Documente Academic
Documente Profesional
Documente Cultură
A gene is a unit of
inheritance occupying
a specific site (locus)
on a chromosome,
which is associated
with regulatory
regions, transcribed
regions and/or other
functional sequence
.regions
Chromosomes
Chromosomes
Transcription copies the DNA code of a gene and converts it to messenger RNA (m RNA). The m
RNA will be used at the ribosome to make polypeptides (proteins). However all of the code
contained in the m RNA molecule is not needed to produce the polypeptide. The sections of m
RNA which do not code for translation of polypeptide are called introns. As the m RNA readies
itself to leave the nucleus, enzymes cut out and remove the introns. The remaining exons are
spliced back together again by a different enzyme. This modified m RNA is what comes to the
.ribosome to be translated into polypeptides
The mature mRNA transcript can now leave the nucleus for the cytoplasm
mRNA copy
UUU
UUC
U
UUA
C
Phe
Leu
UCU
UAU
UCC
UAC
UCA
Ser
UAA
UUG
UCG
UAG
CUU
CCU
CAU
CUC
CUA
Leu
CCC
CCA
Pro
CAC
CAA
CUG
CCG
CAG
AUU
ACU
AAU
ACC
AAC
AUC
Ile
AUA
AUG
ACA
Met
GUU
G
GUC
GUA
GUG
Val
Thr
AAA
ACG
AAG
GCU
GAU
GCC
GCA
GCG
Ala
GAC
GAA
GAG
G
Tyr
STOP
His
Gln
Asn
Lys
Asp
Glu
UGU
UGC
Cys
UGA
STOP
UGG
Trp
CGU
CGC
CGA
Arg
CGG
AGU
AGC
AGA
AGG
Ser
Arg
GGU
GGC
GGA
GGG
Gly
Elongation: It is the process where special elongation proteins assist a new tRNA and its . 2
associated amino acid to bond to the complementary codon on mRNA. Ultimately, this helps
.lengthen (elongate) the polypeptide chain
As the large ribosomal unit sets in place, the second codon on mRNA is exposed (in this case,
the codon is CAU). This exposed site is known as the A site. At this point, a special protein unit
known as the elongation factor assists the 2nd tRNA to bond to this newly exposed codon. The
GUA of the antidodon (t RNA) bonds to the codon of CAU. At this point, the newly arrived amino
acid (his) is lined up next to the 1st amino acid (met). An enzyme binds both amino acids via
. dehydration synthesis (loss of water) bonding
When the 1st two amino acids have bonded, the first tRNA leaves the mRNA/ ribosomal complex
5. Release of polypeptide: The release factor (not shown in this diagram) prevents further
reading of the mRNA message. The polypeptide molecule is released from the ribosomal units.
The mRNA and the large and small ribosomal units are thus free to begin the translation
process again.
http://www.johnkyrk.com/DNAtranslation.html
DNA replication
Replication fork
http://www.johnkyrk.com/DNAreplication.html
Mutations
UUU
UUC
U
UUA
C
Phe
Leu
UCU
UAU
UCC
UAC
UCA
Ser
UAA
UUG
UCG
UAG
CUU
CCU
CAU
CUC
CUA
Leu
CCC
CCA
Pro
CAC
CAA
CUG
CCG
CAG
AUU
ACU
AAU
ACC
AAC
AUC
Ile
AUA
AUG
ACA
Met
GUU
G
GUC
GUA
GUG
Val
Thr
AAA
ACG
AAG
GCU
GAU
GCC
GCA
GCG
Ala
GAC
GAA
GAG
G
Tyr
STOP
His
Gln
Asn
Lys
Asp
Glu
UGU
UGC
Cys
UGA
STOP
UGG
Trp
CGU
CGC
CGA
Arg
CGG
AGU
AGC
AGA
AGG
Ser
Arg
GGU
GGC
GGA
GGG
Gly
Chromosomes
Chromosomal abnormalities
Chromosomal abnormalities
An inversion is when a
segment of a
chromosome is broken in
two places and reversed
then put back into the
chromosome
A duplication is when a
segment of the DNA is
duplicated. (May be no
harmful phenotypic effect
present or may be harmful
like duplication of protooncogene expression)
Chromosomal abnormalities
/http://nobelprize.org/educational_games/medicine/2001
p21, p27 and p53 and un-phosphorylated Rb cause cell cycle arrest
http://www.johnkyrk.com/mitosis.html
Meiosis
Meiosis is the type of cell division by which germ cells (eggs and
sperm) are produced. Meiosis involves a reduction in the amount of
.genetic material
Meiosis comprises two successive nuclear divisions with only one round
of DNA replication.
.Four stages can be described for each nuclear division
Meiosis differs from mitosis primarily because there are two cell divisions
.in meiosis, resulting in cells with a haploid number of chromosomes
Chromosomal abnormalities
Meiosis
Meiosis
Mendelian Genetics
:Gregor Mendel
Austrian monk
Scientist
Pea farmer
Mendels experiments
refuted the blending
concept of inheritance.
Basic Terminology
Alleles-alternate forms of a gene.
Terminology
Genotype
Phenotype
Dominant trait
Recessive trait
Zygote
Homozygous
Heterozygous
F1
generation
ratios
.Phenotype
Pedigree Trees
Obviously, it wouldnt be
ethical to do test-crosses
on humans! We record
human genetic
information in a pedigree.
A pedigree is a family tree
that follows inheritance of
a genetic trait for many
generations of relative.
Concepts in inheritance
Dominant and recessive: Huntingdons
(D); Cycstic fibrosis (R)
Co-dominance: ABO blood group
Incomplete dominance: pink flowers
Diseases:
Autosomal recessive
Autosomal dominant
Polygenic inheritance
Examples: Cystic
Fibrosis,
Phenylketonuria
(PKU)
Huntington Disease
and
Neurofibromatosis,
for example
Polygenic inheritance
Epistasis and Gene Modifiers
Concepts in inheritance
Polygenic inheritance
Pleiotropy: e.g. ion transmembrane channel and
muscular dystrophy
Epistasis : e.g. transcription factor control
Sex-linked inheritance: colour blindness, muscular
dystrophy
X-inactivation and barr bodies
Environmental effects on
genetics
Chromosomal anomalies.
Environmental control of phenotype (heat
sensitive tyrosinase expression in Himalayan
rabbits cats white coat (+33C); tyrosinase
inactive, white pigment)
Gene therapy (SCID)
Sex determination and sex linked genes
(Interleukins and X-linked SCID).
Genetically modified organisms (Pectinase)
Ethical and safety issues in gene manipulation