Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
©2005 J.K. Pal
Genome Size and number of genes
©2005 J.K. Pal
Genome size
(Log scale)
©2005 J.K. Pal
Genome Size And Chromosome Numbers
Of Eukaryotic Organisms
©2005 J.K. Pal
Organization Of Genome
Purpose?
(Structure-Function relationship)
Maintenance of genome integrity &
genome transfer (Inheritance)
©2005 J.K. Pal
Denaturation and Renaturation
● Heating double stranded DNA can overcome the
hydrogen bonds holding it together and cause the
strands to separate resulting in denaturation of
the DNA
● When cooled relatively weak hydrogen bonds
between bases can reform and the DNA
renatures it on
Denatured DNA Re
na
tu ra ATGAGCTGTACGATCGTG tura
n a tio
De n
ATGAGCTGTACGATCGTG ATGAGCTGTACGATCGTG
TACTCGACATGCTAGCAC TACTCGACATGCTAGCAC
Double stranded DNA Double stranded DNA
TACTCGACATGCTAGCAC
Single stranded DNA ©2005 J.K. Pal
DNA Reassociation Kinetics
1.0
Fraction Prokaryotic DNA
remaining
single Repetitive
DNA Unique
stranded sequence
0.5
(C/Co) complex
Eukaryotic DNA
DNA
0
104 103 102 101 1 101 102 103 104
Cot (mole x sec./l)
©2005 J.K. Pal
Type of DNA % of Genome Features
Repetitive
Interspersed ~15% Interspersed throughout genome between
and within genes; includes Alu sequences 2
and VNTRs or mini (micro) satellites
©2005 J.K. Pal
©2005 J.K. Pal
What are Genes?
● The one gene one enzyme hypothesis has been
refined to mean each gene codes for a
polypeptide/RNA
● Things get fuzzy when a specific locus codes for
more than one polypeptide
● For the purposes of this class, we will define a
gene as the entire DNA sequence that is
necessary for the synthesis of a functional
polypeptide/RNA. In addition to the coding regions
(exons), a gene includes transcription control regions
and sometimes introns.
©2005 J.K. Pal
©2005 J.K. Pal
Structure of a typical eukaryotic gene
©2005 J.K. Pal
Protein Coding Genes May Be Solitary Or
Belong To A Gene Family
About half of the protein coding genes in vertebrate genomic DNA
are solitary genes (occurs only once in the haploid genome).
The remainder are duplicated genes, which arose by duplication
of an ancestral gene and subsequent independent mutations.
Duplicated genes encode closely related proteins and generally
appear as a cluster in a particular region of DNA.
The proteins encoded by a gene family have homologous but
nonidentical amino acid sequences and exhibit similar but slightly
different properties.
©2005 J.K. Pal
©2005 J.K. Pal
©2005 J.K. Pal
The Globin Gene Family
● Globin genes code for the α
β
protein portion of hemoglobin
● In adults, hemoglobin is made
Fe
up of an iron containing heme
molecule surrounded by 4
globin proteins: 2 α globins
and 2 β globins α β
● During development, different globin genes are
expressed which alter the oxygen affinity of
embryonic and fetal hemoglobin
©2005 J.K. Pal
©2005 J.K. Pal
©2005 J.K. Pal
Locus Control Regions (LCR) and regulation of globin gene expression
©2005 J.K. Pal
MECHANISM OF FORMATION OF PROCESSED PSEUDOGENES
©2005 J.K. Pal
β GLOBIN GENE CLUSTERS IN VERTEBRATES
©2005 J.K. Pal
EVOLUTION OF GLOBIN GENES
©2005 J.K. Pal
Model For Evolution Of The Globin Gene
Family
Ancestral
Globin gene
Duplication
Mutation
α β
Chromosome 16 Transposition Chromosome 11
α β
Duplication and Mutation
ζ α ε γ β
Duplication and Mutation
ζ ψζ ψα2 ψα1 α2 α1 ψθ ε Γγ Αγ ψβ δ β
Embryo Fetus and Embryo Fetus Adult
Adult
Pseudo genes (ψ) resemble genes, but may lack introns and, along with other
differences typically have stop codons that come soon after the start codons.
©2005 J.K. Pal
DELETION OF βGLOBIN GENE CLUSTERS & THALASSEMIA
©2005 J.K. Pal
Gene Duplication By Unequal Crossing Over
©2005 J.K. Pal
TYPES OF THALASSEMIA
©2005 J.K. Pal
©2005 J.K. Pal