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  Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Loges, N. T., Olbrich, H., Becker-Heck, A., Häffner, K., Heer, A., Reinhard, C., et al. (2009). Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. American Journal of Human Genetics, 85(6), 883-889. doi:10.1016/j.ajhg.2009.10.018.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am J Hum Genet.

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Loges, Niki Tomas, Autor
Olbrich, Heike, Autor
Becker-Heck, Anita, Autor
Häffner, Karsten, Autor
Heer, Angelina, Autor
Reinhard, Christina, Autor
Schmidts, Miriam, Autor
Kispert, Andreas, Autor
Zariwala, Maimoona A., Autor
Leigh, Margaret W., Autor
Knowles, Michael R., Autor
Zentgraf, Hanswalter, Autor
Seithe, Horst, Autor
Nürnberg, Gudrun, Autor
Nürnberg, Peter, Autor
Reinhardt, Richard1, Autor           
Omran, Heymut, Autor
Affiliations:
1High Throughput Technologies, Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433552              

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 Zusammenfassung: 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.

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Sprache(n): eng - English
 Datum: 2009-11-25
 Publikationsstatus: Erschienen
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 Ort, Verlag, Ausgabe: -
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Titel: American Journal of Human Genetics
  Alternativer Titel : Am J Hum Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 85 (6) Artikelnummer: - Start- / Endseite: 883 - 889 Identifikator: ISSN: 0002-9297