Disease relevance of TECTA

• However, the three families carrying different TECTA mutations also show phenotypic differences: the hearing loss ranges from prelingual to progressive with late onset [1].
• The present study reports linkage to DFNA12 in a new family with autosomal dominant high frequency hearing loss progressing from mild to moderate severity [2].

Psychiatry related information on TECTA

• In this study, five selected members of a Dutch DFNA8/12 family with a TECTA sensorineural hearing impairment were evaluated with pure-tone audiometry, loudness scaling, speech perception in quiet and noise, difference limen for frequency, acoustic reflexes, otoacoustic emissions, and gap detection [3].

High impact information on TECTA

• The kinase inhibitors sphingosine, H-7, and phorbol ester, which down-regulates protein kinase C with chronic exposure, were applied to the tecta in a slow release plastic, Elvax [4].
• In the majority of cases, autosomal dominant nonsyndromic hearing loss is postlingual and progressive, with the exception of hearing impairment in families in which the impairment is linked to DFNA3, DFNA8/12, and DFNA24, the novel locus described in this report [5].
• Our results for markers on chromosome 11 narrowed down the candidate region for the DFNA12 locus [6].
• We found significant LOD scores (>3) for markers at candidate locus DFNA12 (11q22-q24) and suggestive LOD scores (>2) for markers at locus DFNA2 (1p32) [6].
• The critical regions for the recessive deafness locus DFNB2 and the dominant locus DFNA11, which were previously localized to the long arm of chromosome 11, do not overlap with the candidate interval of DFNA12 [7].

Biological context of TECTA

• The explanation for the different phenotypes and some clues regarding the functions of TECTA may lie in the localization of the mutations in the different modules of the protein [1].
• One of the changes results in a cysteine to serine (C 1057 S) mutation, in the zonadhesin domain of TECTA; this segregates with the disease haplotype on chromosome 11 and is not present in a control population [1].
• The identification of the third family displaying a missense mutation in the vWFD domain of alpha-tectorin underlines the phenotype-genotype correlation based on different mutations in TECTA [8].
• We sequenced the coding exons of the TECTA gene in 4 affected individuals, and we report the clinical features in a Japanese family with nonsyndromic hearing impairment and a mutation in the TECTA gene [9].
• Analysis of key recombinants maps this deafness gene (DFNA12) to a 36-cM interval on chromosome 11q22-24, between markers D11S4120 and D11S912 [7].

Anatomical context of TECTA

• These results further support the involvement of TECTA mutations in autosomal dominant hearing impairment, and suggest that vicinal cysteines are involved in tectorial membrane matrix assembly [2].
• The mutation in the TECTA gene, localized in the zona pellucida domain, was detected in all 4 affected individuals [9].
• In DFNA8/12, an autosomal dominantly inherited type of nonsyndromic hearing impairment, the TECTA gene mutation causes a defect in the structure of the tectorial membrane in the inner ear [3].
• Six to 7 weeks after the optic nerve crush the periodic pattern of eye-specific segregation characteristic of dually innervated tecta was again pronounced [10].
• These are: differential affinities between retinal and tecta loci which normally align the projection by bringing together appropriate pre- and postsynaptic areas and interactions among retinal ganglion cell fibers [11].

Associations of TECTA with chemical compounds

• A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA protein [8].
• Stereological analyses indicated that the incidence of two or more presynaptic profiles converging on the same postsynaptic process was significantly increased in the NMDA-treated, doubly innervated tecta [12].
• To this end, various melatonin derivatives were prepared and their affinity for quail optic tecta melatonin receptor was tested [13].
• 2. Single and multiple unit sites were recorded in the optic tecta and VLVps of ketamine-anesthetized owls [14].
• On average, tectal lobes ipsilateral to the ablated n. isthmi synthesize acetylcholine at a rate which is approximately 58% of that of contralateral tecta [15].

Other interactions of TECTA

• A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment [16].
• We have studied a Swedish pedigree with autosomal dominant NSHI with possible digenic inheritance of the disease, involving locus DFNA12 in chromosome 11 and locus DFNA2 in chromosome 1 [1].
• This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant deafness DFNA12 and the proximal limit of a subset of deletions within Jacobsen syndrome [17].
• In the optic tecta of day-14 embryos, western blot analysis revealed an approx. 30 kDa band, immunoreactive for aquaporin-4, which was increased in day-20 embryos and in chicks [18].
• The distribution of acetylcholinesterase and the activity of choline acetyltransferase was studied in the tecta of normal frogs and frogs without retinal and/or nucleus (n.) isthmi inputs [15].

Analytical, diagnostic and therapeutic context of TECTA

• Sequence analysis of the TECTA gene in the DFNB21-affected family revealed a G to A transition in the donor splice site (GT) of intron 9, predicted to lead to a truncated protein of 971 amino acids [19].
• Extracellular microelectrode recordings from the optic tecta of strabismic owls reveal that many units retain binocular inputs from corresponding points of the two eyes: the left-eye and right-eye receptive fields of individual units are misaligned by an amount predicted by the direction and magnitude of the strabismus [20].
• In Limnodynastes dorsalis neurogenesis of the optic tecta and the pattern of cellular lamination was determined by [3H]thymidine autoradiography [21].
• Release of the anterogradely transported NT-3 in intact tissue was assessed by measuring the amount remaining in synaptosomal preparations after treatment of whole tecta with pharmacological agents [22].

References