Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-12-16
pubmed:abstractText
Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein complexes responsible for cilia-beat generation and regulation, respectively. Here, we demonstrate that large genomic deletions, as well as point mutations involving LRRC50, are responsible for a distinct PCD variant that is characterized by a combined defect involving assembly of the ODAs and IDAs. Functional analyses showed that LRRC50 deficiency disrupts assembly of distally and proximally DNAH5- and DNAI2-containing ODA complexes, as well as DNALI1-containing IDA complexes, resulting in immotile cilia. On the basis of these findings, we assume that LRRC50 plays a role in assembly of distinct dynein-arm complexes.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-10408707, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-10577904, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-10967136, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-11788826, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-15269178, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-15716348, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-15750039, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-15790966, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-17194703, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-17360648, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-17955020, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-18022865, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-18178183, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-18385425, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-18950741, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-19035517, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-19052621, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-9725897, http://linkedlifedata.com/resource/pubmed/commentcorrection/19944400-9865700
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1537-6605
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
883-9
pubmed:dateRevised
2010-9-27
pubmed:meshHeading
pubmed-meshheading:19944400-Adolescent, pubmed-meshheading:19944400-Adult, pubmed-meshheading:19944400-Alleles, pubmed-meshheading:19944400-Animals, pubmed-meshheading:19944400-Chromosomes, pubmed-meshheading:19944400-DNA Mutational Analysis, pubmed-meshheading:19944400-Dyneins, pubmed-meshheading:19944400-Female, pubmed-meshheading:19944400-Flagella, pubmed-meshheading:19944400-Gene Deletion, pubmed-meshheading:19944400-Genomics, pubmed-meshheading:19944400-Humans, pubmed-meshheading:19944400-Kartagener Syndrome, pubmed-meshheading:19944400-Male, pubmed-meshheading:19944400-Mice, pubmed-meshheading:19944400-Microtubule-Associated Proteins, pubmed-meshheading:19944400-Models, Genetic, pubmed-meshheading:19944400-Mutation, pubmed-meshheading:19944400-Point Mutation, pubmed-meshheading:19944400-Proteins
pubmed:year
2009
pubmed:articleTitle
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
pubmed:affiliation
Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural