Universität zu Köln

Olbrich, Heike, Cremes, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmueller, Janine, Rommelmann, Frank and Omran, Heymut (2015). Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am. J. Hum. Genet., 97 (4). S. 546 - 555. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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Abstract

Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurrent respiratory infections. Numerous genetic defects, most of which can be detected by transmission electron microscopy (TEM), are so far known to cause different abnormalities of the ciliary axoneme. However, some defects are not regularly discernable by TEM because the ciliary architecture of the axoneme remains preserved. This applies in particular to isolated defects of the nexin links, also known as the nexin-dynein regulatory complex (N-DRC), connecting the peripheral outer microtubular doublets. Immunofluorescence analyses of respiratory cells from PCD-affected individuals detected a N-DRC defect. Genome-wide exome sequence analyses identified recessive loss-of-function mutations in GAS8 encoding DRC4 in three independent PCD-affected families.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Olbrich, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Cremes, Carolin UNSPECIFIED UNSPECIFIED UNSPECIFIED Loges, Niki T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Werner, Claudius UNSPECIFIED UNSPECIFIED UNSPECIFIED Nielsen, Kim G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Marthin, June K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Philipsen, Maria UNSPECIFIED UNSPECIFIED UNSPECIFIED Wallmeier, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Pennekamp, Petra UNSPECIFIED UNSPECIFIED UNSPECIFIED Menchen, Tabea UNSPECIFIED UNSPECIFIED UNSPECIFIED Edelbusch, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Dougherty, Gerard W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schwartz, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Rommelmann, Frank UNSPECIFIED UNSPECIFIED UNSPECIFIED Omran, Heymut UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-391822
DOI:	10.1016/j.ajhg.2015.08.012
Journal or Publication Title:	Am. J. Hum. Genet.
Volume:	97
Number:	4
Page Range:	S. 546 - 555
Date:	2015
Publisher:	CELL PRESS
Place of Publication:	CAMBRIDGE
ISSN:	1537-6605
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language OUTER; CHLAMYDOMONAS; INNER; DEFECTS; PROTEIN; RANDOMIZATION; MOTILITY; SUBUNIT; ARMS; INTERACTS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/39182