Organization Of HumanGenome

1. ORGANIZATION
OF HUMAN
GENOME

2. CONTENT-
 GENOME.
 FLOW CHART OF HUMAN GENOME.
 NUCLEAR GENOME.
 MITOCHONDRIAL GENOME.
 REPETITIVE DNA.

3. What is Genome ?
 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.
 The genome includes
both the genes and
the non-coding
sequences of the
DNA/RNA.

4. “Genome is thus the entire collection of genes and all other
functional and non functional DNAsequences in an
organism in a haploid set of chromosomes”.
 Structural genes- DNA segments that code for some
specific RNAs or proteins. Encode for mRNAs, tRNAs ,
snRNAs, scRNAs.
 Functional sequences- Regulatory sequences- occur as
regulatory elements (initiation sites, promoter sites ,
operator sites , etc.)
 Nonfunctional sequences- Introns and repetitive
sequences. Needed for coding, regulation and
replication of DNA. Much more in no than functional
sequences.

8. DIFFRENCE :-
NUCLEAR DNA MITOCHONDRIAL DNA
 Found inside the nucleus.
 75% Nuclear DNA.
 Less Mutation.
 Linear shape.
 Few copies of nuclear
DNA in nucleus of cell.
 Found inside mitochondria
 25% Mitochondrial DNA.
 20 times more mutation .
 Circular shape.
 1000 of mitochondrial
copies in mitochondria.

10. NUCLEAR GENOME
 Nuclear DNA, is DNA contained within a nucleus
of eukaryotic organisms. Nuclear DNA encodes
for the majority of the genome in eukaryotes,
with DNA located in mitochondria and plastids .
 Nuclear DNA adheres to Mendelian inheritance,
with information coming from two parents, one
male and one female, rather than matrilineally, as
in mitochondrial DNA.

11. MITOCHONDRIALGENOME:
 MITOCHONDRIAL GENOME
 At just 16,569 bp
 Contains just 37 genes.
 13 of these genes code for proteins involved in
the respiratory complex
 The other 24 specify non-coding RNA
molecules that are required for expression of
the mitochondrial genome.

14. REPETITIVE DNA
 The proportion of repetitive DNA is calculated by
using length of repetitive DNA divide by genome
size. There are two categories of repetitive DNA in
genome:
1. tandem repeats and
2. interspersed repeats.

15. 1.Tandem repeats:
Are usually caused by slippage
during replication, unequal
crossing-over and gene conversion,
satellite
DNA and microsatellites are forms
of tandem repeats in the genome.
2. Interspersed repeats:
Mainly come from transposable
elements (TEs), but they also
include some protein coding gene
families and pseudogene.

16. SATELLITE DNA:
 Found in Eukaryotes.
 Satellite DNA consists of very large arrays
of tandemly repeating, non-coding DNA .
 Satellite DNA is the main component of
functional centromeres , and form the main
structural constituent of heterochromatin]

17. MINISATELLITE DNA:
 A minisatellite is a tract of repetitive DNA in
which certain DNA motifs (ranging in length from
10–60 base pairs) are typically repeated 5-50
times.
 Minisatellites occur at more than 1,000 locations
in the human genome and they are notable for
their high mutation rate and high diversity in the
population.
 Minisatellites are prominent in the centromeres
and telomeres of chromosomes, the latter
protecting the chromosomes from damage.

18. MICROSATELLITE DNA:
 A microsatellite is a tract of repetitive DNA in
which certain DNA motifs (ranging in length
from 2–5 base pairs) are repeated, typically 10-
100 times.
 Microsatellites occur at thousands of locations
in the human genome and they are notable for
their high mutation rate and high diversity in the
population.

19. TRANSPOSABLE ELEMENTS:
 A transposable element (TE or transposon) is
a DNA sequence that can change its position
within a genome, sometimes creating or
reversing mutations and altering the
cell's genome size.
 Transposition often results in duplication of the
TE. Barbara McClintock's discovery of
these jumping genes earned her a Nobel Prize in
1983.

20. LINEs
 Long Interspersed Nuclear
Elements (LINE) are a group of genetic
elements that are found in large numbers in
eukaryotic genomes, comprising 17% of the
human genome (99.9% of which is no longer
capable of retrotransposition, (is considered
"dead" or inactive)).
 Among the LINE, there are several subgroups,
such as L1, L2 and L3.

22.  Retrotransposons:
can be transcribed into RNA, which are then duplicated at
another site into the genome . Retrotransposons can be divided
into Long terminal repeats (LTRs) and Non-LongTerminal
Repeats (Non-LTR).

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