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“Unwinding the helical mystery” By IFFAT FATIMA
The Human Genome
• The human genome is by far the most complex and largest genome. • Its size spans a length of about 6 feet of DNA, containing 30,000 to 40,000 genes. • The DNA material is organized into a haploid chromosomal set of 22 and a sex chromosome.
the basic physical and functional units of heredity. complex molecules made up of smaller subunits called amino acids. Proteins are large. Proteins perform most life functions and even make up the majority of cellular structures.Each chromosome contains many genes. . Genes are specific sequences of bases that encode instructions on how to make proteins. A protein folds up into specific three-dimensional structure that define their particular functions in the cell.
■ improve tools for data analysis. ■ store this information in databases. ■ determine the sequences of the 3 billion chemical base pairs that make up human DNA.Human Genome Project ■ identify all the approximate 30.000 genes in human DNA. .
Produce a resource of detailed information about the structure organization and function of human DNA.000 – 100.000 genes within the human genome. Construct detailed genetic and physical maps of the human genome. 2. Perform similar analyses on the genomes of other organisms used as model systems in research. 3. information that constitutes the basic set of inherited “instructions” for the development and functioning of a human being. . 4. Determine the complete nucleotide sequence of human DNA. To localize the „estimated‟ 50.The Human Genome Project (HGP) An international research program designed to: 1. 5.
S. Department of Energy and the National Institutes of Health ■June 2000: Completion of a working draft of the entire human genome ■February 2001: Analyses of the working draft are published ■April 2003: HGP sequencing is completed and Project is declared finished two years ahead of schedule .Human Genome Project-Milestones: ■1990: Project initiated as joint effort of U.
Whose DNA is being sequenced? • Used samples from of blood (female) and sperm (male) from a large number of people. • The donor identities were protected. • Celera Genomics collected samples from individuals who were Hispanic. Asian. . Caucasian. and African-American.
Stages of Human Genome Project The project had three stages: • Genetic (or linkage) mapping • Physical mapping • DNA sequencing .
1. Genetic Linkage Maps • A linkage map (genetic map) maps the location of several thousand genetic markers on each chromosome • A genetic marker is a gene or other identifiable DNA sequence • Recombination frequencies are used to determine the order and relative distances between genetic markers .Map Creation • The first step towards sequencing the genome is creating maps.Step .
Cytogenetic map Genes located by FISH Chromosome bands 1 Linkage mapping Genetic markers Physical mapping Overlapping fragments 2 3 DNA sequencing .
A CLOSER LOOK AT THE HUMAN GENOME Chromosome no No of Genes No of Bp (million) 240 bp 240 bp 200 bp 190 bp 180 bp 170 bp Percentage determined 90 % 95% 95% 95% 95% 95% Chromosome 1 3000 genes Chromosome 2 2500 genes Chromosome 3 1900 genes Chromosome 4 1600 genes Chromosome 5 1700 genes Chromosome 6 1900 genes .
Chromosome no Chromosome 7 Chromosome 8 Chromosome 9 Chromosome 10 Chromosome 11 Chromosome 12 No of Genes No of Bp (million) 150 bp 140 bp 130 bp 130 bp Percentage determined 95% 95% 85% 95% 1800 genes 1400 genes 1400 genes 1400 genes 2000 genes 130 bp 95% 1600 genes 130 bp 95% .
Chromosome no Chromosome 13 No of Genes No of Bp (million) 110 bp 100 bp Percentage determined 80% 80% 800 genes Chromosome 14 1200 genes Chromosome 15 1200 genes 100 bp 90 bp 80 bp 70 bp 80% 85% 95% 95% Chromosome 16 1300 genes Chromosome 17 Chromosome 18 1600 genes 600 genes .
Chromosome no Chromosome 19 Chromosome 20 Chromosome 21 Chromosome 22 Chromosome X Chromosome Y No of Genes No of Bp (million) 60 bp 60 bp 40 bp 40 bp 150 bp 50 bp Percentage determined 85% 90% 70% 70% 95% 50% 1700 genes 900 genes 400 genes 800 genes 1400 genes 200 genes .
. 3 Sequence each fragment. 4 Order the sequences into one overall sequence with computer software.1 Cut the DNA into overlapping fragments short enough for sequencing 2 Clone the fragments in plasmid or phage vectors.
A complete haploid set of human chromosomes consists of 3.2 billion base pairs .
.... • Automated DNA Sequencing The technique makes use of at least four different fluorescent dyes that attach specifically to either adenine. thymine...reveal a unique pattern ("fingerprint")......Some Techniques Used in the Genome Project • Restriction Fragment Length Polymorphisms (RFLPs) Restriction enzyme is specific to a certain base sequence and will cut DNA at all such sites to produce a number of "restriction fragments .... guanine or cytosine. Polymerase Chain Reaction (PCR) . Restriction fragments are tagged with dye..
Restriction Fragment Length Polymorphism (RFLP) • RFLP demonstrate polymorphic sequence variations that result in DNA fragments of different sizes following restriction digestion. Person A Person B .
Each repeat unit contains ~11 to 60 bp.Variable Number of Tandem Repeat (VNTR) • VNTR reflect polymorphic sequences of DNA which contain repeating sequences which vary in number. • Person A • Person B • Person C .
STR occur frequently in the human genome. Person A Person B Person C . or tetranucleotides which are usually repeated ~5 to 30 times.Short Tandem Repeat (STR) • STR are polymorphisms based on differences in lengths of DNA tracts composed of tandemly repeated di-. The most encountered STR consists of dinucleotide CA. Estimated to occur every 30 to 60 kb for CA repeats. tri-.
roughly every 500 to 1000 bp and are distributed in relatively uniform fashion. SNPs occur relatively frequently.Single-nucleotide Polymorphism (SNP) • SNP reflect polymorphic sequences which possess a single base variant at a particular site. Person A Person B . In the human genome.
Different methods and Uses Method DNA sequencing Usage Physical map of DNA can be identified with highest resolution. Fragment genome into large pieces & to locate markers & genes. To amplify gene fragments. A variety of STS mapping .expressed genes are located. Use of Probes Radiation Hybrid Mapping Flourescence in situ hybridization (FISH) Sequence Tagged size Mapping Expressed Sequence Tagged maping PCR To identify RELPs. To localize a gene on chromosomes Applicable to any part of DNA sequences. . SNPS.
About the human genome Only 1.5% codes for proteins. rRNA and tRNA The rest is used for • regulatory sequences and introns 24% • pseudogenes (nonfunctioning genes) 15% • repetitive DNA 59% .
Short Tandem Repeats often used in centromeres and telomeres . RT to DNA.Transposons . copy to RNA.Repetitive DNA 44% transposable elements (jumping genes) .cut and paste - Most of these are retrotransposons – cut. and paste (ex Line1 or L1) - 15% – large segment and simple sequence DNA small ones STR .
Repetitive DNA that includes transposable elements and related sequences (44%) Introns and regulatory sequences (24%) L1 sequences (17%) Alu elements (10%) Repetitive DNA unrelated to transposable elements (15%) Unique noncoding DNA (15%) .
000. • • Almost all (99. but sizes vary greatly. with the largest known human gene being dystrophin at 2.000--much lower than previous estimates of 80. T.4 million bases. .9%) nucleotide bases are exactly the same in all people.000 to 140. • The average gene consists of 3000 bases. The functions are unknown for over 50% of discovered genes. C. • The total number of genes is estimated at around 30. and G).By the Numbers • The human genome contains 3 billion chemical nucleotide bases (A.
• Stretches of up to 30. GC. with vast expanses of noncoding DNA between. • Genes appear to be concentrated in random areas along the genome. forming a barrier between the genes and the "junk DNA. . and the Y chromosome has the fewest (231).000 C and G bases repeating over and over often occur adjacent to gene-rich areas. • Chromosome 1 has the most genes (2968).How It's Arranged • The human genome's gene-dense "urban centers" are predominantly composed of the DNA building blocks G and C." These CpG islands are believed to help regulate gene activity.and AT-rich regions usually can be seen through a microscope as light and dark bands on chromosomes. • In contrast. the gene-poor "deserts" are rich in the DNA building blocks A and T.
creating entirely new genes. these repeats reshape the genome by rearranging it. but they shed light on chromosome structure and dynamics. . the worm (7%). and the fly (3%). and modifying and reshuffling existing genes. • Repetitive sequences are thought to have no direct functions. • Repeated sequences that do not code for proteins ("junk DNA") make up at least 50% of the human genome.• Less than 2% of the genome codes for proteins. Over time. • The human genome has a much greater portion (50%) of repeat sequences than the mustard weed (11%).
THANKS By IFFAT FATIMA .PHILL Bio Chemistry . Roll No : 08 M.
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