Importance of Introns in the Human Genome

The quantity of introns in the genome varies for different eukaryotic organisms. The length of the introns is also observed to differ in various organisms. There are various roles of introns in human genomes. The roles include the function of introns in the assembly of chromatin, control of the nonsense-mediated decay, positive regulation of the gene expression, and the mediation of alternative splicing.

Function of Introns in The Transport Of mRNA Assembly of Chromatin: The spliced RNA strands are easily conveyed out of the nucleus than the unspliced transcripts and thus the introns have a significant role in the transport of transcripts in the cell. The transcription export complex manages the transport of the RNA strands with introns in the 5′UTR and the export takes place from the nucleus to the cytoplasm. The transport of the spliced transcripts is manipulated by the signal sequences positioned in the open reading frames. The observation of the continuous depletion of the nucleosomes in the intron-rich region signifies their role in the organization of chromatin. The introns force the movement of nucleosomes to the region of exons.

Nonsense -mediated Decay: The mRNAs with defectively formed premature termination codons are cleaved out through the surveillance mechanism called the nonsense-mediated decay. The presence of introns in the 5′ or 3′ untranslated regions favor in the signaling the nonsense-mediated decay. The premature mRNA codons are detected by the nonsense-mediated decay mechanism with the aid of the introns and this favor in preventing the expression of undesirable proteins during the translation process through the regulation of the NMD-sensitivity of RNA strands.

Positive Regulation of Gene Expression: The transcripts with a large number of introns were observed to express a lot more proteins than the transcripts with fewer introns and thus the introns have a significant role in promoting the expression of the genes. The presence of the enhancer and silencer sequences in the introns manages the function of transcription through managing the function of the gene promoters. The genes with intron-mediated enhancers were identified to be more efficient than the sequences lacking the intron-mediated enhancers.

Management of Alternative Splicing: The diversity of the proteins is enhanced by the process of alternative splicing taking place in the introns. The different types of proteins formed from a gene increase with the number of introns present in the RNA. The introns are identified to carry cis-acting motifs for favoring the attachment of the splicing factors.

Types of Introns in the Human Genome
The introns are grouped as the tRNA introns and the spliceosomal introns.

Spliceosomal introns:

The nuclear pre-mRNA introns are called the spliceosomal introns and are characterized by the positioning of the certain intron sequences in the boundaries of the exons and the introns. The initiation of the spliceosomal reactions will favor the identification of these specific intron sequences in the pre-matured RNA transcript. A branch point in the introns is generated by the formation of a covalent linkage between the 3′ and 5′ end of the introns during the process of splicing, the variability of the nuclear pre-mRNA sequences is identified to be high and these introns are longer than the adjacent exons.

tRNA Introns:

The anticodon of the transfer RNA is identified to possess certain intron sequences, which are cleaved by the action of specific proteins. The tRNA splicing endonuclease is the enzyme associated with the removal of these introns. The exons of further adjoined together by the action of the enzyme tRNA splicing ligase.

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