Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
Human Genome
Each chromosome contains many genes, the basic physical and functional units of heredity.
Genes are specific sequences of bases that encode instructions on how to make proteins.
Proteins perform most life functions and even make up the majority of cellular structures. Proteins are large, complex molecules made up of smaller subunits called amino acids. A protein folds up into specific three-dimensional structure that define their particular functions in the cell.
4.
5.
Chromosome bands
DNA sequencing
Chromosome 1 3000 genes Chromosome 2 2500 genes Chromosome 3 1900 genes Chromosome 4 1600 genes Chromosome 5 1700 genes Chromosome 6 1900 genes
No of 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 15
1200 genes
100 bp
90 bp 80 bp 70 bp
80%
85% 95% 95%
No of Genes
No of Bp (million) 60 bp 60 bp 40 bp 40 bp 150 bp 50 bp
1700 genes 900 genes 400 genes 800 genes 1400 genes 200 genes
Cut the DNA into overlapping fragments short enough for sequencing
3 Sequence each
fragment.
4 Order the
sequences into one overall sequence with computer software.
A complete haploid set of human chromosomes consists of 3.2 billion base pairs
Person A Person B
Person A Person B
Use of Probes
Radiation Hybrid Mapping Flourescence in situ hybridization (FISH) Sequence Tagged size Mapping Expressed Sequence Tagged maping PCR
The rest is used for regulatory sequences and introns 24% pseudogenes (nonfunctioning genes) 15% repetitive DNA 59%
Repetitive DNA
44% transposable elements (jumping genes) - Transposons - cut and paste
Most of these are retrotransposons cut, copy to RNA, RT to DNA, and paste (ex Line1 or L1)
15% large segment and simple sequence DNA small ones STR - Short Tandem Repeats often used in centromeres and telomeres
Repetitive DNA that includes transposable elements and related sequences (44%)
L1 sequences (17%)
By the Numbers
The human genome contains 3 billion chemical nucleotide bases (A, C, T, and G). The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases.
The total number of genes is estimated at around 30,000--much lower than previous estimates of 80,000 to 140,000.
Almost all (99.9%) nucleotide bases are exactly the same in all people. The functions are unknown for over 50% of discovered genes.
Less than 2% of the genome codes for proteins. Repeated sequences that do not code for proteins ("junk DNA") make up at least 50% of the human genome. Repetitive sequences are thought to have no direct functions, but they shed light on chromosome structure and dynamics. Over time, these repeats reshape the genome by rearranging it, creating entirely new genes, and modifying and reshuffling existing genes. The human genome has a much greater portion (50%) of repeat sequences than the mustard weed (11%), the worm (7%), and the fly (3%).
THANKS
By IFFAT FATIMA ; Roll No : 08 M.PHILL Bio Chemistry