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What type of mutation that impacts splicing is a significant contributor to human disease?
Solution
Disruptions in splicing are major contibutor of human diseases.Most genes in higher eukaryotes
are composed of introns (non coding segments) and exons (coding segments). The majority of
human intron removals ae catalyzed by a large and dynamic ribonucleoprotein (RNP) complex
called the spliceosome.This process involves two sequential transesterification reactions which
ligate the exons and release the intron as a lariat.
Alternate splicing which allows for the productioin of many proteins from a single genomic
locous.This greatly augments the repertorie of the protein.This greatly augments the repertoire of
proteins that can be produced by a given gene and plays an important role in
evolution,development and disease.

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What type of mutation that impacts splicing is a significant contrib.pdf

  • 1. What type of mutation that impacts splicing is a significant contributor to human disease? Solution Disruptions in splicing are major contibutor of human diseases.Most genes in higher eukaryotes are composed of introns (non coding segments) and exons (coding segments). The majority of human intron removals ae catalyzed by a large and dynamic ribonucleoprotein (RNP) complex called the spliceosome.This process involves two sequential transesterification reactions which ligate the exons and release the intron as a lariat. Alternate splicing which allows for the productioin of many proteins from a single genomic locous.This greatly augments the repertorie of the protein.This greatly augments the repertoire of proteins that can be produced by a given gene and plays an important role in evolution,development and disease.