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. 2022 Jun;12(6):e829.
doi: 10.1002/ctm2.829.

Defective α-tectorin may involve tectorial membrane in familial Meniere disease

Pablo Roman-Naranjo  1   2   3   4 , Alberto M Parra-Perez  1   3   4 , Alba Escalera-Balsera  1   2   3 , Andres Soto-Varela  5   6 , Alvaro Gallego-Martinez  1   2   3 , Ismael Aran  7 , Nicolas Perez-Fernandez  8 , David Bächinger  9 , Andreas H Eckhard  9 , Rocio Gonzalez-Aguado  10 , Lidia Frejo  1   2   3 , Jose A Lopez-Escamez  1   2   3   4
Affiliations

Defective α-tectorin may involve tectorial membrane in familial Meniere disease

Pablo Roman-Naranjo et al. Clin Transl Med. 2022 Jun.
No abstract available

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Pedigrees of the six families carrying rare variants and short deletions in the TECTA gene
FIGURE 2
FIGURE 2
Variants distribution across the α‐tectorin domains. The α‐tectorin protein has several domains: the NIDO domain, the von Willebrand factor type C (VWFC: colored in green) and type D (VWFD) domains, the trypsin Inhibitor‐like cysteine‐rich (TIL) domain, and the zona‐pellucida (ZP) domains. Three rare missense variants (colored in blue) and two short deletions (colored in red) were found in four multicase MD families (arrow shaped) and two additional families with one MD patient and relatives with partial syndromes (diamond shaped). The position of stop codons generated by frameshift short deletions is indicated in red
FIGURE 3
FIGURE 3
Predicted effect of variants on the α‐tectorin structure. (A) Mature α‐tectorin model showing the different domains that form the protein and the positions of the missense variants found in this study (indicated with black arrows). (B) TIL‐3 domain of WT α‐tectorin (left) and C1402S mutant (right). A disulfide bridge between C1359 and C1402 is predicted in the WT protein (indicated with an arrow). This disulfide bridge disappears in the mutated protein, where appears a weak polar interaction between C1359 and S1402. (C) VWF D‐4 domain of WT α‐tectorin (left) and V1494A mutant (right). (D) Inter‐domain upstream the ZP domain of α‐tectorin WT (left) and P1790S mutant (right). Yellow dashed lines represent polar interactions between residues within 4 Å from the mutated residue. Arrows show new or missing bonds. VWF D, Von Willebrand factor type D; ZP, zona pellucida
See this image and copyright information in PMC

References

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    1. Escalera‐Balsera A, Roman‐Naranjo P, Lopez‐Escamez JA. Systematic review of sequencing studies and gene expression profiling in familial meniere disease. Genes. 2020;11(12):E1414. - PMC - PubMed
    1. Roman‐Naranjo P, Gallego‐Martinez A, Soto‐Varela A, et al. Burden of rare variants in the OTOG gene in familial Meniere's disease. Ear Hear. 2020;41(6):1598‐1605. - PubMed
    1. Roman‐Naranjo P, Moleon MDC, Aran I, et al. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hear Res. 2021;409:108329. - PubMed
    1. Legan PK, Rau A, Keen JN, Richardson GP. The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm‐egg adhesion system. J Biol Chem. 1997;272(13):8791‐8801. - PubMed

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