Origin, Evolution, and Functional Impact of Short Insertion- Deletion Variants in Human Genomes: A Review

Authors: Sharada Devi JN* , Samuel S , Latha K , Priya MD , Mahalakshmi BR and Kiran Kumar HB

DOI: 10.23880/aabsc-16000237

Volume 9, Issue 1

Abstract

Repetitive DNA is now recognised as crucial components of the genome landscape of several eukaryotes. The Short insertions and indels class of repetitive DNA account for approximately 12% of all variations in the human genome. Their unique genome organisation and architecture confer the DNA several unique characteristics which are avenues for DNA biophysical and gene regulation studies. Further, given their frequent occurrence in the genome they are used in several genome mapping efforts. The present review is an update on the indel variation in the human genome covering diverse section on their architecture, effects on genes and proteins and human diseases. Given their high density their roles in changes to meiotic biology and genome evolution assumes importance. With the availability of genome sequences of several mammals and model organisms along with parallel improvements in genotyping and bioinformatics tools indel are now applied to diverse fields of biology. The areas include wildlife biology, pathogen evolution, adaptation and disease prognosis. Indel-associated mutation occurs enhance the rates of point mutations through IDAM with implications for recombination and meiotic biology. The evolution of the olfactory-related and G-protein coupled receptor signalling genes are an important indicator to the role of indels in human genome. Indels enable virus adaptability and are source of evolutionary innovation. Several plant and animal trait mapping research frequently employ indels. In the area of medical genetics, they are used as prognostic markers. Several lineage tracing studies in mammals and ancient human studies have consistently used indels as marker due to their significant advantages. Parallel improvements in methods of genotyping and bioinformatics have facilitated indel genome research. Hence, this review is an update on this class of variation serving to diverse fields of biologists.

Keywords: Insertion Deletion Mutations (Indels); Slippage Mutagenesis; Nonhomologous End Joining (NHEJ); Non- Crossover (NCO) Repair; Zinc-Finger Nucleases (ZFNs)

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