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Gene Review:

OATL2 - ornithine aminotransferase-like 2

Homo sapiens

This record was discontinued.

Shipley, J.M. et al., de Leeuw, B. et al., Janz, M. et al., Ladanyi, M. et al., Knight, J.C. et al., et al.

Debiec-Rychter, Sciot, Hagemeijer,

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Disease relevance of OATL2

One monophasic epithelial and two monophasic fibrous synovial sarcomas showed an OATL2-associated breakpoint, while a biphasic tumour revealed a hybridization pattern indicating a breakpoint within the OATL1 region [1].

High impact information on OATL2

Two YAC probes of 300kb and 450kb, containing the OATL2 locus, hybridized to both derivative chromosomes, indicating that these YACs span the translocation breakpoint [2].
To define the interval containing the Xp11.2 break, we first performed FISH on ASPS cases using YAC probes for OATL1 (Xp11.23) and OATL2 (Xp11.21), and cosmid probes from the intervening genomic region [3].
In order to confirm the position of this breakpoint cosmids corresponding to the OATL2 region were isolated [4].
We have previously localized the breakpoint on the X chromosome between the X chromosome marker DXS255 and an ornithine aminotransferase (OAT) pseudogene region designated OATL2 [4].
Both, dual-color FISH using probes specific for OATLI1/OATL2 genes and RT-PCR analysis excluded the presence of t(X;18), typical for synovial sarcoma [5].

Biological context of OATL2

(1992, Mol. Hum. Genet, in press) mapped this same breakpoint in their patient material adjacent to the more proximal OATL2 region on the X chromosome [6].
In contrast we provide evidence that the breakpoint in the remaining two tumours mapped to a second pseudogene region called OATL1 that is telomeric to the OATL2 locus [4].
We speculate that there seems to be a relationship between the occurrence of these breakpoint regions and the histologic phenotype of the tumors, with a predominance of OATL1-related breakpoints in the classical biphasic tumors and of OATL2-related breakpoints in the monophasic fibrous tumors [7].

Analytical, diagnostic and therapeutic context of OATL2

Subsequently by fluorescence in situ hybridization (FISH) we provided evidence that YACs corresponding to the OATL2 locus spanned the break-point [4].

References

Interphase cytogenetic analysis of distinct X-chromosomal translocation breakpoints in synovial sarcoma. Janz, M., De Leeuw, B., Weghuis, D.O., Werner, M., Nolte, M., Geurts Van Kessel, A., Nordheim, A., Hipskind, R.A. J. Pathol. (1995) [Pubmed]
Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization. Knight, J.C., Reeves, B.R., Kearney, L., Monaco, A.P., Lehrach, H., Cooper, C.S. Hum. Mol. Genet. (1992) [Pubmed]
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Ladanyi, M., Lui, M.Y., Antonescu, C.R., Krause-Boehm, A., Meindl, A., Argani, P., Healey, J.H., Ueda, T., Yoshikawa, H., Meloni-Ehrig, A., Sorensen, P.H., Mertens, F., Mandahl, N., van den Berghe, H., Sciot, R., Cin, P.D., Bridge, J. Oncogene (2001) [Pubmed]
The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome. Shipley, J.M., Clark, J., Crew, A.J., Birdsall, S., Rocques, P.J., Gill, S., Chelly, J., Monaco, A.P., Abe, S., Gusterson, B.A. Oncogene (1994) [Pubmed]
Common chromosome aberrations in the proximal type of epithelioid sarcoma. Debiec-Rychter, M., Sciot, R., Hagemeijer, A. Cancer Genet. Cytogenet. (2000) [Pubmed]
Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization. de Leeuw, B., Suijkerbuijk, R.F., Balemans, M., Sinke, R.J., de Jong, B., Molenaar, W.M., Meloni, A.M., Sandberg, A.A., Geraghty, M., Hofker, M. Oncogene (1993) [Pubmed]
Distinct Xp11.2 breakpoint regions in synovial sarcoma revealed by metaphase and interphase FISH: relationship to histologic subtypes. de Leeuw, B., Suijkerbuijk, R.F., Olde Weghuis, D., Meloni, A.M., Stenman, G., Kindblom, L.G., Balemans, M., van den Berg, E., Molenaar, W.M., Sandberg, A.A. Cancer Genet. Cytogenet. (1994) [Pubmed]

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