Show simple item record Horvath J Fliegauf M Olbrich H Kispert A King SM Mitchison H Zariwala MA Knowles MR Sudbrak R Fekete, György Neesen J Reinhardt R Omran H 2017-06-19T08:26:17Z 2017-06-19T08:26:17Z 2005
dc.identifier 21844451176
dc.identifier.citation pagination=41-47; journalVolume=33; journalIssueNumber=1; journalTitle=AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY;
dc.identifier.uri doi:10.1165/rcmb.2004-0335OC
dc.description.abstract Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic infections of the upper and lower airways, randomization of left/right body asymmetry, and reduced fertility. The phenotype results from dysfunction of motile cilia of the respiratory epithelium, at the embryonic node and of sperm flagella. Ultrastructural defects often involve outer dynein arms (ODAs), that are composed of several light (LCs), intermediate, and heavy (HCs) dynein chains. We recently showed that recessive mutations of DNAH5, the human ortholog of the biflagellate Chlamydomonas ODA gamma-HC, cause PCD. In Chlamydomonas, motor protein activity of the gamma-ODA-HC is regulated by binding of the axonemal LC1. We report the identification of the human (DNAL1) and murine (Dnal1) orthologs of the Chlamydomonas LC1-gene. Northern blot and in situ hybridization analyses revealed specific expression in testis, embryonic node, respiratory epithelium, and ependyma, resembling the DNAH5 expression pattern. In silico protein analysis showed complete conservation of the LC1/gamma-HC binding motif in DNAL1. Protein interaction studies demonstrated binding of DNAL1 and DNAH5. Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD.
dc.relation.ispartof urn:issn:1044-1549
dc.title Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients
dc.type Journal Article 2017-03-28T09:04:42Z
dc.language.rfc3066 en
dc.identifier.mtmt 1691137
dc.identifier.wos 000230318300006
dc.identifier.pubmed 15845866
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem

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