An Introduction to Genetics

RIFAT ALI KHESHGI

Student at
NWFP AGRICULTURAL
UNIVERSITY PESHAWAR
Cell # 03139556067
 Human Genome

■ Genome structure
■ Chromosome/Gene/DNA

■ Protein Synthesis
■ Transcription and Translation
■ DNA Replication /Cell Division
■ Mitosis and Meiosis
■ Mutations
Human Genome
 The Human Genome

9
■ The human genome is made up of 3 x 10
base pairs of DNA (haploid genome)

■ This contains 30,000 genes arranged on 46

chromosomes

■ Packaged within the nucleus of the cell

 Chromosomes
 Long strands of DNA packaged and
compressed very tightly
 Everyone has 2 copies of each chromosome
1 pair of each of the 22 ‘autosomes’
• plus XX for a female (46XX)
• or XY for a male (46XY)
 DIPLOID GENOME
 Chromosomes in Metaphase

Telomere
Short arm (p)
Centromere

Long arm (q)

Telomere
 Genes – 30 000
■ Segments of DNA code that provide the
instructions for the manufacture of a protein
by the cell

■ One gene encodes for one protein (or part of)

 DNA (DeoxyriboNucleic Acid)
2 major functions
 Direction of all protein synthesis

 Accurate transmission of this information from one

generation to the next

Fundamental to
 Cell metabolism

 Cell division
Chromosomes and Inheritance

■ 1 from Mother, 1 from Father

■ Eggs cells contain 23 chromosomes
■ One of each autosome
■ One X chromosome
■ Sperm cells contain 23 chromosomes
■ One of each autosome
■ One sex determining chromosome (an X or Y)
■ Haploid cells (cells containing only one copy of
the genome)
Chromosomes and Inheritance

■ 1 from Mother, 1 from Father

■ Eggs cells contain 23 chromosomes
■ One of each autosome
■ One X chromosome
■ Sperm cells contain 23 chromosomes
■ One of each autosome
■ One sex determining chromosome (an X or Y)
■ Haploid cells (cells containing only one copy of
the genome)
Chromosomes and Inheritance

■ 1 from Mother, 1 from Father

■ Eggs cells contain 23 chromosomes
■ One of each autosome
■ One X chromosome
■ Sperm cells contain 23 chromosomes
■ One of each autosome
■ One sex determining chromosome (an X or Y)
■ Haploid cells (cells containing only one copy of
the genome)
 DNA (DeoxyriboNucleic Acid)
 String of deoxyribose sugars joined
by phosphate groups.

 Each sugar is attached to one of 4

possible nucleotide bases
 ADENINE (A),
 CYTOSINE (C ),
 GUANINE (G) or
 THYMINE (T)
 DNA
■ Double helix structure
■ 2 strands are held together by
hydrogen bonds
■ 4 bases pairing rule
o Adenine = Thymine (A = T)
o Guanine = Cytosine (G = C)
 DNA Base Pairing

A G C G A T C T G
G
T C G C T A G A C C

Double helix consists of 2 complimentary strands of DNA.

 DNA Replication
Semi – conservative replication

C
T ATC
G
A A TAG
ATC T
TAG
T A
DNA A T ATC
C TAG
unzips
Original double G
strand
DNA separates and replicates 2 new double strands
– each containing one parent
and one daughter strand
 The Genetic Code

 Every three bases of DNA is called a

‘codon’

 Each codon specifies an amino acid

 Codons specify amino acid sequence of

protein
 Amino Acid Code
•64 possible triplet codons
•Only 20 amino acids
•Code is “degenerate or redundant”
Alanine Ala A Leucine Leu L
Arginine Arg R Lysine Lys K
Asparagine Asn N Methionine Met M
AsparticAcid Asp D Phenylalanine Phe F
Cysteine Cys C Proline Pro P
Glut
amine Gln Q Serine Ser S
GlutamicAcid Glu E Threonine Thr T
Glycine Gly G Tryptophan Trp W
Histidine His H Tyrosine Tyr Y
Isoleucine Ile I Valine Val V
 Codons
DNA

ATCACCTTCTCCAAGCTCTGA Sequence

Codons

Protein
I T F S K L * Sequence
 Genetic Code

U URACIL C CYTOCINE A ADENINE G GUANINE

U UUU Phe (F) CUU Leu (L) AUU Ile [I] GUU Val [V] U
UUC Phe (F) CUC Leu (L) AUC Ile [I] GUC Val [V] C
UUA Leu (L) CUA Leu (L) AUA Ile [I] GUA Val [V] A
UUG Leu (L) CUG Leu (L) AUG Met [M] GUG Val [V] G
C UCU Ser (S) CCU Pro [P] ACU Thr [T] GCU Ala [A] U
UCC Ser (S) CCC Pro [P] ACC Thr [T] GCC Ala [A] C
UCA Ser (S) CCA Pro [P] ACA Thr [T] GCA Ala [A] A
UCG Ser (S) CCG Pro [P] ACG Thr [T] GCG Ala [A] G
A UAU Tyr [Y] CAU His [H] AAU Asn [N] GAU Asp [D] U
UAC Tyr [Y] CAC His [H] AAC Asn [N] GAC Asp [D] C
UAA Ter [end] CAA Gln [Q] AAA Lys [K] GAA Glu [E] A
UAG Ter [end] CAG Gln [Q] AAG Lys [K] GAG Glu [E] G
G UGU Cys [C] CGU Arg [R] AGU Ser [S] GGU Gly [G] U
UGC Cys [C] CGC Arg [R] AGC Ser [S] GGC Gly [G] C
UGA Ter [end] CGA Arg [R] AGA Arg [R] GGA Gly [G] A
UGG Trp [W] CGG Arg [R] AGG Arg [R] GGG Gly [G] G
 Gene Structure

Promoter Exons Introns

AUG UAA
start UAG ‘stop’
UGA

Exon = coding sequence

Intron= intervening sequence (non-coding)
Protein Synthesis

Messenger - RNA

DNA Code
 Protein Synthesis

transcription

DNA RNA Protein

translation
 Transcription
 Double DNA strands separate
 DNA sense strand acts as template and is
‘transcribed’ into messenger RNA (mirror
image of the DNA but Uracil instead of
Thymine)
 Introns are sliced out of the sequence
DNA ATCGG
UAGCC
mRNA
 Translation

 mRNA leaves the nucleus

 In the cytoplasm, ribosomes attach to
the mRNA ensuring the correct amino
acid, for each codon, is added to a
growing chain of amino acids which
forms the resulting protein.
 Transcription

RNA
polymerase

exon 1 2 3
intron 1 2
transcription
factors
5’ 3’
 Transcription

RNA
polymerase
exon 1 2 3
intron 1 2
transcription
factors
5’ 3’
 Transcription

5’GGAUUCGUGCUGCUAA

RNA
polymerase
exon 1 2 3
intron 1 2
transcription
factors

5’GGATTCGTGCTGCTAA
 Transcription

primary
transcript

exon 1 2 3 RNA
polymerase
intron 1 2
transcription
factors
 Transcription
mature mRNA AAAAAAAAAA

RNA splicing

primary
transcript

transcription
factors RNA
exon 1 2 3 polymerase
intron 1 2
promotor
 Translation
polyadenylation site
(AATAAA)

cap structure
AAAAAAAAA 3’

mRNA
molecule
5’ Ribosome

cytoplasm
 Translation
Peptide
chain

AAAAAAAAA 3’

mRNA
5’ molecule
Ribosome

cytoplasm
 splicing

National Human Genome Research Institute (NHGRI) http://www.nhgri.nih.gov/DIR/VIP/

by artist Darryl Leja
 The Human Genome
 Only ~5% of our DNA actually codes
for proteins. Little variation exists from
person to person.The remainder is
‘junk’
 ‘Junk’ DNA includes repetitive
sequences such as micro and
minisatellites. Varies a lot between
individuals allowing ‘DNA fingerprinting’
 DNA Replication and Cell Division
■ Mitosis
■ One cell produces 2 diploid daughter cells
■ Vital for tissue formation and maintenance

■ Meiosis
■ One cell produces haploid gametes
■ Vital for reproduction
Cell Cycle
 Meiosis

In the germ cells, egg and sperm,

it is essential there is only one
copy of each chromosome pair.
The process which results in this is
called ‘meiosis’.
 Mutations
■ A change in the DNA sequence of the gene
o Germline mutation (inherited)– present in
every cell in the body
o Somatic mutation (acquired) – present only
in the descendants of that cell
■ All cells acquire mutations as they divide
■ Mutations can alter protein product of
DNA, stop gene working or activate gene
 Types of Mutation
(in coding sequence)

AGC TTC GAC CCG Wild type

AGC TGA CCC G Deletion
AGC TTC CCG ACC CG Insertion
AGC TTC TTC TTC GAC CCG Expansion
ATC TGC GAC CCG Point mutation
ATC TGA Nonsense ‘stop’
 Human Genome
■ Genome structure
■ Chromosome/Gene/DNA

■ Protein Synthesis
■ Transcription and Translation
■ DNA Replication /Cell Division
■ Mitosis and Meiosis
■ Mutations
THE END