Genomic structure and complete sequence of the human FGFR4 gene.

We report the genomic structure and entire sequence of the fibroblast growth factor receptor 4 (FGFR4) gene. The gene spans approximately 11.3 kb. It is composed of 18 exons ranging in size from 71 bp to 600 bp. Exon-intron boundaries follow the GT/AG rule. Exon 1 is untranslated and preceded by structural elements characteristic of a TATA-free promoter. Although there are promoter motifs in intron 4 as well, there is currently no evidence of alternative transcription of FGFR4. Comparison of exon-intron boundaries of FGFR4 with those of FGFR1 and 3 reveals a remarkable degree of homology. With the exception of four, exon boundaries are at identical positions in all three receptor genes. Short tandem repeat polymorphisms (STRPs) were identified in introns 2 and 16 of FGFR4. The STRPs together with the sequence information will facilitate the rapid analysis of FGFR4 in those human disorders in which this gene can be considered a candidate.