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Gene Review:

ACTBP2 - actin, beta pseudogene 2

Homo sapiens

Katsuyama, Y. et al., Miścicka-Sliwka, D. et al., Hohoff, C. et al., von Eggeling, F. et al., Temam, S. et al., et al.

Miścicka-Sliwka, Czarny, Grzybowski, Wozniak, Kozulic, Chen, Bonilla, Silva, von Eggeling, Michel, Günther, Schimmel, Claussen, Gill, d'Aloja, Dupuy, Eriksen, Jangblad, Johnsson, Kloosterman, Kratzer, Lareu, Mevag, Morling, Phillips, Pfitzinger, Rand, Sabatier, Scheithauer, Schmitter, Schneider, Skitsa, Vide, Tsutsumi, Tanaka, Kato, Zhang, Mori, Kobayasi, Kasai, Asaka, Imamura, Miścicka-Sliwka, Grzybowski, Czarny, Woźniak, Lorente, Lorente, Wilson, Budowle, Villanueva,

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Disease relevance of ACTBP2

Loss of heterozygosity at the ACTBP2 locus in lung cancer detected on Elchrom precast Spreadex gels [1].

High impact information on ACTBP2

Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2) [2].
We tested five tetranucleotide microsatellite markers (UT5085, L17686, D9S753, ACTBP2, and CSF1R) in the tumor specimens and paired surgical margins of the patients whose margins were negative on pathological examination [3].
Fifty ACTBP2 amplification products previously typed on a denaturing gel were repeatedly examined to determine the utility of SSCP analysis in terms of ease of interpretation and reproduction capabilities of the conformational patterns [4].
Polymorphic markers (ACTBP2, UT762 and AR) were chosen for their reported high rate of alterations in SCLC and analyzed in tumor tissue, normal blood cells and plasma DNA [5].
Precise differentiation between maternal and fetal nucleated erythrocytes was achieved via PCR by using primers flanking highly polymorphic nucleotide repeats (DIS53, ACTBP2 and D21S11) and with a XY-specific primer pair (amelogenin) [6].

Biological context of ACTBP2

The genetic polymorphism at four variable number of tandem repeats (D1S80, D4S43, COL2A1, D17S5) and one short tandem repeat (ACTBP2) loci was assessed by polymerase chain reaction analysis of genomic DNA obtained from blood samples of eight human populations (Japanese, Northern Han, Hui, Uygur, Kazakh, Saudi Arabian, Greek, Italian) [7].
The locus ACTBP2 (SE33) is localized on chromosome 6 (band 6q14) [8].
Genetic relationships among Japanese, northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian populations based on allelic frequencies at four VNTR (D1S80, D4S43, COL2A1, D17S5) and one STR (ACTBP2) loci [7].
Population genetics of the STRs vWA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, D16S539, LPL, F13B, FESFPS, F13A01 and ACTBP2 in the Pomerania-Kujawy region of Poland [9].
Assignment of ACTBP8 (alias ACTBP2) within or close to human chromosome band 6q13 using a radiation hybrid panel [10].

Anatomical context of ACTBP2

A total of 50 different ACTBP2 (human beta-actin related pseudogene) alleles and the cell line K562 were sequenced and analysed [11].
We analyzed mixed chimerism (MC) after allogeneic stem cell transplantation (SCT) using a capillary electrophoresis system with four kinds of fluorescence-labeled primers for microsatellites (D3S1359, D6S89, ACTBP2, HGH) [12].

Associations of ACTBP2 with chemical compounds

After electrophoresis in polyacrylamide gels, 6 alleles could be identified for HumTHOI, 7 alleles for VWA and 26 alleles for ACTBP2 [13].

Other interactions of ACTBP2

ACTBP2 (alias ACTBP8) is localized on chromosome 6 (band 6q14) [8].
Spanish population data on seven loci: D1S80, D17S5, HUMTH01, HUMVWA, ACTBP2, D21S11 and HLA-DQA1 [14].
The 16 short tandem repeat systems D3S1358, VWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, ACTBP2, D2S1338, D16S539, D19S433, D21S11, D18S51 and D8S1179 were amplified in a population sample composed of 333 immigrants from Afghanistan [15].
The minimum required amounts of this degraded DNA, for detecting alleles at five microsatellite loci (ACTBP2, CMAG, HUMTH01, CYP19, and LPL) and one minisatellite locus (MCT118) were investigated respectively [16].
A ladder of 24 ACTBP2 (SE33) alleles was separated 175 times by denaturing capillary electrophoresis on an ABI Prism 310 Genetic Analyzer using polymer POP-4 [17].

Analytical, diagnostic and therapeutic context of ACTBP2

Eleven sequenced ACTBP2 allelic variants were used as external conformation standards in polymerase chain reaction (PCR)-SSCP subtyping [4].
Report of the European DNA Profiling Group (EDNAP)--an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D12S391 and D1S1656 [18].
Sequence analysis of STR polymorphisms at locus ACTBP2 in the Taiwanese population [19].

References

Loss of heterozygosity at the ACTBP2 locus in lung cancer detected on Elchrom precast Spreadex gels. Kozulic, M., Chen, X.Q., Bonilla, F., Silva, J. Ann. N. Y. Acad. Sci. (2000) [Pubmed]
Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2). Polymeropoulos, M.H., Rath, D.S., Xiao, H., Merril, C.R. Nucleic Acids Res. (1992) [Pubmed]
Tetranucleotide microsatellite instability in surgical margins for prediction of local recurrence of head and neck squamous cell carcinoma. Temam, S., Casiraghi, O., Lahaye, J.B., Bosq, J., Zhou, X., Julieron, M., Mamelle, G., Lee, J.J., Mao, L., Luboinski, B., Benard, J., Janot, F. Clin. Cancer Res. (2004) [Pubmed]
Screening of a highly polymorphic microsatellite for microheterogeneity in human identification. Miścicka-Sliwka, D., Grzybowski, T., Czarny, J., Woźniak, M. Electrophoresis (1998) [Pubmed]
Microsatellite alterations and TP53 mutations in plasma DNA of small-cell lung cancer patients: follow-up study and prognostic significance. Gonzalez, R., Silva, J.M., Sanchez, A., Dominguez, G., Garcia, J.M., Chen, X.Q., Stroun, M., Provencio, M., España, P., Anker, P., Bonilla, F. Ann. Oncol. (2000) [Pubmed]
Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms. von Eggeling, F., Michel, S., Günther, M., Schimmel, B., Claussen, U. Hum. Genet. (1997) [Pubmed]
Genetic relationships among Japanese, northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian populations based on allelic frequencies at four VNTR (D1S80, D4S43, COL2A1, D17S5) and one STR (ACTBP2) loci. Katsuyama, Y., Inoko, H., Imanishi, T., Mizuki, N., Gojobori, T., Ota, M. Hum. Hered. (1998) [Pubmed]
ACTBP2 (alias ACTBP8) is localized on chromosome 6 (band 6q14). Wenda, S., Dauber, E.M., Schwartz, D.W., Jungbauer, C., Weirich, V., Wegener, R., Mayr, W.R. Forensic Sci. Int. (2005) [Pubmed]
Population genetics of the STRs vWA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820, D16S539, LPL, F13B, FESFPS, F13A01 and ACTBP2 in the Pomerania-Kujawy region of Poland. Miścicka-Sliwka, D., Czarny, J., Grzybowski, T., Wozniak, M. Forensic Sci. Int. (2001) [Pubmed]
Assignment of ACTBP8 (alias ACTBP2) within or close to human chromosome band 6q13 using a radiation hybrid panel. Mullokandov, M., Cass, I., Achary, P.M., Klinger, H.P. Cytogenet. Cell Genet. (1997) [Pubmed]
Locus ACTBP2 (SE33). Sequencing data reveal considerable polymorphism. Möller, A., Brinkmann, B. Int. J. Legal Med. (1994) [Pubmed]
Analysis of mixed chimerism in patients after allogeneic stem cell transplantation using a capillary electrophoresis system. Tsutsumi, Y., Tanaka, J., Kato, N., Zhang, L., Mori, A., Kobayasi, R., Kasai, M., Asaka, M., Imamura, M. Acta Haematol. (2002) [Pubmed]
Frequency profiles of 3 STRs in a Turkish population. Alper, B., Wiegand, P., Brinkmann, B. Int. J. Legal Med. (1995) [Pubmed]
Spanish population data on seven loci: D1S80, D17S5, HUMTH01, HUMVWA, ACTBP2, D21S11 and HLA-DQA1. Lorente, M., Lorente, J.A., Wilson, M.R., Budowle, B., Villanueva, E. Forensic Sci. Int. (1997) [Pubmed]
Meiosis study in a population sample from Afghanistan: allele frequencies and mutation rates of 16 STR loci. Hohoff, C., Schürenkamp, M., Börchers, T., Eppink, M., Brinkmann, B. Int. J. Legal Med. (2006) [Pubmed]
Evaluation of five polymorphic microsatellite markers for typing DNA from decomposed human tissues--correlation between the size of the alleles and that of the template DNA. Takahashi, M., Kato, Y., Mukoyama, H., Kanaya, H., Kamiyama, S. Forensic Sci. Int. (1997) [Pubmed]
Reliability of SE33 typing by capillary electrophoresis. Rothämel, T., Kleemann, W.J., Tröger, H.D. Forensic Sci. Int. (2000) [Pubmed]
Report of the European DNA Profiling Group (EDNAP)--an investigation of the hypervariable STR loci ACTBP2, APOAI1 and D11S554 and the compound loci D12S391 and D1S1656. Gill, P., d'Aloja, E., Dupuy, B., Eriksen, B., Jangblad, M., Johnsson, V., Kloosterman, A.D., Kratzer, A., Lareu, M.V., Mevag, B., Morling, N., Phillips, C., Pfitzinger, H., Rand, S., Sabatier, M., Scheithauer, R., Schmitter, H., Schneider, P., Skitsa, I., Vide, M.C. Forensic Sci. Int. (1998) [Pubmed]
Sequence analysis of STR polymorphisms at locus ACTBP2 in the Taiwanese population. Hsieh, H.M., Wu, K.L., Tsai, L.C., Lo, C.H., Linacre, A., Lee, J.C. Forensic Sci. Int. (2002) [Pubmed]

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