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Gene Review

GOLGA2P3Y  -  golgin A2 pseudogene 3, Y-linked

Homo sapiens

Synonyms: GOLGA2LY2, GOLGA2P3
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Disease relevance of GOLGA2LY2

  • Moreover, elevated levels of chromosomal aberrations were detected, including telomeric end-to-end fusions, a signature of telomere dysfunction [1].
  • Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1 [2].
  • Previous studies have shown that a hybrid gene (designated IgT) consisting of an immunoglobulin VH gene segment and T cell receptor J alpha C alpha segments encompasses the telomeric breakpoint in SUP-T1, a cell line derived from a human T cell lymphoma [3].
  • The underlying loci have since been resolved into an aniridia (AN2) locus at a telomeric position, and a locus of closely spaced genes or a single pleiotropic gene involved in genito-urinary tract abnormalities and Wilms tumour at a more centromeric position [4].
  • Telomeric proteins regulate episomal maintenance of Epstein-Barr virus origin of plasmid replication [5].

Psychiatry related information on GOLGA2LY2


High impact information on GOLGA2LY2

  • In vivo, de novo synthesis of one strand of a telomeric repeat sequence by telomerase balances the sequence loss resulting from incomplete replication of linear chromosome ends by RNA primer-requiring DNA polymerases [11].
  • A simple mechanism in which a mobile promoter moves between telomeres has been rendered unlikely by the demonstration that two telomeric transcription units can be simultaneously active when one of them is interrupted by a large DNA insertion.(ABSTRACT TRUNCATED AT 400 WORDS)[12]
  • Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage [13].
  • The skin cells of these mice had marked telomere shortening, loss of the telomeric G-strand overhang and increased chromosomal instability [14].
  • Telomeric heterochromatin propagation and histone acetylation control mutually exclusive expression of antigenic variation genes in malaria parasites [15].

Chemical compound and disease context of GOLGA2LY2

  • These experimental results support a model in which HIV-1 RNA dimerizes by forming an interstrand quadruple helix stabilized by guanine (and/or purine)-base tetrads in analogy to the well-known dimerization of telomeric DNA [16].
  • We conclude that AKT2 belongs to a distinct subfamily of protein-serine/threonine kinases containing Src homology 2-like domains and that alterations of AKT2 may contribute to the pathogenesis of ovarian carcinomas [17].
  • In an adriamycin-selected resistant colon cancer line (S48-3s/Adr), WCP4/WCP7 revealed t(4;7)(q31;q21) and BAC-derived probes demonstrated that the breakpoint lay between MDR1 and sequences 500-1000 KB telomeric to it [18].
  • Treatment of colon cancer cells with MNNG causes DNA damage with reduced telomeric signals in a p53-dependent manner, but increased cell cycle arrest in S-G(2)/M by both p53-dependent and independent mechanisms [19].
  • MATERIALS AND METHODS: The TRF, TA and hTR of 11 human ovarian cancer cell lines and 2 cisplatin-resistant ovarian cancer cell lines were determined by genomic Southern blotting, a telomeric repeat amplification protocol and reverse transcription-polymerase chain reaction [20].

Biological context of GOLGA2LY2

  • With the exception of some telomeric regions, and the chromosomal regions of simple sequence DNA, Alu and L1 are precisely inversely distributed, suggesting an inverse functional relationship [21].
  • Targeted breakage of a human chromosome mediated by cloned human telomeric DNA [22].
  • However, poorly spread or contracted metaphase chromosomes and highly rearranged karyotypes with numerous marker chromosomes, common in tumour cell preparations, are often difficult to interpret unambiguously and subtle chromosomal aberrations, in particular the exchange of telomeric chromatin or small insertions remain elusive [23].
  • Therefore, the exclusively circular genome lacking telomeric sequences is proficient for mitotic growth, but does not permit meiosis [24].
  • We show that the single-strand telomeric overhang, a key component of telomere structure, is eroded at senescence [25].

Anatomical context of GOLGA2LY2

  • Recovery of the end clones by plasmid rescue produces a telomeric marker for each cell line and partial sequencing will allow the generation of sequence tagged sites (STSs) [26].
  • The most commonly observed defect affecting telomeres in humans is telomeric fusions, particularly in T lymphocytes in AT patients [27].
  • Two closely flanking copies of the survival motor neuron (SMN) gene are on chromosome 5q13 (ref. 1). The telomeric SMN (SMN1) copy is homozygously deleted or converted in >95% of SMA patients, while a small number of SMA disease alleles contain missense mutations within the carboxy terminus [28].
  • Telomerase-positive Rad51d(-/-) Trp53(-/-) primary mouse embryonic fibroblasts (MEFs) exhibited telomeric DNA repeat shortening compared to Trp53(-/-) or wild-type MEFs [1].
  • Telomerase is present in both normal and AT lymphocytes and so neither telomere shortening nor telomeric fusions can be explained by the absence of telomerase [27].

Associations of GOLGA2LY2 with chemical compounds

  • Telomeric ends of chromosomes, which comprise noncoding repeat sequences of guanine-rich DNA, are fundamental in protecting the cell from recombination and degradation [29].
  • Telomeres have been intensively studied in the yeast Saccharomyces cerevisiae and in ciliated protozoa: in these organisms the telomeric DNA consists of arrays of tandemly repeated short sequences in which one strand is guanosine-rich and oriented 5' to 3' towards the chromosome end [30].
  • Recently, we have shown that activation of the VSG-1 gene in the BoTaR (Bordeaux trypanozoon antigen repertoire) serodeme of Trypanosoma equiperdum involves the duplication and transposition of a telomeric BC gene into one of at least three unlinked telomeric sites [31].
  • A factor from avian cells formed complexes with telomeric sequences and other single-stranded probes that contained tracts of guanine residues [32].
  • Substitutions of deoxyinosine (dI) for deoxyguanosine (dG) demonstrated that the exocyclic N2 amino groups in the internal telomeric repeat, but not the terminal repeat, were required for the formation of the chemically protected structure and for protein binding [32].

Physical interactions of GOLGA2LY2

  • Twenty residues of the human choriogonadotropin (hCG) beta-subunit that are wrapped around alpha-subunit loop 2 like a "seatbelt" stabilize the heterodimer and enable the hormone to distinguish lutropin (LHR), follitropin, and thyrotropin receptors [33].

Regulatory relationships of GOLGA2LY2

  • Type 2-like AvWS in children with congenital heart valve defects is caused by shear stress-induced proteolysis of large vWF multimers and is reversible after surgical correction [34].

Other interactions of GOLGA2LY2

  • Sequence analysis and in vitro translation demonstrated that AKT2 encodes a 56-kDa protein with homology to serine/threonine kinases; moreover, this protein contains a Src homology 2-like domain [17].
  • Bcl-2/adenovirus E1B 19 kDa interacting protein 2-like, BNIP-2-like (BNIPL) is a recently cloned and characterized apoptosis-associated protein that shares 72% homology with BNIP-2 [35].
  • We describe the characterization of a novel human netrin-2-like gene, designated NTN2L, and its transcript [36].
  • This study showed a tendency of PBMC from atopic donors to express a type 2-like cytokine pattern, with IL-4 as the most discriminatory cytokine [37].
  • Sequencing of six candidate genes in the 1.4 cM linked region identified a frameshift mutation (1609-1610insC) resulting in a premature translation stop codon in exon 14 of the gene TFCP2L3 (transcription factor cellular promoter 2-like 3) [38].

Analytical, diagnostic and therapeutic context of GOLGA2LY2

  • By in situ hybridization and genetic mapping, Csf2ra maps at telomeric band D2 of mouse chromosome 19 [39].
  • Electron microscopy analysis of psoralen cross-linked telomeric DNA purified from human and mouse cells revealed abundant large t loops with a size distribution consistent with their telomeric origin [40].
  • Analysis of the multiple copies of this gene present in all IITaR 1 trypanosome clones by restriction enzyme mapping and sequencing shows that the expressed copy may have arisen by duplication and transposition to a telomeric site, as is observed for those VSG genes whose expression is linked to duplication [41].
  • To determine whether this is the case we have inserted into a plasmid the Tetrahymena telomeric motif (G4T2).(A2C4) and probed it by two-dimensional gel electrophoresis, chemical modification and oligonucleotide binding [42].
  • Here, we show that the amount and length of telomeric DNA in human fibroblasts does in fact decrease as a function of serial passage during ageing in vitro and possibly in vivo [43].


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  2. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J.M., Wienker, T.F., Sendtner, M., Rudnik-Schöneborn, S., Zerres, K., Hübner, C. Nat. Genet. (2001) [Pubmed]
  3. The mechanism of chromosome 14 inversion in a human T cell lymphoma. Baer, R., Forster, A., Rabbitts, T.H. Cell (1987) [Pubmed]
  4. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Gessler, M., Poustka, A., Cavenee, W., Neve, R.L., Orkin, S.H., Bruns, G.A. Nature (1990) [Pubmed]
  5. Telomeric proteins regulate episomal maintenance of Epstein-Barr virus origin of plasmid replication. Deng, Z., Lezina, L., Chen, C.J., Shtivelband, S., So, W., Lieberman, P.M. Mol. Cell (2002) [Pubmed]
  6. Amyloid beta-protein deposition in tissues other than brain in Alzheimer's disease. Joachim, C.L., Mori, H., Selkoe, D.J. Nature (1989) [Pubmed]
  7. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Veltman, J.A., Schoenmakers, E.F., Eussen, B.H., Janssen, I., Merkx, G., van Cleef, B., van Ravenswaaij, C.M., Brunner, H.G., Smeets, D., van Kessel, A.G. Am. J. Hum. Genet. (2002) [Pubmed]
  8. Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus. Meyer, J., Ortega, G., Schraut, K., Nürnberg, G., Rüschendorf, F., Saar, K., Mössner, R., Wienker, T.F., Reis, A., Stöber, G., Lesch, K.P. Mol. Psychiatry (2002) [Pubmed]
  9. Replication timing of human telomeric DNA and other repetitive sequences analyzed by fluorescence in situ hybridization and flow cytometry. Hultdin, M., Grönlund, E., Norrback, K.F., Just, T., Taneja, K., Roos, G. Exp. Cell Res. (2001) [Pubmed]
  10. The narcolepsy-associated DRw15,DQw6,Dw2 haplotype has no unique HLA-DQA or -DQB restriction fragments and does not extend to the HLA-DP subregion. Olerup, O., Schaffer, M., Hillert, J., Sachs, C. Immunogenetics (1990) [Pubmed]
  11. Ciliate telomerase biochemistry. Collins, K. Annu. Rev. Biochem. (1999) [Pubmed]
  12. Discontinuous transcription and antigenic variation in trypanosomes. Borst, P. Annu. Rev. Biochem. (1986) [Pubmed]
  13. Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage. Bradshaw, P.S., Stavropoulos, D.J., Meyn, M.S. Nat. Genet. (2005) [Pubmed]
  14. XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Muñoz, P., Blanco, R., Flores, J.M., Blasco, M.A. Nat. Genet. (2005) [Pubmed]
  15. Telomeric heterochromatin propagation and histone acetylation control mutually exclusive expression of antigenic variation genes in malaria parasites. Freitas-Junior, L.H., Hernandez-Rivas, R., Ralph, S.A., Montiel-Condado, D., Ruvalcaba-Salazar, O.K., Rojas-Meza, A.P., Mâncio-Silva, L., Leal-Silvestre, R.J., Gontijo, A.M., Shorte, S., Scherf, A. Cell (2005) [Pubmed]
  16. Evidence for interstrand quadruplex formation in the dimerization of human immunodeficiency virus 1 genomic RNA. Sundquist, W.I., Heaphy, S. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  17. AKT2, a putative oncogene encoding a member of a subfamily of protein-serine/threonine kinases, is amplified in human ovarian carcinomas. Cheng, J.Q., Godwin, A.K., Bellacosa, A., Taguchi, T., Franke, T.F., Hamilton, T.C., Tsichlis, P.N., Testa, J.R. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  18. Cytogenetic and molecular characterization of random chromosomal rearrangements activating the drug resistance gene, MDR1/P-glycoprotein, in drug-selected cell lines and patients with drug refractory ALL. Knutsen, T., Mickley, L.A., Ried, T., Green, E.D., du Manoir, S., Schröck, E., Macville, M., Ning, Y., Robey, R., Polymeropoulos, M., Torres, R., Fojo, T. Genes Chromosomes Cancer (1998) [Pubmed]
  19. DNA damage-induced cell cycle checkpoints involve both p53-dependent and -independent pathways: role of telomere repeat binding factor 2. Narayan, S., Jaiswal, A.S., Multani, A.S., Pathak, S. Br. J. Cancer (2001) [Pubmed]
  20. Correlation of chemosensitivity to anticancer drugs and telomere length, telomerase activity and telomerase RNA expression in human ovarian cancer cells. Kiyozuka, Y., Yamamoto, D., Yang, J., Uemura, Y., Senzaki, H., Adachi, S., Tsubura, A. Anticancer Res. (2000) [Pubmed]
  21. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Korenberg, J.R., Rykowski, M.C. Cell (1988) [Pubmed]
  22. Targeted breakage of a human chromosome mediated by cloned human telomeric DNA. Itzhaki, J.E., Barnett, M.A., MacCarthy, A.B., Buckle, V.J., Brown, W.R., Porter, A.C. Nat. Genet. (1992) [Pubmed]
  23. Hidden chromosome abnormalities in haematological malignancies detected by multicolour spectral karyotyping. Veldman, T., Vignon, C., Schröck, E., Rowley, J.D., Ried, T. Nat. Genet. (1997) [Pubmed]
  24. Circular chromosome formation in a fission yeast mutant defective in two ATM homologues. Naito, T., Matsuura, A., Ishikawa, F. Nat. Genet. (1998) [Pubmed]
  25. Erosion of the telomeric single-strand overhang at replicative senescence. Stewart, S.A., Ben-Porath, I., Carey, V.J., O'Connor, B.F., Hahn, W.C., Weinberg, R.A. Nat. Genet. (2003) [Pubmed]
  26. Telomere-associated chromosome fragmentation: applications in genome manipulation and analysis. Farr, C.J., Stevanovic, M., Thomson, E.J., Goodfellow, P.N., Cooke, H.J. Nat. Genet. (1992) [Pubmed]
  27. Accelerated telomere shortening in ataxia telangiectasia. Metcalfe, J.A., Parkhill, J., Campbell, L., Stacey, M., Biggs, P., Byrd, P.J., Taylor, A.M. Nat. Genet. (1996) [Pubmed]
  28. SMN oligomerization defect correlates with spinal muscular atrophy severity. Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Le, T., Burghes, A.H., Androphy, E.J. Nat. Genet. (1998) [Pubmed]
  29. Crystal structure of parallel quadruplexes from human telomeric DNA. Parkinson, G.N., Lee, M.P., Neidle, S. Nature (2002) [Pubmed]
  30. Molecular cloning of human telomeres in yeast. Brown, W.R. Nature (1989) [Pubmed]
  31. Stability of expression-linked surface antigen gene in Trypanosoma equiperdum. Buck, G.A., Longacre, S., Raibaud, A., Hibner, U., Giroud, C., Baltz, T., Baltz, D., Eisen, H. Nature (1984) [Pubmed]
  32. Nucleic acid specificity of a vertebrate telomere-binding protein: evidence for G-G base pair recognition at the core-binding site. Gualberto, A., Patrick, R.M., Walsh, K. Genes Dev. (1992) [Pubmed]
  33. Only a portion of the small seatbelt loop in human choriogonadotropin appears capable of contacting the lutropin receptor. Bernard, M.P., Lin, W., Cao, D., Myers, R.V., Xing, Y., Moyle, W.R. J. Biol. Chem. (2004) [Pubmed]
  34. Immune-mediated etiology of acquired von Willebrand syndrome in systemic lupus erythematosus and in benign monoclonal gammopathy: therapeutic implications. Michiels, J.J., Berneman, Z., Gadisseur, A., van der Planken, M., Schroyens, W., Budde, U., van Vliet, H.H. Semin. Thromb. Hemost. (2006) [Pubmed]
  35. The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER. Shen, L., Hu, J., Lu, H., Wu, M., Qin, W., Wan, D., Li, Y.Y., Gu, J. FEBS Lett. (2003) [Pubmed]
  36. The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3. Van Raay, T.J., Foskett, S.M., Connors, T.D., Klinger, K.W., Landes, G.M., Burn, T.C. Genomics (1997) [Pubmed]
  37. Differential spontaneous expression of mRNA for IL-4, IL-10, IL-13, IL-2 and interferon-gamma (IFN-gamma) in peripheral blood mononuclear cells (PBMC) from atopic patients. Esnault, S., Benbernou, N., Lavaud, F., Shin, H.C., Potron, G., Guenounou, M. Clin. Exp. Immunol. (1996) [Pubmed]
  38. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Peters, L.M., Anderson, D.W., Griffith, A.J., Grundfast, K.M., San Agustin, T.B., Madeo, A.C., Friedman, T.B., Morell, R.J. Hum. Mol. Genet. (2002) [Pubmed]
  39. The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse. Disteche, C.M., Brannan, C.I., Larsen, A., Adler, D.A., Schorderet, D.F., Gearing, D., Copeland, N.G., Jenkins, N.A., Park, L.S. Nat. Genet. (1992) [Pubmed]
  40. Mammalian telomeres end in a large duplex loop. Griffith, J.D., Comeau, L., Rosenfield, S., Stansel, R.M., Bianchi, A., Moss, H., de Lange, T. Cell (1999) [Pubmed]
  41. Relationship between multiple copies of a T. brucei variable surface glycoprotein gene whose expression is not controlled by duplication. Young, J.R., Shah, J.S., Matthyssens, G., Williams, R.O. Cell (1983) [Pubmed]
  42. An unusual DNA structure detected in a telomeric sequence under superhelical stress and at low pH. Lyamichev, V.I., Mirkin, S.M., Danilevskaya, O.N., Voloshin, O.N., Balatskaya, S.V., Dobrynin, V.N., Filippov, S.A., Frank-Kamenetskii, M.D. Nature (1989) [Pubmed]
  43. Telomeres shorten during ageing of human fibroblasts. Harley, C.B., Futcher, A.B., Greider, C.W. Nature (1990) [Pubmed]
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