caa a22 4500 445861541 CHVBK 20180317145444.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s00439-010-0922-4 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0922-4 Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes [Elektronische Daten] [Maciej Geremek, Marcel Bruinenberg, Ewa Ziętkiewicz, Andrzej Pogorzelski, Michał Witt, Cisca Wijmenga] Cilia are small cellular projections that either act as sensors (primary cilia) or propel fluid over the epithelia of various organs (motile cilia). The organellum has gained much attention lately because of its involvement in a group of human diseases called ciliopathies. Primary ciliary dyskinesia (PCD) is an autosomal recessive ciliopathy caused by mutations in cilia motility genes. The disease is characterized by recurrent respiratory tract infections due to the lack of an efficient mucociliary clearance. We performed whole-genome gene expression profiling in bronchial biopsies from PCD patients. We used the quality threshold clustering algorithm to identify groups of genes that revealed highly correlated RNA expression patterns in the biopsies. The largest cluster contained 372 genes and was significantly enriched for genes related to cilia. The database and literature search showed that 164 genes in this cluster were known cilia genes, strongly indicating that the remaining 208 genes were likely to be new cilia genes. The tissue expression pattern of the 208 new cilia genes and the 164 known genes was consistent with the presence of motile cilia in a given tissue. The analysis of the upstream promotor sequences revealed evidence for RFX transcription factors binding site motif in both subgroups. Based on the correlated expression patterns in PCD-affected tissues, we identified 208 genes that we predict to be involved in cilia biology. Our predictions are based directly on the human material and not on model organisms. This list of genes provides candidate genes for PCD and other ciliopathies. Springer-Verlag, 2010 Geremek Maciej International Institute of Molecular and Cell Biology, Warsaw, Poland aut Bruinenberg Marcel Department of Genetics, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands aut Ziętkiewicz Ewa Department of Molecular and Clinical Genetics, Institute of Human Genetics, Poznan, Poland aut Pogorzelski Andrzej Institute of Tuberculosis and Lung Diseases, Rabka, Poland aut Witt Michał International Institute of Molecular and Cell Biology, Warsaw, Poland aut Wijmenga Cisca Department of Genetics, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands aut Human Genetics Springer-Verlag 129/3(2011-03-01), 283-293 0340-6717 129:3<283 2011 129 439 https://doi.org/10.1007/s00439-010-0922-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0922-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Geremek Maciej International Institute of Molecular and Cell Biology, Warsaw, Poland aut NATIONALLICENCE 700 1- Bruinenberg Marcel Department of Genetics, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Ziętkiewicz Ewa Department of Molecular and Clinical Genetics, Institute of Human Genetics, Poznan, Poland aut NATIONALLICENCE 700 1- Pogorzelski Andrzej Institute of Tuberculosis and Lung Diseases, Rabka, Poland aut NATIONALLICENCE 700 1- Witt Michał International Institute of Molecular and Cell Biology, Warsaw, Poland aut NATIONALLICENCE 700 1- Wijmenga Cisca Department of Genetics, University Medical Center Groningen, 9700 RB, Groningen, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/3(2011-03-01), 283-293 0340-6717 129:3<283 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer