Alp/Enigma family proteins cooperate in Z-disc formation and myofibril assembly

PLoS Genet. 2013;9(3):e1003342. doi: 10.1371/journal.pgen.1003342. Epub 2013 Mar 7.

Abstract

The Drosophila Alp/Enigma family protein Zasp52 localizes to myotendinous junctions and Z-discs. It is required for terminal muscle differentiation and muscle attachment. Its vertebrate ortholog ZASP/Cypher also localizes to Z-discs, interacts with α-actinin through its PDZ domain, and is involved in Z-disc maintenance. Human mutations in ZASP cause myopathies and cardiomyopathies. Here we show that Drosophila Zasp52 is one of the earliest markers of Z-disc assembly, and we use a Zasp52-GFP fusion to document myofibril assembly by live imaging. We demonstrate that Zasp52 is required for adult Z-disc stability and pupal myofibril assembly. In addition, we show that two closely related proteins, Zasp66 and the newly identified Zasp67, are also required for adult Z-disc stability and are participating with Zasp52 in Z-disc assembly resulting in more severe, synergistic myofibril defects in double mutants. Zasp52 and Zasp66 directly bind to α-actinin, and they can also form a ternary complex. Our results indicate that Alp/Enigma family members cooperate in Z-disc assembly and myofibril formation; and we propose, based on sequence analysis, a novel class of PDZ domain likely involved in α-actinin binding.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics
  • Actinin / metabolism
  • Animals
  • Carrier Proteins
  • Cell Differentiation
  • Drosophila Proteins / genetics*
  • Drosophila Proteins / metabolism
  • Drosophila Proteins / physiology
  • Drosophila melanogaster* / genetics
  • Drosophila melanogaster* / growth & development
  • LIM Domain Proteins* / genetics
  • LIM Domain Proteins* / metabolism
  • LIM Domain Proteins* / physiology
  • Muscle Proteins / genetics*
  • Muscles* / cytology
  • Muscles* / metabolism
  • Muscles* / physiology
  • Myofibrils* / genetics
  • Myofibrils* / metabolism
  • Myofibrils* / physiology
  • PDZ Domains / genetics
  • Protein Binding
  • Sarcomeres / genetics
  • Sarcomeres / metabolism
  • Sarcomeres / physiology

Substances

  • Carrier Proteins
  • Drosophila Proteins
  • LIM Domain Proteins
  • Muscle Proteins
  • Zasp52 protein, Drosophila
  • Zasp67 protein, Drosophila
  • Actinin