Alternative titles; symbols
HGNC Approved Gene Symbol: HOXB5
Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,591,257-48,593,779 (from NCBI)
Hauser et al. (1985) demonstrated that the homeobox cluster on chromosome 17, presumed to contain 2 genes, contains a third homeobox, called Hu-5, separated from Hu-2 by about 15 kb.
Schughart et al. (1988) described the structure and expression of Hox2.2, a murine homeobox-containing gene, which is a member of the cluster of such genes on mouse chromosome 11. The authors compared the expression of homeobox genes Hox2.1 and Hox2.2 in 13.5-day-old mouse embryos.
Classical models of craniofacial development argue that the neural crest is prepatterned or preprogrammed to make specific head structures before its migration from the neural tube. In contrast, recent studies in several vertebrates, including mouse, chick, and zebrafish, have provided evidence for plasticity in patterning neural crest populations. Using tissue transposition and molecular analyses in avian embryos, Trainor et al. (2002) reconciled these findings by demonstrating that classical manipulation experiments, which form the basis of the prepatterning model, involved transplantation of a local signaling center, the isthmic organizer. FGF8 (600483) signaling from the isthmus alters HOXA2 expression and consequently branchial arch patterning, demonstrating that neural crest cells are patterned by environmental signals.
Rabin et al. (1985) pointed to various dyssegmental dysplasias in man (e.g., see 224400) that are candidate homeobox mutations and raised the question of possible significance of the close proximity on chromosome 17 of the gene for the alpha-1 chain of type I collagen.
Levine et al. (1984) demonstrated physical linkage of 2 homeoboxes on chromosome 17. The loci are about 5 kb apart. By dual-laser chromosome sorting and spot-blot analyses, Joyner et al. (1985) assigned 2 human homeobox loci to the long arm of chromosome 17. By in situ hybridization, Rabin et al. (1985) narrowed the assignment of these 2 closely linked human homeoboxes, then called Hu-1 and Hu-2, to 17q11-q22.
Homeology is homology of DNA segments on different chromosomes or homology of different chromosomes in the same genome which might have arisen by chromosome duplication or by tetraploidization. Homeology of chromosomes 11 and 12 has, for example, been suspected because of morphologic similarities as well as gene content (Comings, 1972). There may be a similar segment of homeology of chromosomes 7 and 17 (Ruddle, 1987); HOX2, PPY (167780), and ERBB2 (164870) are on chromosome 17, whereas HOX1 (142950), NPY (162640), and ERBB1 (131550) are on chromosome 7. Using RFLPs, Miki et al. (1987) found that HOX2 is close to PPY (about 5% recombination) and NGFR (162010; about 10% recombination) and far from TK1 (188300) with which linkage could not be demonstrated. Presumably, the order is: HOX2--PPY--NGFR; PPY and NGFR are separated by about 5% recombination. Xu et al. (1988) assigned HOX2 to 17q21-q22 by in situ hybridization. HOX2 and NGFR are in the same large restriction fragment.
As reviewed by Acampora et al. (1989), the homeobox region 2 contains 9 homeobox genes in 180 kb of DNA on chromosome 17. The order, from 5-prime to 3-prime, is HOXB9 (HOX2E), HOXB8 (HOX2D), HOXB7 (HOX2C), HOXB6 (HOX2B), HOXB5 (HOX2A), HOXB4 (HOX2F), HOXB3 (HOX2G), HOXB2 (HOX2H), HOXB1 (HOX2I).
Ruddle (1985) pointed out that the homeobox sequence on chromosome 17 in man should be called HOX2 because it is homologous to the gene first found and so designated in the mouse. The homeobox cluster on chromosome 17 has been called HOX2 or HOXB.
Gene mapping can suggest or eliminate possible allelism of the homeobox loci with loci known to affect development. Munke et al. (1986) showed that the murine Hox2 genes map to the distal part of chromosome 11, near the tail-short (Ts) locus. The most obvious skeletal abnormalities in heterozygous (Ts/+) mice are short and kinky tails; fused, incompletely developed, missing, or extra vertebrae occur with variable frequency (Deol, 1961). Homozygous (Ts/Ts) embryos die around day 5 of gestation, the time of implantation. Munke et al. (1986) raised the possibility that Ts and Hox2 may be allelic. Restriction fragment length polymorphism detected with Hox2 probes might be used to establish the linkage distance between Ts and Hox2, or specific probes could be used to detect DNA deletions or rearrangements in Ts mice. The Ts phenotype was later shown to result from an insertion/deletion mutation on chromosome 11; see 604182.
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Comings, D. E. Evidence for ancient tetraploidy and conservation of linkage groups in mammalian chromosomes. Nature 238: 455-467, 1972. [PubMed: 4561854] [Full Text: https://doi.org/10.1038/238455a0]
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Hart, C. P., Awgulewitsch, A., Fainsod, A., McGinnis, W., Ruddle, F. H. Homeo box gene complex on mouse chromosome 11: molecular cloning, expression in embryogenesis, and homology to a human homeo box locus. Cell 43: 9-18, 1985. [PubMed: 3000607] [Full Text: https://doi.org/10.1016/0092-8674(85)90007-8]
Hauser, C. A., Joyner, A. L., Klein, R. D., Learned, T. K., Martin, G. R., Tjian, R. Expression of homologous homeo-box-containing genes in differentiated human teratocarcinoma cells and mouse embryos. Cell 43: 19-28, 1985. [PubMed: 4075393] [Full Text: https://doi.org/10.1016/0092-8674(85)90008-x]
Joyner, A. L., Lebo, R. V., Kan, Y. W., Tjian, R., Cox, D. R., Martin, G. R. Comparative chromosome mapping of a conserved homoeo box region in mouse and human. Nature 314: 173-175, 1985. [PubMed: 3919316] [Full Text: https://doi.org/10.1038/314173a0]
Levine, M., Rubin, G. M., Tjian, R. Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila. Cell 38: 667-673, 1984. [PubMed: 6091895] [Full Text: https://doi.org/10.1016/0092-8674(84)90261-7]
Manley, J. L., Levine, M. S. The homeo box and mammalian development. Cell 43: 1-2, 1985. [PubMed: 3907850] [Full Text: https://doi.org/10.1016/0092-8674(85)90002-9]
Meijlink, F., de Laaf, R., Verrijzer, P., Destree, O., Kroezen, V., Hilkens, J., Deschamps, J. A mouse homeobox containing gene on chromosome 11: sequence and tissue-specific expression. Nucleic Acids Res. 15: 6773-6786, 1987. [PubMed: 2889183] [Full Text: https://doi.org/10.1093/nar/15.17.6773]
Miki, T., Murphy, P. D., Pletcher, B. A., Kidd, J. R., Ferguson-Smith, A. C., Ruddle, F. H., Kidd, K. K. HOX2 maps to 17q near PPY and NGFR. (Abstract) Cytogenet. Cell Genet. 46: 662 only, 1987.
Munke, M., Cox, D. R., Jackson, I. J., Hogan, B. L. M., Francke, U. The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. Cytogenet. Cell Genet. 42: 236-240, 1986. [PubMed: 2875852] [Full Text: https://doi.org/10.1159/000132284]
Rabin, M., Ferguson-Smith, A., Hart, C. P., Ruddle, F. H. Cognate homeo-box loci mapped on homologous human and mouse chromosomes. Proc. Nat. Acad. Sci. 83: 9104-9108, 1986. [PubMed: 2878432] [Full Text: https://doi.org/10.1073/pnas.83.23.9104]
Rabin, M., Hart, C. P., Ferguson-Smith, A., McGinnis, W., Levine, M., Ruddle, F. H. Two homoeo box loci mapped in evolutionarily related mouse and human chromosomes. Nature 314: 175-178, 1985. [PubMed: 4038785] [Full Text: https://doi.org/10.1038/314175a0]
Ruddle, F. H. Personal Communication. New Haven, Conn. 1987.
Ruddle, F. H. Personal Communication. New Haven, Conn. 1985.
Schughart, K., Utset, M. F., Awgulewitsch, A., Ruddle, F. H. Structure and expression of Hox-2.2, a murine homeobox-containing gene. Proc. Nat. Acad. Sci. 85: 5582-5586, 1988. [PubMed: 2899893] [Full Text: https://doi.org/10.1073/pnas.85.15.5582]
Trainor, P. A., Ariza-McNaughton, L., Krumlauf, R. Role of the isthmus and FGFs in resolving the paradox of neural crest plasticity and prepatterning. Science 295: 1288-1291, 2002. [PubMed: 11847340] [Full Text: https://doi.org/10.1126/science.1064540]
Xu, W., Gorman, P. A., Rider, S. H., Hedge, P. J., Moore, G., Prichard, C., Sheer, D., Solomon, E. Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer. Proc. Nat. Acad. Sci. 85: 8563-8567, 1988. [PubMed: 3186746] [Full Text: https://doi.org/10.1073/pnas.85.22.8563]