Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013080 (Down syndrome)
 14,180 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. 1235 27

Human WDR9 has been mapped to chromosome 21, within one of the Down syndrome (DS) critical regions. Here, we study the expression pattern of the murine Wdr9 gene and its protein product. We show that Wdr9 is broadly expressed in the mouse embryo by means of in situ hybridization and immunohistochemistry. Wdr9 expression levels are dynamic during embryonic development as revealed by Northern blot analysis. We further show that WDR9 is a nuclear protein associated with BRG1, a SWI/SNF complex component. We also demonstrate that a polyglutamine-containing region of the protein functions as a transcriptional activation domain. We propose that WDR9 is a transcriptional regulator involved in chromatin remodeling through the action of two bromodomains and contacts to the SWI/SNF complex. These results may provide a molecular basis for the association of WDR9 with DS.
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PMID:Expression of the Wdr9 gene and protein products during mouse development. 1288 71

We have identified ramshackle (ram) as a dominant suppressor of hedgehog loss-of-function in the developing Drosophila eye. We have characterized the gene and it encodes a double bromodomain protein with eight WD40 repeats. The Ram protein is localized predominantly to polytene chromosome interbands and is required for the transcription of some genes. ram is an essential gene and null mutants die during larval life. In the developing retina, ram mutant cells have morphological defects including disrupted apical junctions, disorganized actin cytoskeletons and mislocalized nuclei, which are followed by delays in cell-cycle transitions and the expression of differentiation markers. ram is a conserved gene: its vertebrate homolog (WDR9), which lies in Down's Syndrome Critical region 2 (DCR2) is also known to be associated with Brahma-Related-Gene 1 (BRG1).
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PMID:The Drosophila ramshackle gene encodes a chromatin-associated protein required for cell morphology in the developing eye. 1690