Alternative titles; symbols
HGNC Approved Gene Symbol: HOXB6
Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,595,751-48,604,986 (from NCBI)
To understand better the developmental significance of the murine Hox-2.2 gene (the homolog of human HOXB6, also symbolized HOX2B), Kaur et al. (1992) generated gain-of-function mutants by using the chicken beta-actin promoter to drive ubiquitous expression in transgenic mice. The resulting Hox-2.2 misexpression produced early postnatal lethality as well as craniofacial and axial skeletal perturbations that included open eyes at birth, cleft palate, micrognathia, microtia, skull bone deficiencies, and structural and positional alterations in the vertebral column. Complete or partial absence of the supraoccipital bone and malformations of the exoccipital and the basioccipital bones were observed.
By fluorescence in situ hybridization, Apiou et al. (1996) mapped the HOXB gene cluster, which includes the HOXB6 gene, to chromosome 17q21.3.
Apiou, F., Flagiello, D., Cillo, C., Malfoy, B., Poupon, M.-F., Dutrillaux, B. Fine mapping of human HOX gene clusters. Cytogenet. Cell Genet. 73: 114-115, 1996. [PubMed: 8646877] [Full Text: https://doi.org/10.1159/000134320]
Kaur, S., Singh, G., Stock, J. L., Schreiner, C. M., Kier, A. B., Yager, K. L., Mucenski, M. L., Scott, W. J., Jr., Potter, S. S. Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities. J. Exp. Zool. 264: 323-336, 1992. [PubMed: 1358998] [Full Text: https://doi.org/10.1002/jez.1402640311]