Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21.

Veronica C Ramos, Jose Vidal-Taboada, Salvador Bergoñon, Aliana Egeo, Elizabeth M C Fisher, Paolo Scartezzini, Rafael Oliva

Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Casanova 143, Spain.

Biochimica et biophysica acta 2002 Sep 27

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We report the isolation and characterisation of the gene WDR9 (WD Repeat 9), located in the Down Syndrome critical region-2 (DCR-2) from the human chromosome 21. This gene spans 125 kb of genomic sequence and is organised in 41 exons and 40 introns. The WDR9 cDNA has a size of 13 kb and encodes for a putative protein of 2269 amino acids with a potential location in the nucleus. Expression analysis in different human adult tissues and in cultured cell lines indicates that the gene has several tissue-specific transcripts. The more significant protein signatures in the WDR9 protein sequence are for WD repeats, bromodomain, beta-ketoacyl synthases, and ribonucleoprotein (RNP). The WDR9 protein has a high similarity with the Mus musculus neuronal differentiation protein (NDRP) and a region of similarity with the region of the Yotiao protein that has been proposed to bind the NR1 subunit of the NMDA receptor. The presence of protein-protein interaction domains as such the WD repeats, and the similarity of the WDR9 protein to regulatory proteins suggest a potential involvement in some of the clinical features associated to the DCR-2.

Citation

Veronica C Ramos, Jose Vidal-Taboada, Salvador Bergoñon, Aliana Egeo, Elizabeth M C Fisher, Paolo Scartezzini, Rafael Oliva. Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. Biochimica et biophysica acta. 2002 Sep 27;1577(3):377-83