DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

American Journal of Human Genetics

Volumn 83, Issue 5, 2008, Pages 547-558

  Loges, Niki Tomas ^a,b   Olbrich, Heike ^a   Fenske, Lale ^a   Mussaffi, Huda ^c   Horvath, Judit ^d   Fliegauf, Manfred ^a   Kuhl, Heiner ^e   Baktai, Gyorgy ^f   Peterffy, Erzsebet ^f   Chodhari, Rahul ^g   Chung, Eddie M K ^g   Rutman, Andrew ^h   O'Callaghan, Christopher ^h   Blau, Hannah ^c   Tiszlavicz, Laszlo ⁱ   Voelkel, Katarzyna ^j   Witt, Michal ^j,k   Zietkiewicz, Ewa ^j   Neesen, Juergen ^l   Reinhardt, Richard ^e   Mitchison, Hannah M ^g   Omran, Heymut ^a   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d NATIONAL MEDICAL CENTER   (Hungary)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f Svabhegy Pediatric Institute   (Hungary)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF LEICESTER   (United Kingdom)

ⁱ UNIVERSITY OF SZEGED   (Hungary)

^j INSTITUTE OF HUMAN GENETICS   (Poland)

^k INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^l UNIVERSITY OF VIENNA   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; OUTER DYNEIN ARM; PROTEIN; PROTEIN DNAH5; PROTEIN DNAI2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AXONEME; BODY BUILD; CONTROLLED STUDY; DNAH5 GENE; DNAI1 GENE; DNAI2 GENE; FEMALE; FLAGELLUM; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMOTILE CILIA SYNDROME; IMMUNOFLUORESCENCE; LUNG ALVEOLUS CELL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIMARY CILIARY DYSKINESIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SPERMATOZOON TAIL;

ADOLESCENT; ADULT; AGED; ALLELES; CHILD; CHILD, PRESCHOOL; CILIA; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DYNEIN ATPASE; EXONS; FEMALE; FLAGELLA; GENE FREQUENCY; HUMANS; KARTAGENER SYNDROME; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 55249083702     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.10.001     Document Type: Article

References (29)

1. Afzelius B.A. A human syndrome caused by immotile cilia. Science 193 (1976) 317-319
2. Fliegauf M., Benzing T., and Omran H. When cilia go bad: Cilia defects and ciliopathies. Nat. Rev. Mol. Cell Biol. 8 (2007) 880-893
3. Meeks M., and Bush A. Primary ciliary dyskinesia (PCD). Pediatr. Pulmonol. 29 (2000) 307-316
4. Geremek M., and Witt M. Primary ciliary dyskinesia: Genes, candidate genes and chromosomal regions. J. Appl. Genet. 45 (2004) 347-361
5. Nonaka S., Tanaka Y., Okada Y., Takeda S., Harada A., Kanai Y., Kido M., and Hirokawa N. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95 (1998) 829-837
6. Kennedy M.P., Omran H., Leigh M.W., Dell S., Morgan L., Molina P.L., Robinson B.V., Minnix S.L., Olbrich H., Severin T., et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 115 (2007) 2814-2821
7. Zariwala M.A., Knowles M.R., and Omran H. Genetic defects in ciliary structure and function. Annu. Rev. Physiol. 69 (2007) 423-450
8. Pazour G.J., Agrin N., Walker B.L., and Witman G.B. Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. J. Med. Genet. 43 (2006) 62-73
9. Olbrich H., Haffner K., Kispert A., Volkel A., Volz A., Sasmaz G., Reinhardt R., Hennig S., Lehrach H., Konietzko N., et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat. Genet. 30 (2002) 143-144
10. Hornef N., Olbrich H., Horvath J., Zariwala M.A., Fliegauf M., Loges N.T., Wildhaber J., Noone P.G., Kennedy M., Antonarakis S.E., et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am. J. Respir. Crit. Care Med. 15 (2006) 120-126
11. Pennarun G., Escudier E., Chapelin C., Bridoux A.M., Cacheux V., Roger G., Clement A., Goossens M., Amselem S., and Duriez B. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet. 65 (1999) 1508-1519
12. Zariwala M.A., Leigh M.W., Ceppa F., Kennedy M.P., Noone P.G., Carson J.L., Hazucha M.J., Lori A., Horvath J., Olbrich H., et al. Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation. Am. J. Respir. Crit. Care Med. 15 (2006) 858-866
13. Failly M., Saitta A., Muñoz A., Falconnet E., Rossier C., Santamaria F., de Santi M.M., Lazor R., Delozier-Blanchet C.D., Bartoloni L., et al. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 76 (2008) 198-204 10.1159/000128567 Published online April 23, 2008
14. Bartoloni L., Blouin J.L., Pan Y., Gehrig C., Maiti A.K., Scamuffa N., Rossier C., Jorissen M., Armengot M., Meeks M., et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc. Natl. Acad. Sci. USA 99 (2002) 10282-10286
15. Duriez B., Duquesnoy P., Escudier E., Bridoux A.M., Escalier D., Rayet I., Marcos E., Vojtek A.M., Bercher J.F., and Amselem S. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc. Natl. Acad. Sci. USA 104 (2007) 3336-3341
16. Schwabe G.C., Hoffmann K., Loges N.T., Birker D., Rossier C., de Santi M.M., Olbrich H., Fliegauf M., Failly M., Liebers U., et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum. Mutat. 29 (2008) 289-298
17. Pfister K.K., Fay R.B., and Witman G.B. Purification and polypeptide composition of dynein ATPases from Chlamydomonas flagella. Cell Motil. 2 (1982) 525-547
18. Pennarun G., Chapelin C., Escudier E., Bridoux A.M., Dastot F., Cacheux V., Goossens M., Amselem S., and Duriez B. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Hum. Genet. 107 (2000) 642-649
19. Lonergan K.M., Chari R., Deleeuw R.J., Shadeo A., Chi B., Tsao M.S., Jones S., Marra M., Ling V., Ng R., et al. Identification of novel lung genes in bronchial epithelium by serial analysis of gene expression. Am. J. Respir. Cell Mol. Biol. 35 (2006) 651-661
20. Fliegauf M., Olbrich H., Horvath J., Wildhaber J.H., Zariwala M.A., Kennedy M., Knowles M.R., and Omran H. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am. J. Respir. Crit. Care Med. 171 (2005) 1343-1349
21. Ibanez-Tallon I., Heintz N., and Omran H. To beat or not to beat: Roles of cilia in development and disease. Hum. Mol. Genet. 1 (2003) R27-R35
22. Chang Y.F., Imam J.S., and Wilkinson M.F. The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem. 76 (2007) 51-74
23. Omran H., Haffner K., Volkel A., Kuehr J., Ketelsen U.P., Ross U.H., Konietzko N., Wienker T., Brandis M., and Hildebrandt F. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am. J. Respir. Cell Mol. Biol. 23 (2000) 696-702
24. Kispert A., Olbrich H., Volz A., Ketelsen U.P., Horvath J., Melkaoui R., Petry M., Zariwala M., Noone P.G., Knowles M., et al. Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations. Thorax 58 (2003) 552-554
25. Fowkes M.E., and Mitchell D.R. The role of preassembled cytoplasmic complexes in assembly of flagellar dynein subunits. Mol. Biol. Cell 9 (1998) 2337-2347
26. Mitchell D.R., and Kang Y. Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene. J. Cell Biol. 113 (1991) 835-842
27. Mitchell D.R., and Rosenbaum J.L. A motile Chlamydomonas flagellar mutant that lacks outer dynein arms. J. Cell Biol. 100 (1985) 1228-1234
28. Olbrich H., Horvath J., Fekete A., Loges N.T., van's Gravesande K.S., Blum A., Hormann K., and Omran H. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatr. Res. 59 (2006) 418-422
29. Rashid S., Breckle R., Hupe M., Geisler S., Doerwald N., and Neesen J. The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1. Mol. Reprod. Dev. 73 (2006) 784-794