A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure

Eur J Hum Genet. 2015 Jun;23(6):874-6. doi: 10.1038/ejhg.2014.201. Epub 2014 Oct 1.

Abstract

Myosin light-chain kinase (MYLK) is a gene known to be significantly associated with severe asthma in African Americans. Here we further examine the molecular function of a single-nucleotide polymorphism (SNP), located in the non-muscle myosin light-chain kinase isoform (nmMLCK), in asthma susceptibility and pathobiology. We identified nmMLCK variant (reference SNP: rs9840993, NM_053025: 721C>T, c.439C>T) with a distinct mRNA secondary structure from the other variants. The nmMLCK variant (721C) secondary structure exhibits increased stability with an elongated half-life in the human endothelial cell, and greater efficiency in protein translation initiation owing to an increased accessibility to translation start site. Finally, nmMLCK expression of 721C- and 721T-containing MYLK transgenes were compared in nmMLCK(-/-) mice and confirmed deleterious effects of nmMLCK expression on asthmatic indices and implicated the augmented influence of MYLK 721C>T (c.439C>T) SNP on asthma severity. The confirmation of the novel mechanism of the regulation of asthmatic inflammation by a MYLK advances knowledge of the genetic basis for asthma disparities, and further suggests the potential of nmMLCK as a therapeutic target. Our study suggests that in addition to altering protein structure and function, non-synonymous SNPs may also lead to phenotypic disparity by altering protein expression.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Asthma / genetics*
  • Asthma / pathology
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / metabolism
  • Cell Line
  • Humans
  • Inflammation / genetics
  • Mice
  • Myosin-Light-Chain Kinase / genetics*
  • Myosin-Light-Chain Kinase / metabolism
  • Nucleic Acid Conformation*
  • Peptide Chain Initiation, Translational
  • Polymorphism, Single Nucleotide*
  • RNA Stability
  • RNA, Messenger / chemistry*
  • RNA, Messenger / genetics

Substances

  • Calcium-Binding Proteins
  • RNA, Messenger
  • MYLK protein, human
  • Myosin-Light-Chain Kinase