THE HUMAN GENOME

 Genome:
It is a complete set of genetic information
(DNA and also includes all of its genes)
and refers to the haploid number of chromosomes
in a cell of a specie.
 Significance:
It contains all the information to build and maintain the cell.
It palys all the functions that an organism reqiured .
 Characteristics of Human
Genome

 Genome is stored into large molecule of DNA and protein called

Chromosome.
 Each cell’s genome contained in a double membrane bound organelle
called Nucleus.
 A copy of the entire genome contain more than 3 billion DNA base
pairs.
 THUS
Human genome is the entire collection of genes and all other
functional and non functional DNA sequences in an organism in a haploid
set of chromosomes…
Arrangemet of human nuclear
genome
Human Genome= 22 Autosome
chromosome + 2 sex chromosome
(X and Y ) + circular Genome of
Mitochondria

 16,600 base pairs are packaged in one circular chromosome.

 Human genome consist of mitochondrial and nuclear
genome.
1. Nuclear DNA :
* it encodes majority of the genome in eukaryotes
* it follows Mendelian Inheritance information coming
from both of the parents.
 3 billion base pairs are package into
chromosome

* Genome is linear and mutations in coding

regions are
rare. It is of Two Types.
1- Euchromatin
2- Hetrochromatin
it is divided as coding genome and non coding
genome.
 Mitochondrial Genome

* Genome is circular
* Contains almost 37 genes
* 1000 of copies of DNA
* Mutation rate is 20 times
of nuclear genome
* Responsible for Matrilineal inheritance
Heridity pattren of both type
genome.
 ~Organization of Nuclear
Genome

 Structural Genes :
DNA segments that codes for some specific RNAs or proteins and any
other functional unit..(mRNA, tRNA, snRNA , sc RNAs. Etc).
 Functional sequences
Regulatory sequences suh as (initiation sites, promotor sites and operator
sites).
 Non Functional sequences :
Introns and repetitive sequences neede for coding , regulation and
replication of DNA much more tham the functional sequences.
Only 1% genome of a human is
conding The remaining is the junk
DNA.
Repetitive DNA.

 It consist of highly repeated sequences of nuncleotides

There are two categories of repetitive DNA in genome...
1. Tandem repeats
2. Interspersed repeats.
Interspersed Repeats.
 Mainly due to transposable elements.
 Also including pseudo genes.
 Tandem Repeats.

 These are associated with non coding DNA and occur when a pattren of
teo or more nucleotides repeats in such a way that they are dirctly
adjacent to each other .
 Satellite DNA

 It consist of very large array of tandemly repeating, non coding DNA.

it Is a main component of functional centromere

and forms constituent of Hetrochromatin.

MINISATELLITE DNA:
 it is repetitive sequences of DNA ranging in length from 10 to 60 nucleotides that typically
repeated 5 to 50 times.

these are prominent in Telomeres and are notable

for high mutation rate .

Regions in the chromosome where Satellite
DNA present.
Microsatellite DNA:
 Repetitive sequences of DNA that ranges in length from 2 to 5 base
pairs and repeated typically 10 to 100 times.
it occurs at the thousand of the location in
human genome.
These satellite DNA cause diversity in population due to having a
greater rate in muataions ..
 Transposable Elements.

~ These are the DNA sequences that can change their

position within the genome.
These elements result in:
• Alternation of cell genome size
• Reverse Mutations
Transposition often cause duplication of Transposable elements.
These Elementa also called as Jumping Genes.
Types of TE.
Retrotransposis.
Long interspersed Nuclear
Elements.
Pectoral representation
Non coding genome.
THE END.