Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia.

Homeobox-containing genes play an important role in both body axis determination and specific organ development. They have increasingly been found to be mutated in human birth defect disorders. Sequences of two bagpipe-related genes in the mouse, Nkx-3.1 and Nkx-3.2, have already been reported. Nkx-3.1 was isolated from the prostate, and its human homolog NKX-3.1 has also been described. Mouse Nkx-3.2, or bapx1, has also been isolated, and its expression in the visceral mesoderm and embryonic skeleton in the mouse has been described. We report here the human BAPX1 sequence and its localization to chromosome region 4p16.1 and suggest BAPX1 as a candidate for disorders of skeletal development that might map to 4p16.1.