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Related Experiment Videos

The LCCL module.

M Trexler1, L Bányai, L Patthy

  • 1Institute of Enzymology, Biological Research Center, Hungarian Academy of Sciences, Budapest, Hungary.

European Journal of Biochemistry
|September 6, 2000
PubMed
Summary

Researchers identified a homologous domain, named LCCL, shared by proteins including human coch-5b2. Mutations in this LCCL domain of coch-5b2 cause human deafness (DFNA9), highlighting its critical role in hearing.

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

The EMBO journal·2001

Area of Science:

  • Molecular Biology
  • Genetics
  • Structural Biology

Background:

  • A homologous domain is identified across diverse proteins, including Lgl1, cub-1, coch-5b2, horseshoe crab coagulation factor C, and a Plasmodium falciparum protein.
  • This domain, first identified in Limulus factor C, Coch-5b2, and Lgl1, is proposed to be named the LCCL (Limulus factor C, Coch-5b2, Lgl1) domain.
  • The LCCL module of coch-5b2 is biologically significant due to its association with the human deafness disorder DFNA9.

Purpose of the Study:

  • To elucidate the structure and function of the LCCL domain within the human coch-5b2 protein.
  • To characterize the structural properties of the LCCL domain through expression and preliminary structural analysis.

Main Methods:

  • Expression of the human coch-5b2 LCCL domain in Escherichia coli.
  • Preliminary structural characterization using techniques such as structure prediction and circular dichroism (CD) spectroscopy.
  • Analysis of mutation sites associated with human hearing loss.

Main Results:

  • The recombinant LCCL domain of human coch-5b2 exhibits a secondary structure composed of both alpha helices and beta strands.
  • Structure prediction and CD studies confirm the presence of alpha helices and beta strands within the LCCL domain.
  • Mutations causing human hearing loss were found to affect residues crucial for the structural integrity of the coch-5b2 LCCL module.

Conclusions:

  • The LCCL domain of human coch-5b2 possesses a defined secondary structure.
  • Residues critical for the LCCL domain's integrity are implicated in the pathogenesis of DFNA9 deafness.
  • This study provides foundational structural insights into the LCCL domain, relevant to understanding hearing loss mechanisms.

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