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Gene Review

XG  -  Xg blood group

Homo sapiens

Synonyms: Glycoprotein Xg, PBDX, Protein PBDX
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Disease relevance of XG


Psychiatry related information on XG


High impact information on XG

  • Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp [7].
  • The Xg blood-group locus and the G6PD locus were determined in these six individuals [4].
  • RT-PCR analysis of the transcripts revealed the existence of an XG mRNA in each cell line, suggesting that the tissue-specific regulation of cell surface XG expression occurs either at a quantitative transcriptional level or is a posttranscriptional event [8].
  • A study of the coregulation and tissue specificity of XG and MIC2 gene expression in eukaryotic cells [8].
  • No evidence of association or complex formation between XG and CD99 proteins could be proven, either on transfected RAG cells or on human erythrocytes [8].

Biological context of XG

  • The three exons at the 5' end of PBDX are situated in the pseudoautosomal region immediately downstream of MIC2, whereas the other seven exons are in the X-specific region [7].
  • An expressed pseudogene of XG, XGPY, has been mapped to interval Yq11.21 [9].
  • Sequence comparison suggests that XGPY originated from XG by a gene duplication event in the primate lineage [9].
  • The heterogeneity and low abundance of transcripts as well as the lack of maintenance of the XG open reading frame in all but one transcript argue against a specific Y-chromosome gene product [9].
  • The XG blood group gene spans PABX1, the pseudoautosomal boundary on the X chromosome [9].

Anatomical context of XG

  • The percentage of histiocytes with XG in a lesion has no relation to the age of the patient or the organ from which it was obtained, except for skin, where they were quite numerous [1].
  • Although no explanation has been established for the presence of testes in the apparent absence of the Y chromosome, studies of the X-linked Xg blood group in XX males demonstrate a high frequency of unusual inheritance patterns [10].

Other interactions of XG

  • These findings suggest that the phenotypic relationship between XG and CD99 is mostly regulated at the transcriptional level, but they do not formally exclude some posttranscriptional effect [8].
  • Transcripts detected include antisense SRY sequences and XG approximately RPS4Y hybrid transcripts [9].
  • Contrary to what is expected under the above hypothesis, our sequence data from humans and great apes reveal that the PAR1 introns of XG have actually evolved slightly slower than X-specific introns [11].
  • This order was 2.4 times more likely than with (STS,GMGX9) and dic56 reversed and is supported by our findings in a male with steroid sulfatase deficiency due to a deletion of Xp22.3 which encompasses the XG locus [12].

Analytical, diagnostic and therapeutic context of XG

  • By Northern blot analysis, XG transcripts were detected in erythroid tissues and several nonerythroid tissues [8].
  • As a preliminary study of this phenomenon, human XG and CD99 recombinant proteins were expressed in murine RAG cells and analyzed by flow cytometry [8].


  1. Significance of X granules in histiocytosis X: an ultrastructural study. Hamoudi, A.B., Little, M., Newton, W.A., Heyn, R., Lahey, M.E., Ladisch, S., Leikin, S., Neerhout, R., Shore, N., Smith, B. Pediatric pathology / affiliated with the International Paediatric Pathology Association. (1985) [Pubmed]
  2. Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome. Purtilo, D.T., Szymanski, I., Bhawan, J., Yang, J.P., Hutt, L.M., Boto, W., DeNicola, L., Maier, R., Thorley-Lawson, D. Lancet (1978) [Pubmed]
  3. New data do not suggest linkage between the Xg blood group and bipolar illness. Leckman, J.F., Gershon, E.S., McGinniss, M.H., Targum, S.D., Dibble, E.D. Arch. Gen. Psychiatry (1979) [Pubmed]
  4. Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome. Hittner, H.M., Carroll, A.J., Prchal, J.T. Am. J. Hum. Genet. (1982) [Pubmed]
  5. A family with apparently sex-linked optic atrophy. Went, L.N., De Vries-De Mol, E.C., Völker-Dieben, H.J. J. Med. Genet. (1975) [Pubmed]
  6. Linkage studies in affective disorders: the Xg blood group and manic-depressive illness. Mendlewicz, J., Fleiss, J.L., Fieve, R.R. Proceedings of the annual meeting of the American Psychopathological Association. (1975) [Pubmed]
  7. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Ellis, N.A., Ye, T.Z., Patton, S., German, J., Goodfellow, P.N., Weller, P. Nat. Genet. (1994) [Pubmed]
  8. A study of the coregulation and tissue specificity of XG and MIC2 gene expression in eukaryotic cells. Fouchet, C., Gane, P., Huet, M., Fellous, M., Rouger, P., Banting, G., Cartron, J.P., Lopez, C. Blood (2000) [Pubmed]
  9. The human Y chromosome homologue of XG: transcription of a naturally truncated gene. Weller, P.A., Critcher, R., Goodfellow, P.N., German, J., Ellis, N.A. Hum. Mol. Genet. (1995) [Pubmed]
  10. Ambiguous genitalia in XX male children: report of two infants. Roe, T.F., Alfi, O.S. Pediatrics (1977) [Pubmed]
  11. Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes. Yi, S., Summers, T.J., Pearson, N.M., Li, W.H. Genome Res. (2004) [Pubmed]
  12. Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers. Yates, J.R., Goudie, D.R., Gillard, E.F., Aitken, D.A., Affara, N.A., Clayton, J.F., Tippett, P.A., Ferguson-Smith, M.A. Genomics (1987) [Pubmed]
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