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Gene Review:

ERV1 - endogenous retroviral sequence 1

Homo sapiens

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Disease relevance of ERV1

Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3) [1].
A human endogenous retroviral sequence encoding an antigen recognized on melanoma by cytolytic T lymphocytes [2].
Two subgenomic regions within the major histocompatibility complex, the alpha and beta blocks, contain members of the multicopy gene families HLA class I, human endogenous retroviral sequence (HERV-16; previously known as P5 and PERB3), hemochromatosis candidate genes (HCG) (II, IV, VIII, IX), 3.8-1, and MIC (PERB11) [3].
A novel endogenous retroviral sequence (ERV-9) has been isolated from a human embryonal carcinoma cDNA library by hybridization to a probe containing a recently described human repetitive element [4].
The activation of human endogenous retroviral sequence transcription by ultraviolet B may contribute to the pathogenesis of lupus erythematosus, where inappropriate antigenic presentation of ultraviolet B-induced viral and cellular proteins could stimulate autoantibody production [5].

High impact information on ERV1

Here we have used a panel of rodent x human somatic cell hybrids to assign the chromosomal localization of this segment, called ERV1 (endogenous retrovirus-1), to human chromosome 18 (HSA 18) [6].
Thus, HRES-1 is a human endogenous retroviral sequence capable of protein expression [7].
The sequence obtained from this clone reveals the presence of an endogenous retroviral sequence (HERV-H) in the midst of the FRA7G region as well as sequences with homology to small polydispersed circular DNAs (spcDNAs) [8].
Therefore, we investigated the influence of ultraviolet irradiation on expression of human endogenous retroviral sequences and human endogenous retroviral sequence promoter-driven transcription of cellular genes using human epidermal keratinocytes as a model system [5].
We show that this translocation led to the juxtaposition of the immunoglobulin heavy chain locus on chromosome 14 to an endogenous retroviral sequence belonging to the THE family (transposable-like human element) on chromosome 7q21 [9].

Biological context of ERV1

This probe was used to map the LTR of ERV1 by in situ hybridization to chromosomes from normal human blood lymphocytes [10].
From a clone containing the entire locus of human endogenous retroviral element ERV1, we have obtained a DNA probe that is specific for the 3' long terminal repeat (LTR) sequence [10].
A novel highly repetitive retrotransposable element was cloned based on a limited sequence homology to the human T-cell leukemia virus and a related endogenous retroviral sequence, HRES-1 [11].
Involvement of a human endogenous retroviral sequence (THE-7) in a t(7;14)(q21;q32) chromosomal translocation associated with a B cell chronic lymphocytic leukemia [9].

Anatomical context of ERV1

It is suggested that the RV3-27 mAb may be reactive with a syncytiotrophoblast antigen encoded by an endogenous retroviral sequence [12].

Other interactions of ERV1

Since this new endogenous retroviral sequence is located in the close vicinity of the locus of the human gene coding for the T-cell receptor (TcR) alpha and delta chains on chromosome 14, it could be of potential interest for the understanding of MS pathogenesis [13].

Analytical, diagnostic and therapeutic context of ERV1

Chromosomal localization of human endogenous retroviral element ERV1 to 18q22----q23 by in situ hybridization [10].

References

Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3). Guasch, G., Popovici, C., Mugneret, F., Chaffanet, M., Pontarotti, P., Birnbaum, D., Pébusque, M.J. Blood (2003) [Pubmed]
A human endogenous retroviral sequence encoding an antigen recognized on melanoma by cytolytic T lymphocytes. Schiavetti, F., Thonnard, J., Colau, D., Boon, T., Coulie, P.G. Cancer Res. (2002) [Pubmed]
Different evolutionary histories in two subgenomic regions of the major histocompatibility complex. Gaudieri, S., Kulski, J.K., Dawkins, R.L., Gojobori, T. Genome Res. (1999) [Pubmed]
Identification and characterization of novel human endogenous retroviral sequences prefentially expressed in undifferentiated embryonal carcinoma cells. La Mantia, G., Maglione, D., Pengue, G., Di Cristofano, A., Simeone, A., Lanfrancone, L., Lania, L. Nucleic Acids Res. (1991) [Pubmed]
Transcriptional activation of endogenous retroviral sequences in human epidermal keratinocytes by UVB irradiation. Hohenadl, C., Germaier, H., Walchner, M., Hagenhofer, M., Herrmann, M., Stürzl, M., Kind, P., Hehlmann, R., Erfle, V., Leib-Mösch, C. J. Invest. Dermatol. (1999) [Pubmed]
Mapping of an endogenous retroviral sequence to human chromosome 18. O'Brien, S.J., Bonner, T.I., Cohen, M., O'Connell, C., Nash, W.G. Nature (1983) [Pubmed]
Human T-cell lymphotropic virus (HTLV)-related endogenous sequence, HRES-1, encodes a 28-kDa protein: a possible autoantigen for HTLV-I gag-reactive autoantibodies. Banki, K., Maceda, J., Hurley, E., Ablonczy, E., Mattson, D.H., Szegedy, L., Hung, C., Perl, A. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
FRA7G extends over a broad region: coincidence of human endogenous retroviral sequences (HERV-H) and small polydispersed circular DNAs (spcDNA) and fragile sites. Huang, H., Qian, J., Proffit, J., Wilber, K., Jenkins, R., Smith, D.I. Oncogene (1998) [Pubmed]
Involvement of a human endogenous retroviral sequence (THE-7) in a t(7;14)(q21;q32) chromosomal translocation associated with a B cell chronic lymphocytic leukemia. Wahbi, K., Hayette, S., Callanan, M., Gadoux, M., Charrin, C., Magaud, J.P., Rimokh, R. Leukemia (1997) [Pubmed]
Chromosomal localization of human endogenous retroviral element ERV1 to 18q22----q23 by in situ hybridization. Renan, M.J., Reeves, B.R. Cytogenet. Cell Genet. (1987) [Pubmed]
Cloning and expression of the human gene for transaldolase. A novel highly repetitive element constitutes an integral part of the coding sequence. Banki, K., Halladay, D., Perl, A. J. Biol. Chem. (1994) [Pubmed]
A murine monoclonal antibody (RV3-27) raised against isolated human placental endogenous retroviral particles and reactive with syncytiotrophoblast. Mwenda, J.M., Maher, P.M., Melling, G.C., Lyden, T.W., Johnson, P.M. J. Reprod. Immunol. (1994) [Pubmed]
An endogenous retrovirus with nucleic acid sequences similar to those of the multiple sclerosis associated retrovirus at the human T-cell receptor alpha, delta gene locus. Alliel, P.M., Périn, J.P., Pierig, R., Rieger, F. Cell. Mol. Biol. (Noisy-le-grand) (1998) [Pubmed]

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