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Gene Review:

SLC22A18AS - solute carrier family 22 (organic cation...

Homo sapiens

Synonyms: BWR1B, BWSCR1B, Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein, ORCTL2S, Organic cation transporter-like protein 2 antisense protein, ...

Cooper, P.R. et al., Bajaj, V. et al., Gallagher, E. et al., Higashimoto, K. et al., Schwienbacher, C. et al.

Bajaj, Markandaya, Krishna, Kumar,

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High impact information on SLC22A18AS

The three additional genes were designated BWR1A, BWR1B, and BWR1C [1].
Although SSCP analysis of 62 WT samples and 10 BWS patients did not result in the identification of any mutations in ORCTL2 or ORCTL2S, it will be important to examine their expression pattern in tumors and BWS patients, since epigenetic alteration at these loci may play a role in the etiology of these diseases [2].
Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene [3].
Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5 [4].
DNA sequence analysis showed that the heterozygosity is caused by a G>A change at nucleotide position 473 (c.473G>A) in exon 4 of the SLC22A1LS gene [4].

Analytical, diagnostic and therapeutic context of SLC22A18AS

Random hexamer-primed cDNA synthesis, SLC22A18/SLC22A18AS-specific PCR, and imprinting evaluation by commercial sequencing demonstrated that SLC22A18AS displays a nonimprinted profile in reduction mastectomies (n = 6) [5].

References

Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. Schwienbacher, C., Sabbioni, S., Campi, M., Veronese, A., Bernardi, G., Menegatti, A., Hatada, I., Mukai, T., Ohashi, H., Barbanti-Brodano, G., Croce, C.M., Negrini, M. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. Cooper, P.R., Smilinich, N.J., Day, C.D., Nowak, N.J., Reid, L.H., Pearsall, R.S., Reece, M., Prawitt, D., Landers, J., Housman, D.E., Winterpacht, A., Zabel, B.U., Pelletier, J., Weissman, B.E., Shows, T.B., Higgins, M.J. Genomics (1998) [Pubmed]
Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene. Higashimoto, K., Soejima, H., Katsuki, T., Mukai, T. J. Hum. Genet. (2000) [Pubmed]
Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5. Bajaj, V., Markandaya, M., Krishna, L., Kumar, A. BMC Genet. (2004) [Pubmed]
Gain of imprinting of SLC22A18 sense and antisense transcripts in human breast cancer. Gallagher, E., Mc Goldrick, A., Chung, W.Y., Mc Cormack, O., Harrison, M., Kerin, M., Dervan, P.A., Mc Cann, A. Genomics (2006) [Pubmed]

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