Apr 1, 2020

On the Relation of Gene Essentiality to Intron Structure: A Computational and Deep Learning Approach

BioRxiv : the Preprint Server for Biology
Justin HavirdElan Schonfeld


Identification and study of human-essential genes has become of practical importance with the realization that disruption or loss of nearby essential genes can introduce latent-vulnerabilities to cancer cells. Essential genes have been studied by copy-number-variants and deletion events, which are associated with introns. The premise of our work is that introns of essential genes have characteristic properties that are distinct from the introns of nonessential genes. In this paper, we identified several novel properties of introns of essential genes, finding that their structure protects against deletion and intron-loss events, and that these traits are especially dominant in the first intron. We showed that GC density is increased in the first introns of essential genes, allowing for increased enhancer activity, protection against deletions, and improved splice-site recognition. Furthermore, we found that first introns of essential genes are of remarkably smaller size than their nonessential counterparts, and to protect against common 3' end deletion events, essential genes carry an increased number of (smaller) introns. We provided support for our observations by training a deep learning model on introns of essential and none...Continue Reading

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Mentioned in this Paper

DNA, Mitochondrial
Recombination, Genetic
Sexual Reproduction
Erosion Lesion
Superficial Ulcer
Screening Generic
Mitochondrial DNA Location

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