The LCCL module.
TL;DR: It is shown that the mutations which cause hearing loss in humans affect residues that are critical for the integrity of the LCCL module of the coch-5b2 protein.
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Abstract: Here we show that Lgl1 protein, cub-1-related proteins, coch-5b2-related proteins, coagulation factor C of horse-shoe crab and a predicted protein of Plasmodium falciparum share a homologous domain. Since this domain-type was first identified in Limulus factor C, Coch-5b2 and Lgl1 we propose the name LCCL for this domain-family. The LCCL module of coch-5b2 is of special biological interest because it has been shown recently that mutations affecting this module cause the deafness disorder DFNA9 in humans. With a view to defining the structure and function of the LCCL domain of human coch-5b2 protein, we have expressed it in Escherichia coli and subjected it to preliminary structural characterization. Structure prediction and circular dichroism studies on the recombinant protein indicate that the domain possesses both alpha helices and beta strands. It is shown that the mutations which cause hearing loss in humans affect residues that are critical for the integrity of the LCCL module of the coch-5b2 protein.
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The CAP Superfamily: Cysteine-Rich Secretory Proteins, Antigen 5, and Pathogenesis-Related 1 Proteins—Roles in Reproduction, Cancer, and Immune Defense
TL;DR: Overall protein structural conservation within the CAP superfamily results in fundamentally similar functions for the CAP domain in all members, yet the diversity outside of this core region dramatically alters target specificity and, therefore, the biological consequences.
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A Multidomain Adhesion Protein Family Expressed in Plasmodium falciparum Is Essential for Transmission to the Mosquito
Gabriele Pradel,Karen Hayton,L. Aravind,Lakshminarayan M. Iyer,Mitchell S. Abrahamsen,Annemarie Bonawitz,Cesar Mejia,Thomas J. Templeton +7 more
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The role of the posterior ciliary body in the biosynthesis of vitreous humour
TL;DR: New data suggest that the posterior half of the non-pigmented ciliary epithelium has substantial secretory activity and is likely to play a pivotal role in eye development.
CRISPLD2: a novel NSCLP candidate gene
Brett T. Chiquet,Brett T. Chiquet,Andrew C. Lidral,Samuel Stal,John B. Mulliken,Lina M. Moreno,Mauricio Arco-Burgos,Consuelo Valencia-Ramirez,Susan H. Blanton,Jacqueline T. Hecht +9 more
TL;DR: In situ hybridization showed that CRISPLD2 is expressed in the mandible, palate and nasopharynx regions during craniofacial development at E13.5-E17.5, respectively, and linkage disequilibrium analysis identified a significant association between CRIS PLD2 and NSCLP in both Caucasian and HispanicNSCLP cohorts, suggesting that genetic variation in CRISplD2 has a role in the etiology of NSCLp.
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
TL;DR: The results suggest that DFNA9 mutations may manifest deleterious effects beyond the point of secretion, in the unique environment of the extracellular matrix of the inner ear by disrupting cochlin function or interfering with protein-protein interactions involving the FCH/LCCL domain.
89
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