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Genome Organization - 2020

The human genome consists of DNA contained in the cell's nucleus and mitochondria. The nuclear genome contains 23 pairs of chromosomes totaling around 3200 million base pairs that carry most of the cell's genes. The mitochondrial genome is much smaller at 16.6 kilobases and resides in the mitochondria. Genes code for either RNA or proteins, with most genes coding for proteins. RNA genes help produce ribosomal RNA, transfer RNA and other types of regulatory RNA. The DNA is tightly packaged into chromatin and further condensed into chromosomes using histone and nonhistone proteins.
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100% found this document useful (1 vote)
191 views26 pages

Genome Organization - 2020

The human genome consists of DNA contained in the cell's nucleus and mitochondria. The nuclear genome contains 23 pairs of chromosomes totaling around 3200 million base pairs that carry most of the cell's genes. The mitochondrial genome is much smaller at 16.6 kilobases and resides in the mitochondria. Genes code for either RNA or proteins, with most genes coding for proteins. RNA genes help produce ribosomal RNA, transfer RNA and other types of regulatory RNA. The DNA is tightly packaged into chromatin and further condensed into chromosomes using histone and nonhistone proteins.
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Genome

Organization and
Gene Structure
Ni Nyoman Ayu Dewi
Department of Biochemistry
Faculty of Medicine Udayana University
TERMS…

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

CHROM CHROMOS
complex of DNA,
ATINhistone OME unit of genetic
structural
and nonhistone proteins material consisting of a
from which eukaryotic single, linear double-stranded
chromosomes are formed DNA molecule 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.
 Ribosomal RNA: 3 of the 4 rRNAs are
transcribed from a single transcription
unit. The other ribosomal RNA, 5S RNA,
is transcribed from large clusters
elsewhere in the genome.
 Transfer RNA genes are dispersed
throughout the genome, usually in small Pol I synthesises rRNA and pol III makes
clusters. There are 49 families of tRNA 5S rRNA, tRNA, 7SL RNA, U6 snRNA
genes and a few other small stable RNAs, many
involved in RNA processing.
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.
Gene structure

Nuclear DNA
3200 Mbp
linear
arranged into 23 pairs of
chromosomes

Mitochondrial DNA
16.6 kb
circular
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
= nuclear DNA plus all Two classes of proteins
the proteins bound
to it
bind to DNA to form
chromosome Histone Proteins
 histones  Responsible for
 nonhistone packaging DNA into
nucleosomes
 4 different types: H2A,
H2B, H3, H4
 Highly conserved, 102-
135 aa (147 aa)
 Rich in Lys and Arg
http://www.slideshare.net/buhroozafar/biotech-lecture-ppt
heterochromatin
condensed
euchromatin inactive
uncoiled
active
www.medscape.com
Challenges of Packaging DNA

● How to get 2 meters of DNA into nucleus of 6 µm


● Packaging accomplished with help of proteins
● Must be compacted in manner that still allows for
it to be accessed by enzymes that govern
replication, transcription, and repair
Eukaryotic DNA is packaged into a set
of chromosomes
● DNA divided into set of chromosomes
● Chromosome= single DNA molecule and
proteins associated with it
● Each human cell contains 46
chromosomes
22 homologous chromosomes
2 sex chromosomes
THANK
YOU Do you have any questions?
ayu.dewi@unud.ac.id
081337141506

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