The caudal-type homeobox gene Cdx2 encodes a transcription factor whic
h is expressed in the intestine and is thought to play an important ro
le in the proliferation and differentiation of intestinal epithelial c
ells. Mice heterozygous for null mutations in the caudal-type homeobox
gene Cdx2 show multiple adenomatous polyps in the proximal colon in a
ddition to skeletal problems associated with abnormal segmentation. In
human colorectal cancer the expression of bath CDX2 and carbonic anhy
drase 1, a gene regulated by CDX2, is reduced or absent. It is possibl
e that mutation of CDX2 is a primary event in the origin of some color
ectal cancers. We have cloned human CDX2 cDNA and report here the nucl
eotide and protein sequences and assignment of the human gene to chrom
osome 13q12-13.