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Gene Review

HOXA1  -  homeobox A1

Homo sapiens

Synonyms: BSAS, HOX1, HOX1F, Homeobox protein Hox-1F, Homeobox protein Hox-A1
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Disease relevance of HOXA1


Psychiatry related information on HOXA1

  • These findings suggest that the genetic backgrounds of these behavioral conditions may involve genes which also have an important role in the development of skull, because Hoxa1 is a key gene for skull development as well as for brain development and one of the clinical characteristics of Rett syndrome is deceleration in head growth [6].

High impact information on HOXA1

  • Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development [7].
  • This result, combined with the mapping of the HOXA locus to human chromosome 7p15, suggested that one of the HOXA genes might be involved in the t(7;11)(p15;p15) translocation found in some human myeloid leukaemia patients [8].
  • Continued maintenance of this MLL-dependent Hoxa gene expression profile is associated with conditional MLL-associated myeloid immortalization [9].
  • Methylation analysis of HOXA genes in primary squamous cell carcinomas of the lung led to the identification of the HOXA7- and HOXA9-associated CpG islands as frequent methylation targets in stage 1 tumors [10].
  • Comparison with ENCODE-derived data shows that lack of methylation at CpG-rich sequences correlates with presence of the active chromatin mark, histone H3 lysine-4 methylation in the HOXA region [10].

Chemical compound and disease context of HOXA1


Biological context of HOXA1

  • In the ASD families, there was a significant deviation from the HOXA1 genotype ratios expected from Hardy-Weinberg proportions (P = 0.005) [14].
  • Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders [14].
  • The HOXA1 retraction of a trinucleotide repeat was as frequent in both types of cancers and was also found in some normal paired tissues, therefore behaving as a neutral polymorphism [15].
  • Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene [3].
  • BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis [16].

Anatomical context of HOXA1

  • HOXA1 and HEX are homeobox markers preferentially expressed by MII oocytes [17].
  • CONCLUSIONS: The results support a role for HOXA1 in susceptibility to autism, and add to the existing body of evidence implicating early brain stem injury in the etiology of ASDs [14].
  • Mice with null mutations of Hoxa1 or Hoxb1, two genes critical to hindbrain development, have phenotypic features frequently observed in autism, but no naturally occurring variants of either gene have been identified in mammals [14].
  • HOXA1, B2, B4, C5, C10 and D13 genes were expressed in 8, 7, 9, 9, 9 and 11 of 11 cervical carcinoma cell lines, respectively, but not in any of the normal cervical tissues [18].
  • In addition, we found that miR-10a expression in differentiated megakaryocytes is inverse to that of HOXA1, and we showed that HOXA1 is a direct target of miR-10a [19].

Associations of HOXA1 with chemical compounds

  • HOXA1 also abrogated the apoptotic response of mammary carcinoma cells to doxorubicin [3].
  • Here, we further investigate the implications of polyhistidine variants on HOXA1 function [20].
  • Moreover, we demonstrate that all three HOXA1 transcripts are induced by retinoic acid in MCF7 cells [11].
  • HOXA1 contains a string of 10 histidine repeats [21].
  • Our data suggest that the expression of HOXA1, B2, B4, C5, C10 and D13 genes might be involved in the process leading to the transformation of normal cervical cells [18].

Other interactions of HOXA1

  • The HOXA1 gene located in 7p15 was considered to be a good candidate gene for DFNA5 as it harbours mutations leading to developmental defects of the inner ear in mice [22].
  • Mutational studies of 57 sporadic gastrointestinal tumor DNAs revealed the presence of length variations in three of them: (a) BLM; (b) CBL; and (c) HOXA1 [15].
  • Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation [20].
  • These findings suggest that AbdB-type HOXA genes are common targets of t(7;11)(p15;p15) chromosomal translocations and that a single translocation can produce more than one NUP98-HOXA fusion gene, presumably because of altered splicing [23].
  • The HOXA13 gene is part of the HOXA cluster genes and contains 2 exons, encoding a protein of 338 amino acids with a homeodomain [24].

Analytical, diagnostic and therapeutic context of HOXA1

  • Molecular dissection of Meis1 reveals 2 domains required for leukemia induction and a key role for Hoxa gene activation [25].
  • By combining gene targeting strategies with the analysis of regulatory sequences from the Hoxa1 and Hoff1 genes, it has been possible to bypass some of these complications and demonstrate their genetic and functional interactions during the development of the hindbrain and branchial arches [26].
  • A cluster of homeobox-containing genes (HOXA) and a heterogeneous nuclear ribonucleoprotein (hnRPA2B1) have both previously been assigned to chromosome 7p15 by in situ hybridization [27].
  • METHOD: Hoxa1 expression levels were determined by real-time PCR in individual embryos 1 h after exposure on gestational d10, 12, 13, 14, or 15 [28].
  • In affected individuals from both families, sequence analysis of candidate gene HOXA13 did not identify a mutation, and there was no evidence of a microdeletion involving either HOXA13 or the HOXA cluster as a whole [29].


  1. Altered HOX and WNT7A expression in human lung cancer. Calvo, R., West, J., Franklin, W., Erickson, P., Bemis, L., Li, E., Helfrich, B., Bunn, P., Roche, J., Brambilla, E., Rosell, R., Gemmill, R.M., Drabkin, H.A. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  2. The recruitment of SOX/OCT complexes and the differential activity of HOXA1 and HOXB1 modulate the Hoxb1 auto-regulatory enhancer function. Di Rocco, G., Gavalas, A., Popperl, H., Krumlauf, R., Mavilio, F., Zappavigna, V. J. Biol. Chem. (2001) [Pubmed]
  3. Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene. Zhang, X., Zhu, T., Chen, Y., Mertani, H.C., Lee, K.O., Lobie, P.E. J. Biol. Chem. (2003) [Pubmed]
  4. Altered expressions of HOX genes in human cutaneous malignant melanoma. Maeda, K., Hamada, J., Takahashi, Y., Tada, M., Yamamoto, Y., Sugihara, T., Moriuchi, T. Int. J. Cancer (2005) [Pubmed]
  5. Disordered expression of HOX genes in human non-small cell lung cancer. Abe, M., Hamada, J., Takahashi, O., Takahashi, Y., Tada, M., Miyamoto, M., Morikawa, T., Kondo, S., Moriuchi, T. Oncol. Rep. (2006) [Pubmed]
  6. Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations. Ijichi, S., Ijichi, N. Med. Hypotheses (2002) [Pubmed]
  7. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Tischfield, M.A., Bosley, T.M., Salih, M.A., Alorainy, I.A., Sener, E.C., Nester, M.J., Oystreck, D.T., Chan, W.M., Andrews, C., Erickson, R.P., Engle, E.C. Nat. Genet. (2005) [Pubmed]
  8. Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia. Nakamura, T., Largaespada, D.A., Lee, M.P., Johnson, L.A., Ohyashiki, K., Toyama, K., Chen, S.J., Willman, C.L., Chen, I.M., Feinberg, A.P., Jenkins, N.A., Copeland, N.G., Shaughnessy, J.D. Nat. Genet. (1996) [Pubmed]
  9. Transformation of myeloid progenitors by MLL oncoproteins is dependent on Hoxa7 and Hoxa9. Ayton, P.M., Cleary, M.L. Genes Dev. (2003) [Pubmed]
  10. Homeobox gene methylation in lung cancer studied by genome-wide analysis with a microarray-based methylated CpG island recovery assay. Rauch, T., Wang, Z., Zhang, X., Zhong, X., Wu, X., Lau, S.K., Kernstine, K.H., Riggs, A.D., Pfeifer, G.P. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  11. Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells. Chariot, A., Moreau, L., Senterre, G., Sobel, M.E., Castronovo, V. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
  12. Detection of HOXA1 expression in human breast cancer. Chariot, A., Castronovo, V. Biochem. Biophys. Res. Commun. (1996) [Pubmed]
  13. Epigenetic Inactivation of the HOXA Gene Cluster in Breast Cancer. Novak, P., Jensen, T., Oshiro, M.M., Wozniak, R.J., Nouzova, M., Watts, G.S., Klimecki, W.T., Kim, C., Futscher, B.W. Cancer Res. (2006) [Pubmed]
  14. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Ingram, J.L., Stodgell, C.J., Hyman, S.L., Figlewicz, D.A., Weitkamp, L.R., Rodier, P.M. Teratology (2000) [Pubmed]
  15. The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. Calin, G., Herlea, V., Barbanti-Brodano, G., Negrini, M. Cancer Res. (1998) [Pubmed]
  16. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Conciatori, M., Stodgell, C.J., Hyman, S.L., O'Bara, M., Militerni, R., Bravaccio, C., Trillo, S., Montecchi, F., Schneider, C., Melmed, R., Elia, M., Crawford, L., Spence, S.J., Muscarella, L., Guarnieri, V., D'Agruma, L., Quattrone, A., Zelante, L., Rabinowitz, D., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.L., Rodier, P.M., Persico, A.M. Biol. Psychiatry (2004) [Pubmed]
  17. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. Huntriss, J., Hinkins, M., Picton, H.M. Mol. Hum. Reprod. (2006) [Pubmed]
  18. Homeobox gene expression and mutation in cervical carcinoma cells. Hung, Y.C., Ueda, M., Terai, Y., Kumagai, K., Ueki, K., Kanda, K., Yamaguchi, H., Akise, D., Ueki, M. Cancer Sci. (2003) [Pubmed]
  19. MicroRNA fingerprints during human megakaryocytopoiesis. Garzon, R., Pichiorri, F., Palumbo, T., Iuliano, R., Cimmino, A., Aqeilan, R., Volinia, S., Bhatt, D., Alder, H., Marcucci, G., Calin, G.A., Liu, C.G., Bloomfield, C.D., Andreeff, M., Croce, C.M. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  20. Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation. Paraguison, R.C., Higaki, K., Yamamoto, K., Matsumoto, H., Sasaki, T., Kato, N., Nanba, E. J. Neurosci. Res. (2007) [Pubmed]
  21. Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death. Paraguison, R.C., Higaki, K., Sakamoto, Y., Hashimoto, O., Miyake, N., Matsumoto, H., Yamamoto, K., Sasaki, T., Kato, N., Nanba, E. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  22. Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. Van Laer, L., Van Camp, G., van Zuijlen, D., Green, E.D., Verstreken, M., Schatteman, I., Van de Heyning, P., Balemans, W., Coucke, P., Greinwald, J.H., Smith, R.J., Huizing, E., Willems, P. Eur. J. Hum. Genet. (1997) [Pubmed]
  23. Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15). Fujino, T., Suzuki, A., Ito, Y., Ohyashiki, K., Hatano, Y., Miura, I., Nakamura, T. Blood (2002) [Pubmed]
  24. The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9. Taketani, T., Taki, T., Ono, R., Kobayashi, Y., Ida, K., Hayashi, Y. Genes Chromosomes Cancer (2002) [Pubmed]
  25. Molecular dissection of Meis1 reveals 2 domains required for leukemia induction and a key role for Hoxa gene activation. Mamo, A., Krosl, J., Kroon, E., Bijl, J., Thompson, A., Mayotte, N., Girard, S., Bisaillon, R., Beslu, N., Featherstone, M., Sauvageau, G. Blood (2006) [Pubmed]
  26. 1 + 1 = r4 and much much more. Morrison, A.D. Bioessays (1998) [Pubmed]
  27. Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15. Van Laer, L., Van Camp, G., Green, E.D., Huizing, E.H., Willems, P.J. Hum. Genet. (1997) [Pubmed]
  28. Induction of the homeotic gene Hoxa1 through valproic acid's teratogenic mechanism of action. Stodgell, C.J., Ingram, J.L., O'bara, M., Tisdale, B.K., Nau, H., Rodier, P.M. Neurotoxicology and teratology (2006) [Pubmed]
  29. Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family. Tischkowitz, M., Goodman, F., Koliou, M., Webster, D., Edery, P., Jones, A., Wilson, L.C. Clin. Genet. (2004) [Pubmed]
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