| First Author | De Chen J | Year | 1990 |
| Journal | Am J Hum Genet | Volume | 47 |
| Pages | A102 (Abstr.) | Mgi Jnum | J:14951 |
| Mgi Id | MGI:63101 | Citation | De Chen J, et al. (1990) Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. Am J Hum Genet 47:A102 (Abstr.) |
| abstractText | Full text of Abstract: A102. Differentiation and Development. (0396) 1.213. Chromosomal sublocalization and cellular expression of the retinal homeobox gene HOX10. J. De Chen, L. Ploder, L. Collins, P. Thorner, V. Kalnins, A. Duncan, B. Taylor, and R.R. McInnes. Hospital for Sick Children and Univ. of Toronto, Toronto, QueenÕs University, Kingston, Ontario, Canada, and The Jackson Laboratory, Bar Harbor, Maine, USA. HOX10 encodes a developmentally regulated homeobox gene originally identified on the basis of its relatively-abundant and retina-specific expression (De Chen et al, Amer. J. Hum. Genet. 45:A111, 1989, where HOX10 was termed RET1, and shown to map to chr. 14). As an initial step in evaluating the role of HOX10 as a candidate gene in human and murine retinopathies, we have determined its precise chromosomal location in both species. To sublocalized HOX10 on human chromosome 14, a tritium-labelled HOX10 probe was hybridized at high stringency to human metaphase chromosomes, and the distribution of silver grains analyzed over well G-banded metaphases at the 500-550 level of resolution. A clear peak of hybridization was observed at 14q24.3, placing HOX10 close to FOS, and proximal to alpha1-antitrypsin. In addition, minor but significant hybridization was also seen at 14q21, 9q33-34, and 11q22-23. Together with preliminary low-stringency Southern blotting and cDNA cloning data, these findings suggest the presence of genes homologous to HOX10 elsewhere in the human genome, on chromosomes where no homeobox genes have been previously mapped. The murine homolog (Hox-10) was mapped to the distal part of mouse chromosome 12 by linkage analysis. TaqI-digested DNA from the testcross CAST/Ei x MEV crossed to strain BXD-32 or SWR/J was scored for a 1.7 kb band seen in CAST/Ei. Hox-10 is strongly linked to 2 markers on distal chromosome 12, alpha-1 antitrypsin (Aat) and an HMG CoA synthetase (Hmgs) variant, giving the apparent gene order and distances (cM) of Hmgs - 19.5 +/- 4.4 - Hox-10 - 12.2 +/- 3.5 - Aat, thus placing Hox-10 close to Fos. These data document further the conserved syntenic regions between distal human chr. 14q and mouse chr. 12, and provide a chromosomal focus for HOX10 linkage analysis in retinopathies. Northern blot analysis indicates that HOX10 expression may be retina-specific in the adult. In situ immunofluorescence is being used to determine which retinal cells express this protein, using an affinity-purified antiserum raised to a trpE fusion protein. Initial results show that staining is confined to the nuclei. and that all 7 retinal cell types appear to express the protein. We speculate either that HOX10 plays a general role in the differentiation of the retina, or alternatively, that the polyclonal antiserum is detecting related homeoproteins expressed in different retinal cell types. |
