Wicking C, Simms L A, Evans T, Walsh M, Chawengsaksophak K, Beck F, Chenevix-Trench G, Young J, Jass J, Leggett B, Wainwright B
Centre for Molecular and Cellular Biology, University of Queensland, St Lucia, Australia.
Oncogene. 1998 Aug 6;17(5):657-9. doi: 10.1038/sj.onc.1201971.
The Cdx2 gene is one of three murine homologues of the Drosophila homeobox gene caudal. Mice heterozygous for a null mutation in Cdx2 exhibit a variable phenotype including tail abnormalities, stunted growth and a homeotic shift of vertebrae. Most strikingly, however, 90% of heterozygous mice were reported to develop multiple intestinal adenomatous polyps, most notably in the proximal colon (Chawengsaksophak et al., 1997). These observations led us to propose that mutation of CDX2 may be involved in the genesis of some human colorectal tumours. A survey of DNA from 85 colorectal tumours revealed that one with extensive microsatellite instability (RER+ phenotype) has mutations in both alleles of CDX2. Both mutations occur in coding regions which contain repetitive elements and are consistent with those found in RER + tumours.
Cdx2基因是果蝇同源异型盒基因尾端的三个小鼠同源基因之一。Cdx2基因无效突变的杂合子小鼠表现出多种可变表型，包括尾巴异常、生长发育迟缓以及椎骨的同源异型转变。然而，最引人注目的是，据报道90%的杂合子小鼠会发生多发性肠道腺瘤性息肉，最常见于近端结肠（Chawengsaksophak等人，1997年）。这些观察结果促使我们提出，CDX2突变可能与某些人类结直肠癌的发生有关。对85例结直肠癌的DNA检测发现，其中1例具有广泛微卫星不稳定性（RER + 表型）的肿瘤，其CDX2的两个等位基因均发生了突变。这两个突变均发生在含有重复元件的编码区域，并且与RER + 肿瘤中发现的突变一致。
