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Gene Review

HOXD1  -  homeobox D1

Homo sapiens

Synonyms: HOX4, HOX4G, Homeobox protein Hox-D1, Homeobox protein Hox-GG, Hox-4.7
 
 
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Disease relevance of HOXD1

  • Adult synovial tissues from 5 HTLV-I tax transgenic mice with chronic polyarthritis and 4 nontransgenic (normal) mice were also examined for expression of these HOXD genes [1].
  • We have found that many CpG islands at the HOXA and HOXD loci were methylated in human lung adenocarcinoma [2].
  • DNA from 459 spina bifida (SB) affected individuals and their parents was tested for linkage and association utilizing polymorphic markers from within or very close to the HOXA, HOXB, HOXC, and HOXD genes as well as from within the genes/gene regions of eight mouse models that exhibit NTDs [3].
 

High impact information on HOXD1

  • This model can explain gene expression changes in the Hoxd gene cluster and the beta-globin locus [4].
  • HOXD13, the most 5' gene of the HOXD cluster, encodes a homeodomain transcription factor with important functions in limb patterning and growth [5].
  • They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole [6].
  • We propose that the patients' phenotypes are due in part to haploinsufficiency for HOXD-cluster genes [7].
  • These cases represent the first reported examples of deficiencies for an entire Hox cluster in vertebrates and suggest that the diploid dose of human HOXD genes is crucial for normal growth and patterning of the limbs along the anterior-posterior axis [7].
 

Biological context of HOXD1

 

Anatomical context of HOXD1

  • RESULTS: Expression of HOXD9 was detected in embryonic joints, preferentially on articular cartilage, only during the early stages of joint development (up to E15), whereas other HOXD genes were expressed throughout the embryonic and neonatal stages [1].
  • Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster [7].
  • In nonpolarized recombinant limbs the 5' Hoxd genes were sequentially and uniformly expressed in the subridge mesoderm across the anteroposterior axis [13].
  • We propose that the expression of the Hoxd genes is an intrinsic property of rapidly growing limb cells and that their expression is related to the limb bud proximodistal outgrowth [13].
  • HOXC and HOXD gene expression in human endometrium: lack of redundancy with HOXA paralogs [14].
 

Associations of HOXD1 with chemical compounds

  • The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes [15].
 

Other interactions of HOXD1

 

Analytical, diagnostic and therapeutic context of HOXD1

  • Determination of the human HOX D1 gene structure permits the use of PCR based analysis of this gene for the assessment of mutations, for diseases that link to the HOXD cluster (such as Duanes Retraction Syndrome (DRS)), or polymorphisms associated with human variation [17].

References

  1. Expression of murine HOXD9 during embryonic joint patterning and in human T lymphotropic virus type I tax transgenic mice with arthropathy resembling rheumatoid arthritis. Khoa, N.D., Hasunuma, T., Kobata, T., Kato, T., Nishioka, K. Arthritis Rheum. (1999) [Pubmed]
  2. HOX gene clusters are hotspots of de novo methylation in CpG islands of human lung adenocarcinomas. Shiraishi, M., Sekiguchi, A., Oates, A.J., Terry, M.J., Miyamoto, Y. Oncogene (2002) [Pubmed]
  3. Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects. Volcik, K.A., Blanton, S.H., Kruzel, M.C., Townsend, I.T., Tyerman, G.H., Mier, R.J., Northrup, H. Am. J. Med. Genet. (2002) [Pubmed]
  4. Chromatin looping and the probability of transcription. Li, Q., Barkess, G., Qian, H. Trends Genet. (2006) [Pubmed]
  5. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Johnson, D., Kan, S.H., Oldridge, M., Trembath, R.C., Roche, P., Esnouf, R.M., Giele, H., Wilkie, A.O. Am. J. Hum. Genet. (2003) [Pubmed]
  6. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Goodman, F.R., Majewski, F., Collins, A.L., Scambler, P.J. Am. J. Hum. Genet. (2002) [Pubmed]
  7. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Del Campo, M., Jones, M.C., Veraksa, A.N., Curry, C.J., Jones, K.L., Mascarello, J.T., Ali-Kahn-Catts, Z., Drumheller, T., McGinnis, W. Am. J. Hum. Genet. (1999) [Pubmed]
  8. Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis. Pitera, J.E., Milla, P.J., Scambler, P., Adjaye, J. Mech. Dev. (2001) [Pubmed]
  9. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Caronia, G., Goodman, F.R., McKeown, C.M., Scambler, P.J., Zappavigna, V. Development (2003) [Pubmed]
  10. The HOXD11 gene is fused to the NUP98 gene in acute myeloid leukemia with t(2;11)(q31;p15). Taketani, T., Taki, T., Shibuya, N., Ito, E., Kitazawa, J., Terui, K., Hayashi, Y. Cancer Res. (2002) [Pubmed]
  11. Order of six loci at 2q24-q31 and orientation of the HOXD locus. Rossi, E., Faiella, A., Zeviani, M., Labeit, S., Floridia, G., Brunelli, S., Cammarata, M., Boncinelli, E., Zuffardi, O. Genomics (1994) [Pubmed]
  12. Cooperating morphogens control hoxd gene expression in the developing vertebrate limb. Papageorgiou, S. J. Theor. Biol. (1998) [Pubmed]
  13. Recombinant limbs as a model to study homeobox gene regulation during limb development. Ros, M.A., Lyons, G.E., Mackem, S., Fallon, J.F. Dev. Biol. (1994) [Pubmed]
  14. HOXC and HOXD gene expression in human endometrium: lack of redundancy with HOXA paralogs. Akbas, G.E., Taylor, H.S. Biol. Reprod. (2004) [Pubmed]
  15. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. Bruneau, S., Johnson, K.R., Yamamoto, M., Kuroiwa, A., Duboule, D. Dev. Biol. (2001) [Pubmed]
  16. An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Kan, S.H., Johnson, D., Giele, H., Wilkie, A.O. Am. J. Med. Genet. A (2003) [Pubmed]
  17. Isolation and characterization of the human homeobox gene HOX D1. Appukuttan, B., Sood, R., Ott, S., Makalowska, I., Patel, R.J., Wang, X., Robbins, C.M., Brownstein, M.J., Stout, J.T. Mol. Biol. Rep. (2000) [Pubmed]
 
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