Cloning and chromosome assignment of the human CDX2 gene.

The caudal-type homeobox gene Cdx2 encodes a transcription factor which is expressed in the intestine and is thought to play an important role in the proliferation and differentiation of intestinal epithelial cells. Mice heterozygous for null mutations in the caudal-type homeobox gene Cdx2 show multiple adenomatous polyps in the proximal colon in addition to skeletal problems associated with abnormal segmentation. In human colorectal cancer the expression of both CDX2 and carbonic anhydrase 1, a gene regulated by CDX2, is reduced or absent. It is possible that mutation of CDX2 is a primary event in the origin of some colorectal cancers. We have cloned human CDX2 cDNA and report here the nucleotide and protein sequences and assignment of the human gene to chromosome 13q12-13.