title: Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21.
abstract: 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.
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000737:chemistry / Q000235:genetics*; D018076:DNA, Complementary / Q000737:chemistry; D004314:Down Syndrome / Q000196:embryology / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames; D000092468:Bromodomain Containing Proteins
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D009687:Nuclear Proteins; C468562:BRWD1 protein, human; D000092468:Bromodomain Containing Proteins