Journal of Clinical & Medical Genomics

Tiratha Raj Singh

Publications

• Review Article
  Mitochondrial Genomes and Frameshift Mutations: Hidden Stop Codons, their Functional Consequences and Disease Associations
  Author(s): Tiratha Raj SinghTiratha Raj Singh
  
  Reprogramming of mRNA translation by localized alterations in the standard translational rules is termed as recoding. Frameshifting is one class of recoding and defined as protein translations that start not at the first, but either at the second (+1 frameshift) or the third (-1 frameshift) nucleotide of the codon. Apparently, most frameshifts would yield nonfunctional proteins. Therefore frameshifts lead to waste of energy, resources and activity of the biosynthetic machinery. In addition, some peptides synthesized after frameshifts are most likely cytotoxic. Coding sequences lack stop codons, but many stop codons generated due to frameshifted sequences, termed off-frame stops or hidden stop codons. These hidden stops terminate frame-shifted translation, potentially decreasing energy, and resource waste on nonfunctional proteins. Frameshift mutations for the sake of mitochondrial gen.. Read More»
  DOI: 10.4172/2332-0672.1000108

  Abstract PDF