Structure and organization of human genome

Mitochondrial genome
Nuclear genome

Essential genetic information.

26000 genes
3 billion- 3.2 billion base pairs
Autosomal chromosomes & sex chromosomes
Classification of chromosomes
Largest and Smallest Chromosomes
Euchromatin & heterochromatin
Structure of chromosome
Non-coding DNA

Pseudogenes
Introns
Non-coding functional RNAs
Untranslated regions of mRNA (3UTRs and 5UTRs)
Some regulatory DNA sequences like cis and trans regulatory elements,
enhancers, repressors and promotors etc.
Pseudogenes

Non-functional genes present in the genome are termed as pseudogenes

They have great sequence homology with functional parent genes
Greek letter: letter psi ()
HBBP1 is a pseudogene which is a version of gene which encodes beta chain
of human hemoglobin
Processed pseudogenes
Non-processed pseudogenes
Nonprotein-Coding RNAs
Repetitive DNA

Repetitive DNA can be divided into two categories

Tandemly Repeated DNA: constitutes 3% of human genome.

Interspersed Repeats : constitute about 45% of human genome
Classes of Tandem Repeats

Satellite DNA : hundreds of kilobases in length

with repeat unit lengths ranges from 5 to 171.
Minisatellites : Up to 20 kb in length, with
repeat units up to 25 bp in length
Microsatellites: usually less than 150 bp,
with the repeat unit, usually 1-13 bp or less.
Most microsatellite DNA has a repeat length
of 1-4 base pairs
Interspersed Repeats

LTR ~ 8%
Long terminal
repeats
Class I 42%
SINEs 13%
RETROTRANSPOSONS
TRANSPOSONS
Non LTR 34%
45%
Class II 3%
DNA transposons LINEs 21%
DNA Transposons vs Retrotransposons
LTR vs non-LTR retrotransposons

o LTR retrotransposons are flanked by long

terminal repeats

o Non-LTR retrotransposons are not flanked

by long terminal repeats
SINEs (Short Interspersed Elements)
LINEs (Long Interspersed Elements)
Conclusion

Human genome structural organization is very important in order:

To fit inside the small nuclear region
For the proper execution of gene expression programs and other biological
processes e.g., DNA replication and cell duplication.
Moreover the different elements in human genome are present in the genome in
different proportions and have their own importance
Genetic mapping
Forensics
DNA fingerprinting
Understanding evolution
Studying relationships among different populations