools for data analysis, TransferTransfer related technologies to the private sector, and related technologies to the private sector, and AddressAddress the ethical, legal, and social issues (ELSI) that may arise from the project. the ethical, legal, and social issues (ELSI) that may arise from the project.

The Project alsoThe Project also aimed to sequence the genomes of several other organisms that are aimed to sequence the genomes of several other organisms that are

important to medical research, such as the mouse and the fruit fly.important to medical research, such as the mouse and the fruit fly.

What is DNA sequencingWhat is DNA sequencing

Sequencing means determining Sequencing means determining the exact order of the base pairs the exact order of the base pairs in a segment of DNAin a segment of DNA

method used by the HGP to method used by the HGP to produce the finished version of produce the finished version of the human genetic code is map-the human genetic code is map-based, or BAC-based, based, or BAC-based, sequencing sequencing

More recently scientists More recently scientists estimated that there are estimated that there are less than less than 30,00030,000 human genes. However, human genes. However, we still have to make guesses at we still have to make guesses at the actual number of genes, the actual number of genes, because not all of the human because not all of the human

genome sequence is annotatedgenome sequence is annotated

Omic ProjectsOmic Projects

International HapMap International HapMap ProjectProject

that aims to develop that aims to develop a a haphaplotype lotype mapmap ( (HapMapHapMap) of ) of the human genome, which will the human genome, which will describe the common patterns of describe the common patterns of human genetic variationhuman genetic variation

HapMap is a key resource for HapMap is a key resource for researchers to find genetic variants researchers to find genetic variants affecting health, disease and affecting health, disease and responses to drugs and responses to drugs and environmental factors environmental factors

Encode DNAEncode DNA   Encyclopedia of DNA ElementsEncyclopedia of DNA Elements ( (ENCODEENCODE ) ) The goal is to find all functional elements in the human genome The goal is to find all functional elements in the human genome On 5 September 2012, initial results of the project were releasedOn 5 September 2012, initial results of the project were released These publications combine to show that approximately 20% These publications combine to show that approximately 20%

of noncoding DNA in the human genome is functional while an of noncoding DNA in the human genome is functional while an additional 60% is transcribed with no known function.additional 60% is transcribed with no known function.

These results demonstrate that gene regulation is far more complex These results demonstrate that gene regulation is far more complex than previously believed. than previously believed.

Human Genome Project Human Genome Project YESTERDAYYESTERDAY Just a half-century ago, very little was known about the genetic factors that contribute Just a half-century ago, very little was known about the genetic factors that contribute

to human disease to human disease

The Human Genome project spurred a revolution in biotechnology innovation around The Human Genome project spurred a revolution in biotechnology innovation around the worldthe world

In April 2003, researchers successfully completed the Human Genome Project In April 2003, researchers successfully completed the Human Genome Project

TODAYTODAY The Human Genome Project has already fueled the discovery of more than 1,800 The Human Genome Project has already fueled the discovery of more than 1,800

disease genes disease genes

As a result of the Human Genome Project, today’s researchers can find a gene 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 suspected of causing an inherited disease in a matter of days, rather than the years it

took before the genome sequence was in handtook before the genome sequence was in hand

TOMORROWTOMORROW An ambitious new initiative, The Cancer Genome Atlas aims to identify An ambitious new initiative, The Cancer Genome Atlas aims to identify

all the genetic abnormalities seen in 50 major types of cancer. all the genetic abnormalities seen in 50 major types of cancer.

Based on a deeper understanding of disease at the genomic level, we will Based on a deeper understanding of disease at the genomic level, we will see a whole new generation of targeted interventions, many of which see a whole new generation of targeted interventions, many of which will be drugs that are much more effective and cause fewer side will be drugs that are much more effective and cause fewer side

effects than those available today.effects than those available today.

ThankThank youyou