Genome Organization

and Gene Structure

NI NYOMAN AYU DEWI
D E PA R T ME N T O F B I O C H E M I ST R Y
FAC U LT Y O F M E D I C I N E U DAYA N A U N I V ER SI T Y
ayu.dewi@unud.ac.id
 TERMS…

GENE GENOME
physical and functional total genetic
unit of heredity, which information carried by
carries information from a cell or an organism
one generation to the next

CHROMATIN CHROMOSOME
structural unit of genetic material
complex of DNA, histone and
consisting of a single, linear
nonhistone proteins from which
double-stranded DNA molecule
eukaryotic chromosomes are formed
and associated proteins
✓ The human genome consists of all the DNA present in the cell.
✓ Humans contain in their cells two distinct genomes: the nuclear genome
(about 3200 Mbp) that resides is a cell’s nucleus and the mitochondrial
genome (16.6 kb) in the mitochondrion
✓ The nuclear genome contains almost all (99.5%) of the DNA of a cell in its
linear DNA molecules, the chromosomes, while the remainder of a cell’s
DNA is contained in the mitochondria in a cell’s cytoplasm.
✓ The DNA of the nuclear genome is linear and arranged into 23 pairs of
chromosomes, while the DNA contained in mitochondria are circular
molecules.
 RNA Genes and
Protein-coding genes
Genes
✓ Probably about 30,000 genes
✓ Most genes (90-95% probably) code for proteins.
However, there are a significant number of RNA-
only genes, and recent work has shown that RNA
genes are far more important than previously
thought.
RNA Genes
▪ Protein-coding genes are transcribed by
RNA polymerase 2 (pol2), while RNA genes
are transcribed by pol1 or pol3.
▪ The best known RNA genes are ribosomal
RNA and transfer RNA genes. Pol I synthesises rRNA and pol III makes 5S
▪ Ribosomal RNA: 3 of the 4 rRNAs are rRNA, tRNA, 7SL RNA, U6 snRNA and a few
transcribed from a single transcription unit. other small stable RNAs, many involved in
The other ribosomal RNA, 5S RNA, is RNA processing.
transcribed from large clusters elsewhere in
the genome.
▪ Transfer RNA genes are dispersed
throughout the genome, usually in small
clusters. There are 49 families of tRNA
genes
Other RNA Genes
● Catalytic RNA molecules (ribozymes) are involved with RNA splicing and RNA
base modification. The genes for these are small nuclear RNA (snRNA) and
small nucleolar RNA (snoRNA) genes.

● MicroRNAs (miRNA) and small interfering RNAs (siRNA) regulate translation of

specific mRNAs by binding to the mRNA:
○ miRNA seems to have a role in development.
○ siRNA is a basis for a popular technique called RNA interference, which
allows specific genes to be inactivated.
Protein-coding Genes
▪ Genes vary greatly in size and intron/exon organization.
▪ Some genes don’t have any introns. Most common example is
the histone genes.
▪ Some genes are quite huge: dystrophin (associated with
Duchenne muscular dystrophy) is 2.4 Mbp and takes 16 hours to
transcribe. More than 99% of this gene is intron (total of 79
introns).
However, highly expressed genes usually have short introns
▪ Most exons are short: 200 bp on average. Intron size varies
widely, from tens to millions of base pairs.
Monocistronic vs Polycistronic mRNA
Codon
• Triplet of three nucleotides in mRNA
• 64 codons (including 3 stop codons)
• Interacts with anticodon in tRNA during translation
www.biogem.org
Gene structure
Nuclear DNA Mitochondrial DNA
3200 Mbp 16.6 kb
linear circular
arranged into 23 pairs of
chromosomes
Hedge and Crowley. 2019. Genome and Gene Structure.
https://doi.org/10.1016/B978-0-12-812537-3.00004-4
 Mitochondrial DNA

Mitochondria have some of their own DNA,

ribosomes, and can make many of their own
proteins.
The DNA is circular and lies in the matrix
Mitochondria also have their own ribosomes
and tRNA
 Packaging DNA into Chromosome

Chromatin Two classes of proteins Histone Proteins

= nuclear DNA plus all the bind to DNA to form
▪ Responsible for
proteins bound to it chromosome packaging DNA into
▪histones nucleosomes
▪nonhistone ▪ 4 different types: H2A,
H2B, H3, H4
▪ Highly conserved, 102-
135 aa (147 aa)
▪ Rich in Lys and Arg
 heterochromatin
condensed
euchromatin inactive
uncoiled
active
www.medscape.com