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Gene Review

GABRQ  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit theta, Gamma-aminobutyric acid receptor subunit theta, THETA
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Disease relevance of GABRQ


Psychiatry related information on GABRQ

  • Theta oscillation, however, differed from rodents in two important ways: (i) theta occurred when bats explored the environment without locomoting, using distal sensing through echolocation, and (ii) theta was not continuous, but occurred in short intermittent bouts [6].
  • Period amplitude analyses showed significant reductions in delta wave counts but not rapid eye movement counts; power spectral analyses showed reductions in delta as well as theta power [7].
  • RESULTS: Electroconvulsive therapy produced a marked short-term increase in delta and theta power [8].
  • The theta an may therefore be considered a crucial index for sustainable physical activity that is not--or is modestly--fatiguing [9].
  • During wakefulness, RBD patients showed a considerably higher theta power in frontal, temporal, and occipital regions with a lower beta power in the occipital region [10].

High impact information on GABRQ

  • Productive engagement of T cells by antigen-presenting cells (APCs) results in recruitment of PKC theta to the T cell-APC contact area--the immunological synapse--where it interacts with several signaling molecules to induce activation signals essential for productive T cell activation and IL-2 production [1].
  • Following circularization of the linear viral genome, DNA replication very likely proceeds in two phases: an initial phase of theta replication, initiated at one or more of the origins, followed by a rolling-circle mode of replication [11].
  • We obtained a maximum two-point lod score of 6.97 at theta = 0 with the marker D2S389; multipoint linkage analysis yielded a maximum lod score of 7.86 with the marker D2S311 [12].
  • The maximum total pairwise lod score obtained was 3.03 with the microsatellite marker D4S1535 at theta = 0.08 [13].
  • 0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum lod score for this haplotype is 4.83 at theta = 0 [14].

Chemical compound and disease context of GABRQ

  • When the marker site associated with the largest torsion angle (theta max) was considered in each patient, dobutamine increased theta max in all cases (25.2 +/- 10.5 degrees versus 15.8 +/- 7.7 degrees, p less than 0.001), whereas pressure and volume loading had negligible effects [15].
  • In parallel theoretical studies, the dependencies of (1)J, (2)J, and (3)J involving (1)H and (13)C on the C5-C6 (omega) and C6-O6 (theta;) torsion angles in aldohexopyranoside model compounds were computed using density functional theory (DFT) and a special basis set designed to reliably recover the Fermi contact contribution to the coupling [16].
  • The method was verified with the ternary 30 kDa complex between the lanthanide-labeled N-terminal domain of the epsilon exonuclease subunit from the Escherichia coli DNA polymerase III, the subunit theta, and thymidine [17].
  • Two pseudotorsion angles (eta and theta) have been defined, based on the selection of two appropriate pivot points along the RNA backbone, P and C4'. These pseudotorsions, together with a complete library of conventional torsion angles, can be calculated for any RNA structure or all-atom model using a new program called AMIGOS [18].
  • Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy families (Z = 4.37, theta = 0.11) [19].

Biological context of GABRQ

  • Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212 [20].
  • Here, we report on the mapping of a gene causing HOS to the distal long arm of chromosome 12 (12q21-qter) by linkage analysis in nine informative families (Zmax = 6.81 at theta = 0 at the D12S354 locus) [21].
  • The mutation segregates with the disease phenotype (Zmax = 4, theta = 0) strongly suggesting that it causes the macular disease in this family [22].
  • A maximum lod score of 17.9 was obtained at theta = 0 for the haplotype D8S260-D8S510, consisting of the two closest markers [23].
  • We examined two extended histopathologically confirmed EOAD pedigrees, AD/A and AD/B, with highly informative short tandem repeat (STR) polymorphisms and found complete linkage of the disease to a (CA)n dinucleotide repeat polymorphism at locus D14S43 in 14q24.3 (Zmax = 13.25 at theta = 0.0) [24].

Anatomical context of GABRQ

  • GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus [25].
  • However, the expression pattern of theta subunit mRNA was more widespread than that of epsilon subunit, being found also in the cerebral cortex of rat pups [25].
  • Identification of these molecules and determination of their mode of operation with respect to the function of PKC theta will provide essential information on the mechanism of T cell activation [1].
  • Haemin treatment of the K562 cells slightly enhances the level of the longest theta 1-transcript [26].
  • Much of this experimental interest has been stimulated by suggestions that the mnemonic functions of the hippocampus may depend upon theta-related neuronal activity [27].

Associations of GABRQ with chemical compounds

  • theta, a novel gamma-aminobutyric acid type A receptor subunit [28].
  • Based on a linkage analysis of 11 families segregating for this syndrome using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax = 6.46 at theta = 0.02 for marker D4S431 [29].
  • Here we show that the cannabinoids Delta(9)-tetrahydrocannabinol and CP55940 decreased the power of theta, gamma and ripple oscillations in the hippocampus of head-restrained and freely moving rats [30].
  • Despite the profound prolongation of t 1/2 (theta) with age, the constancy of diazepam clearance indicates that drug plasma concentrations will not accumulate any more in the old than the young, and chronic dosage more in the old than the young, and chronic dosage modifications based on pharmacokinetic considerations are unnecessary [31].
  • (this issue of Neuron) report that by selectively filtering out low-level uncorrelated synaptic activity at NMDA receptors in hippocampal cultures they can unlock a large reserve of quiescent synapses and make them available for potentiation with theta burst stimulation [32].

Physical interactions of GABRQ

  • Here we provide evidence that PKC theta is physically and functionally coupled to Akt1 in this signaling pathway [33].
  • The experiments are illustrated by the 30 kDa lanthanide-binding varepsilon186/theta complex of DNA polymerase III in the presence of sub-stoichiometric amounts of Dy(3+) or a mixture of Dy(3+) and La(3+) [34].

Regulatory relationships of GABRQ

  • Field potential recordings from CA1 region in hippocampal slices showed enhanced theta burst-induced long-term potentiation (LTP) in alpha-mannosidase-deficient mice [35].
  • We find that expression of a constitutively active mutant of PKC-theta potently induces NF-kappaB activation and stimulates the RE/AP composite enhancer from the interleukin-2 gene [36].
  • PKC-theta acts directly or indirectly to stimulate phosphorylation of IKKbeta, leading to activation of this enzyme [36].
  • Vav and PKC theta synergistically activated human IL-4 promoter transcription and IL-4 mRNA production and were found to be constitutively associated in vivo [37].
  • Loss of PKC theta expression by induction of "RNA interference" resulted in the attenuation of basal and activation-induced SMRT-receptor interaction [38].

Other interactions of GABRQ

  • In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease [39].
  • Examination of the PCR fragment corresponding to exon 73 of COL7A1 revealed a marked shift in the electrophoretic pattern in patients from a large Finnish dominant dystrophic EB family with genetic linkage to the COL7A1 locus (Z = 5.37, theta = 0) [40].
  • Type I/I families showed homogeneous linkage to SLC3A1 (Zmax > 3.0 at theta = 0.00; alpha = 1), whereas types I/III and III/III were not linked [41].
  • Furthermore, by a genomewide scan, a significant two-point LOD score of 3.45 (recombination fraction [theta] = 0) was obtained between the family with ANFH and marker D12S85 on chromosome 12 [42].
  • We report linkage to chromosome 16q22.1 for one of these genes (SCA4) in a five-generation family with an autosomal dominant, late-onset spinocerebellar ataxia; the gene is tightly linked to the microsatellite marker D16S397 (LOD score = 5.93 at theta = .00) [43].

Analytical, diagnostic and therapeutic context of GABRQ

  • Transcripts of the rat epsilon subunit were detected in brain and heart, whereas the mouse theta subunit mRNA was detectable in brain, lung, and spleen by Northern blot analysis [25].
  • The initial electroencephalogram was judged abnormal in 8 of 27 of the seropositive subjects (30 percent) as compared with none of the controls, with a slowing of fundamental activity, anterior spread [corrected] of alpha rhythm, subnormal reactivity, and unusual anterior theta activities [44].
  • The hippocampal theta rhythm (rhythmical slow activity, RSA) is one of the most thoroughly studied EEG phenomena [27].
  • In this issue of Neuron, Huang et al. show that a version of the classic theta burst stimulation protocol used to induce LTP/LTD in brain slices can be adapted to a transcranial magnetic stimulation (TMS) protocol to rapidly produce long lasting (up to an hour), reversible effects on motor cortex physiology and behavior [45].
  • We used the homozygosity gene-mapping strategy to localize this disorder to the region of chromosome 11p between markers D11S1334 and D11S899 (maximum LOD score 5.02 [theta = 0] at marker D11S926) in five consanguineous families of Saudi Arabian origin [46].


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