Changes in predicted protein disorder tendency may contribute to disease risk

Yang Hu, Yunlong Liu, Jeesun Jung, A. Dunker, Yadong Wang

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Background: Recent studies suggest that many proteins or regions of proteins lack 3D structure. Defined as intrinsically disordered proteins, these proteins/peptides are functionally important. Recent advances in next generation sequencing technologies enable genome-wide identification of novel nucleotide variations in a specific population or cohort.Results: Using the exonic single nucleotide variations (SNVs) identified in the 1,000 Genomes Project and distributed by the Genetic Analysis Workshop 17, we systematically analysed the genetic and predicted disorder potential features of the non-synonymous variations. The result of experiments suggests that a significant change in the tendency of a protein region to be structured or disordered caused by SNVs may lead to malfunction of such a protein and contribute to disease risk.Conclusions: After validation with functional SNVs on the traits distributed by GAW17, we conclude that it is valuable to consider structure/disorder tendencies while prioritizing and predicting mechanistic effects arising from novel genetic variations.

Original languageEnglish
Article numberS2
JournalBMC Genomics
Volume12
Issue numberSUPPL. 5
DOIs
StatePublished - Dec 23 2011

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Nucleotides
Proteins
Intrinsically Disordered Proteins
Genome
Inborn Genetic Diseases
Technology
Education
Peptides
Population

ASJC Scopus subject areas

  • Biotechnology
  • Genetics

Cite this

Changes in predicted protein disorder tendency may contribute to disease risk. / Hu, Yang; Liu, Yunlong; Jung, Jeesun; Dunker, A.; Wang, Yadong.

In: BMC Genomics, Vol. 12, No. SUPPL. 5, S2, 23.12.2011.

Research output: Contribution to journalArticle

Hu, Yang ; Liu, Yunlong ; Jung, Jeesun ; Dunker, A. ; Wang, Yadong. / Changes in predicted protein disorder tendency may contribute to disease risk. In: BMC Genomics. 2011 ; Vol. 12, No. SUPPL. 5.
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