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ABR  -  active BCR-related

Homo sapiens

Synonyms: Active breakpoint cluster region-related protein, MDB
 
 
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Disease relevance of ABR

  • The ABR GAP domain expressed as an Escherichia coli fusion protein was active against Rac1 and Cdc42 of the rho subfamily [1].
  • This report provides new physical mapping data for the ABR gene, which has not been previously shown to be deleted in medulloblastoma [2].
  • Comparative analysis of multiple lymphomas carrying rearrangements within the ABR showed that the breakpoints cluster within a 20-kb distance [3].
  • Genetic alterations in this region may also affect expression of immediately adjacent genes, such as ABR, and could be a common mechanism in the causation of primitive neuroectodermal tumors [4].
  • Interpeak intervals of the auditory brainstem evoked electric response (ABR) were measured in 13 patients showing a characteristic slow rhythmic tremor and a more or less marked chronic cerebellar ataxia [5].
 

Psychiatry related information on ABR

  • Relative to humans, ABR response latencies in monkeys were less affected by stimulus intensity, stimulus rate, and masker level [6].
  • Comparisons were made of the ABR latencies of tinnitus (T) and nontinnitus (NT) patient groups balanced for age and gender and matched for acoustic reflex threshold (ART)s, 1000 to 4000 Hz and 4000 Hz auditory thresholds, and normal hearing [7].
  • Auditory-brainstem synchronicity in dyslexia measured using the REPs/ABR protocol [8].
  • In addition, the conflicting results of elevated pure-tone thresholds with normal immittance measures and normal ABR findings suggested that four (11.8%) subjects exhibited functional hearing loss [9].
  • The ABR findings for 11 subjects with Rett syndrome were compared with two normal control groups, one female and the other male [10].
 

High impact information on ABR

  • Eight autistic children (and no control subjects) had ABR transmission time values 3 SDs beyond the normal mean, suggesting auditory processing defects peripheral to or within the brainstem auditory pathway [11].
  • In eight normal men (group I), we measured MSNA (microneurography) during sustained elevation of arterial pressure produced by intravenous infusion of phenylephrine (PE) alone (combined ABR and CBR activation) versus during PE infusion with superimposed application of sustained external neck pressure (NP) [12].
  • Arterial baroreceptors in the carotid sinus (CBR) and aortic arch (ABR) regions exert important control over heart rate and peripheral vascular responses to changes in arterial pressure [12].
  • Translocations involving the ABR may juxtapose BCL-6 to distantly acting, heterologous transcriptional regulatory elements which cause deregulation of the proto-oncogene [3].
  • Breakpoints within this newly described region, which we called the alternative breakpoint region (ABR), were found to be recurrent in lymphomas carrying t(3q27) chromosomal translocations but devoid of BCL-6 MBR rearrangements [3].
 

Chemical compound and disease context of ABR

 

Biological context of ABR

  • The brain cDNA encoded a 98-kDa protein (ABR) resembling BCR (68% identity), containing both the oncogene dbl-related domain at the N terminus and the GAP domain at the C terminus; however, it lacks the N-terminal BCR protein kinase domain [1].
  • In contrast, the ABR gene is located on chromosome 17p [17].
  • In contrast with the other BCR-related genes studied to date, ABR represents a functionally active gene and contains exons very similar to those found within the Mbcr [17].
  • Unlike the BCR gene, the ABR gene exhibits great genomic variability caused by two different variable tandem repeat regions located in two introns [17].
  • Of the 14 tumors showing loss of heterozygosity by restriction fragment length polymorphism analysis, 14 of 14 (100%) displayed loss of the telomeric marker p144-D6 (D17S34), while a probe for the ABR gene on 17p13.3 was lost in 7 of 8 (88%) informative cases [2].
 

Anatomical context of ABR

  • NP was applied during sustained PE infusion to eliminate the increase in transmural carotid sinus pressure and thus remove CBR activation, thereby causing ABR stimulation alone [12].
  • The effect of 4 wk of streptozocin (STZ)-induced diabetes on the transmission time of the auditory-evoked brain stem response (ABR) was examined in conscious male Sprague-Dawley rats [18].
  • The efficacy of auditory nerve brainstem evoked response (ABR) in the diagnosis and localization of brainstem lesions and its prognostic value in determining outcome were examined in 30 deeply comatose children [19].
  • In the present report the 17p13.3-ter locus in tumour DNA of breast cancer patients, along with their matching normal lymphocyte DNA, have been mapped with four markers (D17S5, D17S379, ABR and D17S34), spanning nearly 3 cM of the telomer [20].
  • No significant correlation appeared between ABR test failure and intraventricular hemorrhage, hyaline membrane disease, perinatal asphyxia, hyperbilirubinemia, or aminoglycoside therapy [21].
 

Associations of ABR with chemical compounds

  • The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins [1].
  • Infusion of PE (ABR and CBR activation) increased mean arterial pressure from 87.2 +/- 2.8 to 94.9 +/- 2.9 mm Hg (+/- SE, p less than .001) [12].
  • Stereoselective procedures are described for the synthesis of 6-alkyluridines by Lewis acid-catalyzed condensation of (a) trimethylsilylated 6-alkyl-4-alkylthiouracils with 1-O-acetyl-2,3,5-tri-O-benzoyl-beta-D-ribofuranose (ABR) and (b) trimethylsilylated 6-alkyl-3-benzyluracils with ABR [22].
  • The present results suggest that the SEP may be a sensitive marker for the massive entry of bilirubin into the nervous system, and could serve as part of an evoked potential battery (in addition to visual evoked potential and ABR) in assessing bilirubin-induced neurotoxicity in jaundiced newborns and infants [23].
  • However, there was no significant difference in elevation of ABR threshold between the rat with mtDNA4834 deletion induced by d-galactose and control [24].
 

Other interactions of ABR

  • A second breakpoint cluster has also been identified upstream of the first BCL6 noncoding exon (the alternative breakpoint region [ABR]) [25].
  • The colocalization of endogenous AOP-1 and exogenous ABR proteins in the cell was demonstrated by confocal immunofluorescence [26].
  • The putative region excludes the p53 gene and the ABR gene, which have been favoured by others [27].
  • We show that this sequence resulted from the splicing of three new exons located telomeric to the Flambda-1 gene, highly homologous to beta-glucuronidase exon 11 (Chr 7), to the ABR exon 8 (Chr 17), and to an Expressed Sequence Tag (EST), respectively [28].
  • The aim of this study was to investigate ABR and P300 auditory evoked potentials in children with ADHD, in a double-blind study [29].
 

Analytical, diagnostic and therapeutic context of ABR

References

  1. The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins. Tan, E.C., Leung, T., Manser, E., Lim, L. J. Biol. Chem. (1993) [Pubmed]
  2. Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma. McDonald, J.D., Daneshvar, L., Willert, J.R., Matsumura, K., Waldman, F., Cogen, P.H. Genomics (1994) [Pubmed]
  3. Alternative translocation breakpoint cluster region 5' to BCL-6 in B-cell non-Hodgkin's lymphoma. Butler, M.P., Iida, S., Capello, D., Rossi, D., Rao, P.H., Nallasivam, P., Louie, D.C., Chaganti, S., Au, T., Gascoyne, R.D., Gaidano, G., Chaganti, R.S., Dalla-Favera, R. Cancer Res. (2002) [Pubmed]
  4. Deletion within the D17S34 locus in a primitive neuroectodermal tumor. Haataja, L., Raffel, C., Ledbetter, D.H., Tanigami, A., Petersen, D., Heisterkamp, N., Groffen, J. Cancer Res. (1997) [Pubmed]
  5. Slow tremor and delayed brainstem auditory evoked responses in alcoholics. Rosenhamer, H.J., Silfverskiöld, B.P. Arch. Neurol. (1980) [Pubmed]
  6. Auditory evoked brainstem and middle latency responses in Macaca mulatta and humans. Lasky, R.E., Maier, M.M., Snodgrass, E.B., Laughlin, N.K., Hecox, K.E. Hear. Res. (1995) [Pubmed]
  7. The effect of tinnitus on ABR latencies. Ikner, C.L., Hassen, A.H. Ear and hearing. (1990) [Pubmed]
  8. Auditory-brainstem synchronicity in dyslexia measured using the REPs/ABR protocol. Lauter, J.L., Wood, S.B. Ann. N. Y. Acad. Sci. (1993) [Pubmed]
  9. Hearing loss in prison inmates. Jacobson, C.A., Jacobson, J.T., Crowe, T.A. Ear and hearing. (1989) [Pubmed]
  10. Auditory brainstem response findings in Rett syndrome. Pelson, R.O., Budden, S.S. Brain Dev. (1987) [Pubmed]
  11. Auditory brainstem evoked responses in autistic children. Tanguay, P.E., Edwards, R.M., Buchwald, J., Schwafel, J., Allen, V. Arch. Gen. Psychiatry (1982) [Pubmed]
  12. Arterial baroreflex control of sympathetic nerve activity during elevation of blood pressure in normal man: dominance of aortic baroreflexes. Sanders, J.S., Ferguson, D.W., Mark, A.L. Circulation (1988) [Pubmed]
  13. The effects of brain bilirubin deposition on auditory brain stem evoked responses in rats. Karplus, M., Lee, C., Cashore, W.J., Oh, W. Early Hum. Dev. (1988) [Pubmed]
  14. Effect of hypoxemia and ethacrynic acid on ABR and distortion product emission thresholds. Freeman, S., Goitein, K., Attias, J., Furst, M., Sohmer, H. J. Neurol. Sci. (1995) [Pubmed]
  15. Amelioration of cisplatin-induced ototoxicity by fosfomycin. Schweitzer, V.G., Dolan, D.F., Abrams, G.E., Davidson, T., Snyder, R. Laryngoscope (1986) [Pubmed]
  16. Otoacoustic emission amplification after inner hair cell damage. Wake, M., Anderson, J., Takeno, S., Mount, R.J., Harrison, R.V. Acta Otolaryngol. (1996) [Pubmed]
  17. ABR, an active BCR-related gene. Heisterkamp, N., Morris, C., Groffen, J. Nucleic Acids Res. (1989) [Pubmed]
  18. Tolrestat, an aldose reductase inhibitor, prevents nerve dysfunction in conscious diabetic rats. Notvest, R.R., Inserra, J.J. Diabetes (1987) [Pubmed]
  19. Diagnostic and prognostic value of auditory nerve brainstem evoked responses in comatose children. Goitein, K.J., Amit, Y., Fainmesser, P., Sohmer, H. Crit. Care Med. (1983) [Pubmed]
  20. Prognostic significance of loss of heterozygosity at loci on chromosome 17p13.3-ter in sporadic breast cancer is evidence for a putative tumour suppressor gene. Liscia, D.S., Morizio, R., Venesio, T., Palenzona, C., Donadio, M., Callahan, R. Br. J. Cancer (1999) [Pubmed]
  21. Auditory brainstem responses in preterm neonates: maturation and follow-up. Roberts, J.L., Davis, H., Phon, G.L., Reichert, T.J., Sturtevant, E.M., Marshall, R.E. J. Pediatr. (1982) [Pubmed]
  22. 6-Substituted and 5,6-disubstituted derivatives of uridine: stereoselective synthesis, interaction with uridine phosphorylase, and in vitro antitumor activity. Felczak, K., Drabikowska, A.K., Vilpo, J.A., Kulikowski, T., Shugar, D. J. Med. Chem. (1996) [Pubmed]
  23. Postnatal development of somatosensory evoked potential in jaundiced Gunn rats and effects of sulfadimethoxine administration. Silver, S., Sohmer, H., Kapitulnik, J. Pediatr. Res. (1996) [Pubmed]
  24. The effect of the mtDNA4834 deletion on hearing. Kong, W.J., Hu, Y.J., Wang, Q., Wang, Y., Han, Y.C., Cheng, H.M., Kong, W., Guan, M.X. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  25. A novel t(2;3)(p11;q27) in a case of follicular lymphoma. Tapinassi, C., Micucci, C., Lahortiga, I., Malazzi, O., Gasparini, P., Gorosquieta, A., Odero, M.D., Belloni, E. Cancer Genet. Cytogenet. (2007) [Pubmed]
  26. Abrin triggers cell death by inactivating a thiol-specific antioxidant protein. Shih, S.F., Wu, Y.H., Hung, C.H., Yang, H.Y., Lin, J.Y. J. Biol. Chem. (2001) [Pubmed]
  27. Deletion mapping on chromosome 17p in medulloblastoma. Steichen-Gersdorf, E., Baumgartner, M., Kreczy, A., Maier, H., Fink, F.M. Br. J. Cancer (1997) [Pubmed]
  28. Composite exon structure of an unusual Ig lambda-like gene located at human 22q11 position. Schiff, C., Milili, M., Zucman-Rossi, J., Djabali, M., Fougereau, M. Mamm. Genome (1996) [Pubmed]
  29. ABR and auditory P300 findings in children with ADHD. Schochat, E., Scheuer, C.I., Andrade, E.R. Arquivos de neuro-psiquiatria. (2002) [Pubmed]
  30. The t(2;3)(q21;q27) translocation in non-Hodgkin's lymphoma displays BCL6 mutations in the 5' regulatory region and chromosomal breakpoints distant from the gene. Chen, W., Butler, M., Rao, P.H., Chaganti, S.R., Louie, D.C., Dalla-Favera, R., Chaganti, R.S. Oncogene (1998) [Pubmed]
  31. Follow-up of infants screened by auditory brainstem response in the neonatal intensive care unit. Stein, L., Ozdamar, O., Kraus, N., Paton, J. J. Pediatr. (1983) [Pubmed]
 
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