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MNX1  -  motor neuron and pancreas homeobox 1

Homo sapiens

Synonyms: HB9, HLXB9, HOXHB9, Homeobox protein HB9, Motor neuron and pancreas homeobox protein 1, ...
 
 
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Disease relevance of HLXB9

  • Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13) [1].
  • Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. [2].
  • FISH analysis demonstrated haploinsufficiency of HLXB9, a gene identified in the triad of a presacral mass (teratoma or anterior meningocele), sacral agenesis, and anorectal malformation, which constitutes the Currarino syndrome [3].
  • Together with the finding that mutation of the pancreatic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription factors in the pathogenesis of birth defects associated with diabetes [4].
  • We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene [5].
 

Psychiatry related information on HLXB9

 

High impact information on HLXB9

 

Biological context of HLXB9

  • However, inhibition of certain signal transduction pathways revealed that the phosphatidylinositol 3 kinase (PI3K) pathway contributes to HLXB9 expression [10].
  • However, reverse transcription-PCR for HLXB9-ETV6 demonstrated alternative splicing; the two major bands corresponded to fusion of exon 1 of HLXB9 to exons 2 and 3, respectively, of ETV6 [1].
  • By using the sequences made public recently by the Human Genome Project, two candidate genes in 7q36 were identified: the homeobox gene HLXB9 and c7orf3, a gene with unknown function [1].
  • The FISH studies have shown a cluster of breakpoints within a cosmid contig proximal to the HLXB9 gene [11].
  • Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively [2].
 

Anatomical context of HLXB9

  • Only one EHG-family gene was expressed, HLXB9, in cell line GDM-1 (AML-M4) [12].
  • BACKGROUND: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9 [13].
  • A developmental field defect involving the intraembryonic mesoderm suggests a possible etiologic role for homeobox genes, such as HLXB9 with mutations, resulting in anorectal and spine abnormalities, or retinoic acid receptors [14].
  • However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the HLXB9 gene can predict neither the severity nor the long-term prognosis of the disease [5].
  • Immunolocalisation studies revealed the expression of neuronal specific marker, beta omega-tubulin and motor neuron specific marker, HB9/HLXB9 in all the three hESC clones after 45 days of differentiation [15].
 

Associations of HLXB9 with chemical compounds

  • Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome [13].
  • Based on studies with actinomycin D, the HB24 and HB9 transcripts in human CD34-positive cells have short half-lives, estimated to be 30 to 45 minutes [16].
  • The predicted HB9 protein has a molecular mass of 41 kilodaltons and is enriched for alanine, glycine, and leucine [17].
  • Monoclonal antibodies VIB-E3, IB5 and HB9 to the leucocyte/epithelial antigen CD24 resemble BA-1 in recognizing sialic acid-dependent epitope(s). Evidence that VIB-E3 recognizes NeuAc alpha 2-6GalNAc and NeuAc alpha 2-6Gal sequences [18].
  • This article summarizes discussions that took place following Paul Toro's presidential address for the Society for Community Research and Action (SCRA) [19].
 

Regulatory relationships of HLXB9

  • Treatment of CD34-enriched cells with recombinant interleukin-3 (IL-3) and granulocyte macrophage-colony-stimulating factor for 24 hours increased expression of HB24 threefold and HB9 fourfold [16].
 

Other interactions of HLXB9

  • A fusion transcript between HLXB9 and ETV6 in AML with t(7;12) is occasionally found [20].
  • Downstream analysis of PI3K revealed that E2F3 may mediate activation of HLXB9 [10].
  • Instead, we observed expression of a closely related gene, HLXB9, albeit restricted to HL cells coexpressing IL6 [10].
  • Ectopic expression of IPF1, HLXB9, and FOXA2 with or without islet coculture or islet-conditioned medium results in insulin gene expression [21].
  • Activation of HLXB9 by juxtaposition with MYB via formation of t(6;7)(q23;q36) in an AML-M4 cell line (GDM-1) [12].
 

Analytical, diagnostic and therapeutic context of HLXB9

References

  1. Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13). Beverloo, H.B., Panagopoulos, I., Isaksson, M., van Wering, E., van Drunen, E., de Klein, A., Johansson, B., Slater, R. Cancer Res. (2001) [Pubmed]
  2. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Nowaczyk, M.J., Huggins, M.J., Tomkins, D.J., Rossi, E., Ramsay, J.A., Woulfe, J., Scherer, S.W., Belloni, E. Clin. Genet. (2000) [Pubmed]
  3. Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p. Le Caignec, C., Winer, N., Boceno, M., Delnatte, C., Podevin, G., Liet, J.M., Quere, M.P., Joubert, M., Rival, J.M. Prenat. Diagn. (2003) [Pubmed]
  4. Caudal dysgenesis in Islet-1 transgenic mice. Muller, Y.L., Yueh, Y.G., Yaworsky, P.J., Salbaum, J.M., Kappen, C. FASEB J. (2003) [Pubmed]
  5. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. Crétolle, C., Sarnacki, S., Amiel, J., Geneviève, D., Encha-Razavi, F., Zrelli, S., Zérah, M., Nihoul Fékété, C., Lyonnet, S. Am. J. Med. Genet. A (2007) [Pubmed]
  6. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Hagan, D.M., Ross, A.J., Strachan, T., Lynch, S.A., Ruiz-Perez, V., Wang, Y.M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Nixon, P., Papapetrou, C., Winter, R.M., Edwards, Y., Morrison, K., Barrow, M., Cordier-Alex, M.P., Correia, P., Galvin-Parton, P.A., Gaskill, S., Gaskin, K.J., Garcia-Minaur, S., Gereige, R., Hayward, R., Homfray, T. Am. J. Hum. Genet. (2000) [Pubmed]
  7. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Ross, A.J., Ruiz-Perez, V., Wang, Y., Hagan, D.M., Scherer, S., Lynch, S.A., Lindsay, S., Custard, E., Belloni, E., Wilson, D.I., Wadey, R., Goodman, F., Orstavik, K.H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T. Nat. Genet. (1998) [Pubmed]
  8. Specification of motoneurons from human embryonic stem cells. Li, X.J., Du, Z.W., Zarnowska, E.D., Pankratz, M., Hansen, L.O., Pearce, R.A., Zhang, S.C. Nat. Biotechnol. (2005) [Pubmed]
  9. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Belloni, E., Martucciello, G., Verderio, D., Ponti, E., Seri, M., Jasonni, V., Torre, M., Ferrari, M., Tsui, L.C., Scherer, S.W. Am. J. Hum. Genet. (2000) [Pubmed]
  10. HLXB9 activates IL6 in Hodgkin lymphoma cell lines and is regulated by PI3K signalling involving E2F3. Nagel, S., Scherr, M., Quentmeier, H., Kaufmann, M., Zaborski, M., Drexler, H.G., MacLeod, R.A. Leukemia (2005) [Pubmed]
  11. Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia. Tosi, S., Hughes, J., Scherer, S.W., Nakabayashi, K., Harbott, J., Haas, O.A., Cazzaniga, G., Biondi, A., Kempski, H., Kearney, L. Genes Chromosomes Cancer (2003) [Pubmed]
  12. Activation of HLXB9 by juxtaposition with MYB via formation of t(6;7)(q23;q36) in an AML-M4 cell line (GDM-1). Nagel, S., Kaufmann, M., Scherr, M., Drexler, H.G., MacLeod, R.A. Genes Chromosomes Cancer (2005) [Pubmed]
  13. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Garcia-Barceló, M., So, M.T., Lau, D.K., Leon, T.Y., Yuan, Z.W., Cai, W.S., Lui, V.C., Fu, M., Herbrick, J.A., Gutter, E., Proud, V., Li, L., Pierre-Louis, J., Aleck, K., van Heurn, E., Belloni, E., Scherer, S.W., Tam, P.K. Clin. Chem. (2006) [Pubmed]
  14. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases. Keppler-Noreuil, K.M. Am. J. Med. Genet. (2001) [Pubmed]
  15. Derivation of Motor Neurons from three Clonal Human Embryonic Stem Cell Lines. Lim, U.M., Sidhu, K.S., Tuch, B.E. Current neurovascular research (2006) [Pubmed]
  16. Selective expression of two homeobox genes in CD34-positive cells from human bone marrow. Deguchi, Y., Kehrl, J.H. Blood (1991) [Pubmed]
  17. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. Harrison, K.A., Druey, K.M., Deguchi, Y., Tuscano, J.M., Kehrl, J.H. J. Biol. Chem. (1994) [Pubmed]
  18. Monoclonal antibodies VIB-E3, IB5 and HB9 to the leucocyte/epithelial antigen CD24 resemble BA-1 in recognizing sialic acid-dependent epitope(s). Evidence that VIB-E3 recognizes NeuAc alpha 2-6GalNAc and NeuAc alpha 2-6Gal sequences. Larkin, M., Knapp, W., Stoll, M.S., Mehmet, H., Feizi, T. Clin. Exp. Immunol. (1991) [Pubmed]
  19. The "big tent" of community psychology: reactions to Paul Toro's 2004 presidential address. Jozefowicz-Simbeni, D.M., Israel, N., Braciszewski, J., Hobden, K. American journal of community psychology. (2005) [Pubmed]
  20. High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9. von Bergh, A.R., van Drunen, E., van Wering, E.R., van Zutven, L.J., Hainmann, I., Lönnerholm, G., Meijerink, J.P., Pieters, R., Beverloo, H.B. Genes Chromosomes Cancer (2006) [Pubmed]
  21. Human bone marrow mesenchymal stem cells can express insulin and key transcription factors of the endocrine pancreas developmental pathway upon genetic and/or microenvironmental manipulation in vitro. Moriscot, C., de Fraipont, F., Richard, M.J., Marchand, M., Savatier, P., Bosco, D., Favrot, M., Benhamou, P.Y. Stem Cells (2005) [Pubmed]
  22. Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. Horn, D., Tönnies, H., Neitzel, H., Wahl, D., Hinkel, G.K., von Moers, A., Bartsch, O. Am. J. Med. Genet. A (2004) [Pubmed]
  23. Omphalocoele-exstrophy-imperforate anus-spinal defects complex in dizygotic twins. Noack, F., Sayk, F., Gembruch, U. Fetal. Diagn. Ther. (2005) [Pubmed]
  24. Preimplantation diagnosis for homeobox gene HLXB9 mutation causing Currarino syndrome. Verlinsky, Y., Rechitsky, S., Schoolcraft, W., Kuliev, A. Am. J. Med. Genet. A (2005) [Pubmed]
  25. Expression and localization of homeodomain proteins DLX4, HB9 and HB24 in malignant and benign human colorectal tissues. Hollington, P., Neufing, P., Kalionis, B., Waring, P., Bentel, J., Wattchow, D., Tilley, W.D. Anticancer Res. (2004) [Pubmed]
 
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