NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

EMBO J. 2001 Oct 1;20(19):5347-53. doi: 10.1093/emboj/20.19.5347.

Abstract

The LCCL domain is a recently discovered, conserved protein module named after its presence in Limulus factor C, cochlear protein Coch-5b2 and late gestation lung protein Lgl1. The LCCL domain plays a key role in the autosomal dominant human deafness disorder DFNA9. Here we report the nuclear magnetic resonance (NMR) structure of the LCCL domain from human Coch-5b2, where dominant mutations leading to DFNA9 deafness disorder have been identified. The fold is novel. Four of the five known DFNA9 mutations are shown to involve at least partially solvent-exposed residues. Except for the Trp91Arg mutant, expression of these four LCCL mutants resulted in misfolded proteins. These results suggest that Trp91 participates in the interaction with a binding partner. The unexpected sensitivity of the fold with respect to mutations of solvent-accessible residues might be attributed to interference with the folding pathway of this disulfide-containing domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Conserved Sequence
  • Deafness / genetics*
  • Extracellular Matrix Proteins
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Models, Molecular
  • Molecular Sequence Data
  • Nuclear Magnetic Resonance, Biomolecular
  • Protein Folding
  • Protein Structure, Tertiary
  • Proteins / chemistry*
  • Proteins / genetics*
  • Sequence Homology, Amino Acid

Substances

  • COCH protein, human
  • Extracellular Matrix Proteins
  • Proteins

Associated data

  • PDB/1JB1