Genomic Organization of the Human and MousestauGenes

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Abstract
Mammalian Staufen is a double-stranded RNA-binding protein potentially involved in mRNA transport and localization. Recently, we reported that the human gene is located on chromosome 20, region q13.1. We now report the genomic organization of both the human and mouse stau genes. Amplification of genomic DNA and sequencing of the resulting PCR products indicated that the human and mouse genes are fragmented into 15 and 12 exons, distributed over at least 65 and 17 kb of genomic DNA, respectively. The three additional exons found in the human gene are subjected to differential splicing, generating four different transcripts. Corresponding exons have not been found in mouse transcripts. Apart from those three exons, the overall organization of the stau gene is similar in the two species, and the positions of the exon-intron junctions are perfectly conserved. Even an alternative choice between two splicing acceptor sites, which causes an insertion of 18 nucleotides in exon 5, is conserved in both humans and mice. An extremely G + C-rich region lacking canonical TATA and CAAT boxes was found upstream of the most 5' RACE sequence, suggesting that a housekeeping-like promoter drives the broad expression of Staufen in mammalian cells. This work represents the first step toward production of knockout mice and the elucidation of putative Staufen-linked hereditary diseases in humans.