The structure of a human coding gene has many sequence elements;
A regulatory sequence for the gene expression.
The promoter of the gene is a base-pair sequence to specify where the transcription begins. The promoter elements (transcription factors) activate the promoter site by binding RNA polymerase enzyme to start gene expression.
There can be more than one promoter which results in the different mRNA extension to the 5′ end. Some genes have powerful promoter sites with a strong connection with transcription factors. So they are transcribed frequently. While some genes are less frequently transcribed as they have a weak connection with transcription factors.
In humans, there is great variability in gene expression among different tissues or conditions.
The Coding sequence is the base pair sequence that contains coding information for the polypeptide chain (specified by the gene). Their transcript has two subdivisions intron region and exon region. The final mRNA is retained with exons while introns are spliced out.
Genes can have regulatory genes that can alter gene expression. For instance, enhancers bind an activator protein which enables easy recruitment of RNA polymerase enzyme; conversely, repressor genes or silencers bind repressor proteins which reduces the availability of DNA to RNA polymerase enzyme.
A Terminator is a sequence that marks the end of the transcription and releases the RNA polymerase enzyme.
The process of transcription:
It is a process in which the DNA sequence of the gene is copied to make an RNA molecule. The main transcription enzyme is an RNA polymerase.
The human protein-coding gene has a coding sequence with introns along with exons.
Thus, the Eukaryotic protein-coding gene has a sequence that is not collinear to the mRNA which is translated; extra introns are removed by RNA splicing before the translation.
That means the transcript of the gene is the precursor mRNA (pre mRNA) that exists in the nucleus and is then processed into translatable mRNA.
Content of coding genes in the human genome:
There are about 20,000 to 25,000 protein-coding genes in humans which approximately makes 1% to 2 % of whole human genes.
Irrespective of their smaller content, they are very crucial in the human life cycle since they make every single protein in humans.
Even though the fraction of coding genes is very less (which is comparable to the fraction of coding genes in Drosophila melanogaster), differential mRNA splicing is the substantial method that allows for making a very large number of protein molecules. To put it more simply, a single gene is known to code for multiple proteins.
Alternative mRNA splicing or differential splicing:
During gene expression, the exons are regulated in different ways which enable the single gene to code for many proteins.
In this process, specific exons can be eliminated or included from the messenger RNA produced.
The exon skipping is the commonest alternative splitting method, where a distinct exon is not included in the final mRNA in some tissues and is included in others.
The consequence is that these differential mRNA will lead to the production of different amino acid sequences and hence a different protein production.
In humans, more than 90% of the coding genes are spliced alternatively.
Conversely, abnormal differential splicing can result in various genetic abnormalities. Also, differential splicing of mutated genes causes different types of cancer. For instance, mutation of DNMT3A can cause hematological malignancies (with varied pattern in alternative splicing).
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