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The ontogeny of mRNA expression of the genes from the SHFM3 critical region in chicken

The split‐hand/split‐foot malformation (SHFM) is a congenital limb malformation that is characterized by absence or reduction of the central digital rays of the hands and feet. At one of the six well established loci, SHFM3 at chromosome 10q24, tandem duplications have been associated with the SHFM phenotype in humans; the smallest reported includes the genes POLL, BTRC, DPCD, and a portion of FBXW4. SUFU, a gene near the duplicated region, has been shown to be overexpressed in SHFM3 patients. RNA collected from chicken embryo limb buds (E2‐6), limbs (E7‐13), and wings (E14‐15) was analyzed for expression of the homologs of these genes by RT‐PCR. Poll expression was present in limb RNA at stages E2‐E15, although barely detectable. Expression of fbxw4 was detected in stages E3 through E15. Both sufu and dpcd expression was detected at E2, with no expression at E3, and the intensity of the bands varied for E4‐15. These results suggest that these four genes are expressed in the limb during development.