ORIGIN OF NEW GENES AND PROTEINS
PRESENTED BY: SAHYADRI B DOTIHAL
M.SC 3RD SEMESTER
KSAWU VIJAYAPUR
REG NO: P10UA23S221019
INTRODUCTION
The formation of new genes is a primary driving force of evolution in all organisms.
It is evident that approx. 30,000 different functional genes in mammalian genomes must have
evolved from a much lower number in the earliest ancestors of living organisms.
Presumably, all genes in human genome ultimately descend from a single gene or set of genes that
provide the first programs for life on earth. Moreover, the number of functional genes differs among
major groups of organisms.
Recent research has focused on identifying the mechanisms that generate new genes, and scientists
have found that these mechanisms involve a variety of molecular events, all of which must occur in
the germ line to be inherited by the next generation.
Subsequently, the two most likely outcomes for the new gene are fixation (i.e., the new gene will
reach a frequency of 100%) or extinction (i.e., the new gene will be lost).
Evolutionary biologists have described several mechanisms by which the genes have been
originated in a genome of a species, either from pre-existing genes in the same genome or in the
genome of a different species.
MECHANISM OF ORIGIN OF NEW GENES AND PROTEINS
There are several mechanisms by which new genes are generated. These includes:
1. Gene duplication
2. Exon shuffling
3. Mobile elements or transposable elements
4. Lateral gene transfer
5. Gene fusion/gene fission
6. de novo origination.
01.GENE DUPLICTION
Gene duplication was the first mechanism of gene generation and this process is most common way of
creating new genes.
Duplications are typically classified according to the size of the portion of the genome that is
duplicated; thus, a duplication may be described as involving an entire genome, large segments of a
genome, individual genes, individual exons, or even specific parts of exons.
The mechanisms that generate duplicate genes are diverse.
These mechanisms includes
a) whole-genome duplications originating through nondisjunction
b) retrotranspositions originating through the retrotranscription of an RNA intermediate
c) transpositions involving transposable elements
d) tandem duplications originating through unequal crossover
e) duplications occurring after rearrangements and subsequent repair of staggered breaks.
02. EXON SHUFFLING
Two or more exons from different genes can be brought together ectopically, or the same exon can be
duplicated, to create a new exon–intron structure.
Since exons are flanked by long introns then misalignment of introns can introduce exon dulpications.
The exons of genes can generates an individual useful units that can be mixed and matched through
exon shuffling to generate new, useful combinations. Duplication of exons leads to additional domains
in the protein.
The 30,000 human genes are proposed to have arisen by duplication and shuffling of just a few
thousand distinct exons. Domain complexity increases with organismal complexity
.Example of formation of new gene by exon shuffling:
Formation of combinations of domains as a result of exon/domain shuffling. Blood
coagulation factors family members contain similar domains in various combinations and
numbers.
03.TRANSPOSABLE ELEMENTS
Transposable elements (TEs) are so-called "selfish"
segments of DNA that can move themselves within a
genome.
There are two types of TEs: DNA transposons and
retrotransposons.
DNA transposons are able to excise themselves out of
the genome and be inserted somewhere else, whereas
retrotransposons copy themselves through an RNA
intermediate.
Transposons are mobile DNA elements akin to
plasmids in bacteria. They are present in large
numbers (500,000 Alu-like transposons in human
genome) They are constantly moving around the
genome.
TE insertions cause mutations and contribute to
increased genome size, but they usually do not
encode cellular proteins.
04. LATERAL GENE TRANSFER (LGT)
Lateral gene transfer is the gene transferred between different organisms. Often in Prokaryotes, rare
in eukaryotes.
The term "lateral gene transfer" to refer to the case in which a gene does not have a vertical origin
(i.e., direct inheritance from parent to offspring) but instead comes from an unrelated genome. The
Gene transfer across species is termed as LGT. It is also referred as Horizontal gene transfer.
It is well known that this sort of transfer occurs between bacteria, and that it also has taken place
between the genomes of the cellular organelles (mitochondria and chloroplasts) and the nuclear
genomes.
Examples: acytylneuraminate lysase, Escherichia coli, mutU and mutS
05. GENE FUSION AND FISSION
In this mechanism, the existing gene can fuse (i.e., two or more genes can become part of the same
transcript) or may undergo fission (i.e., a single transcript can break into two or more separate
transcripts), which results in the formation of a new gene (Long et al., 2003). The gene fusion or fission
occurs due to the mutations on stop codon or initial codon of the gene.
Many cases of gene fusion and fission have been identified in prokaryotic genomes as well as in higher
eukaryotes. An example of fusion gene in human is, KUA-UEV, in which the ubiquitin E2 variant domain
of tumour susceptibility gene (UEV1) and a newly identified gene known as KUA were fused (Thomson
et al., 2000). Other example is Fatty-acid synthesis enzymes.
Interestingly, it has been observed that chimeric fusion genes sometimes involve two copies of the
same gene (e.g., the alcohol dehydrogenase gene in Drosophila), and when that happens, the resulting
genes undergo parallel evolution, in which they shift away from the functions of their parental genes.
06.DE NOVO ORIGINATION
A new gene can form by the de novo origination
process from the noncoding region of DNA
molecule, which is neither transcribed, nor
translated. In other words, de novo genes refer
to events, where a coding region originates
from a previously non-coding region.
Several novel genes derived from noncoding
DNA have recently been described in
Drosophila. For these recently originated
Drosophila genes with likely protein-coding
abilities, there are no homologues in any other
species.
These new genes sometimes originate in the X
chromosome, and they often have male germ-
line functions.
Examples: AFGPs, BC1RNA, BC200RNA
FATE OF NEWLY FORMED GENES
All these new sequences add to the complexity and diversity of genomes. As with any mutation,
when new genes become fixed in a genome, they add to the differences between species and serve
as the raw material for evolution.
This is easy to see in the case of gene duplication. Gene duplication results in two or more copies of
a gene: one that can maintain its original function in the organism, and other(s) that can be "played
with" to take on new functions.
As a consequence, new duplicates are a main source of genome innovation and often evolve under
positive selection, in which rapid changes in the protein encoded by the new gene occur to gain a
new function. This process is referred to as neofunctionalization of the new gene.
Example of Neofunctionalisation: -GLUD2 in primates has a new role in neurotransmitter flux. -
Thrombin (cleaves fibrinogen during clotting) and trypsin (digestive enzyme) are derived from a
complete gene duplication. -Lactate dehydrogenase can be converted into malate dehydrogenase
with a single amino acid replacement (out of total protein length of 317 amino acids)
OTHER POSSIBLE FATE OF NEWLY FORMED GENES
ARE:
Functional compensation: Many duplicated genes shelter the organism from deleterious mutations in the
other copy (shown in yeast and worm).
gene loss or pseudogenization:
maintenance of both genes as a way to increase expression (Dosage increase) or to maintain multiple
variants within individuals.
the occurrence
Example: Esterase Bof
in subfunctionalization:
mosquito increased gene dosage confers greater pesticide resistance.
Subfunctionalization is a neutral mutation
process in which each paralog retains a subset of
its original ancestral function. The figure
illustrates that the ancestral gene (orange &
blue) is capable of both functions before gene
duplication. After gene duplication the functional
capabilities are divided amongst the gene
copies. After this divergence each paralog is
capable of independently performing a distinct
ancestral function.
REFERENCES :
Evolution by Douglas Futuyma
State University of New York at Stony Brook
Origin of new genes
By Dr. Gajendra Kumar Azad, Assistant Professor
PG Dept. of Zoololy
Patna University, Patna
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