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Gene Review

DNAH5  -  dynein, axonemal, heavy chain 5

Homo sapiens

Synonyms: Axonemal beta dynein heavy chain 5, CILD3, Ciliary dynein heavy chain 5, DNAHC5, Dnahc5, ...
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Disease relevance of DNAH5


Psychiatry related information on DNAH5

  • Two siblings had the clinical features of PCD and ciliary disorientation alone on repeated biopsies taken 10 yr apart [6].

High impact information on DNAH5


Chemical compound and disease context of DNAH5


Biological context of DNAH5

  • CONCLUSIONS: DNAH5 is frequently mutated in patients with PCD exhibiting outer dynein arm defects and mutations cluster in five exons [11].
  • METHODS: We screened 109 white PCD families originating from Europe and North America for presence of DNAH5 mutations by haplotype analyses and/or sequencing [11].
  • This information is useful for establishing a clinical molecular genetic test for PCD [12].
  • In 30 PCD families, we identified 33 novel (12 nonsense, 8 frameshift, 5 splicing, and 8 missense mutations) and two known DNAH5 mutations [11].
  • In addition, we excluded linkage between this gene and similar PCD phenotypes in five other affected families, providing a clear demonstration of locus heterogeneity [13].

Anatomical context of DNAH5


Associations of DNAH5 with chemical compounds

  • Because patients with PCD use cough clearance as an airway defense mechanism, we tested the hypothesis that aerosolized uridine-5'-triphosphate (UTP) would improve clearance during cough by its actions to stimulate Cl- secretion and mucin release by goblet cells [16].
  • The ion-imprinted polymer based on HL1 proved to be particularly well adapted for yttrium extraction, having a sizeable capacity (8.9+/-0.2 mg g(-1) resin) and a fast rate of extraction (t(1/2)=1.7 min) [17].
  • The amount of loosely-bound and acquired fluoride was determined after an experimental period of five days in plaque-covered, demineralized (PCD); clean, demineralized (CD); plaque-covered, sound (PCS); and clean sound enamel (CS) [18].
  • The oxidation of metoprolol by human liver microsomes was impaired by histamine (IC50 values for ODM appearance at 25 microM: liver HL1 greater than 10, HL3 = 3.8 and HL4 = 3.7 mM) [19].
  • Treatment of PMN with colchicine induced a red shift in the Laurdan excitation and emission spectra with the same trend observed in PMN from the PCD group [20].

Other interactions of DNAH5

  • Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia [12].
  • Applying a polymerase chain reaction-based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus [21].
  • Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia [15].

Analytical, diagnostic and therapeutic context of DNAH5


  1. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Olbrich, H., Häffner, K., Kispert, A., Völkel, A., Volz, A., Sasmaz, G., Reinhardt, R., Hennig, S., Lehrach, H., Konietzko, N., Zariwala, M., Noone, P.G., Knowles, M., Mitchison, H.M., Meeks, M., Chung, E.M., Hildebrandt, F., Sudbrak, R., Omran, H. Nat. Genet. (2002) [Pubmed]
  2. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Olbrich, H., Horváth, J., Fekete, A., Loges, N.T., van's Gravesande, K.S., Blum, A., Hörmann, K., Omran, H. Pediatr. Res. (2006) [Pubmed]
  3. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Guichard, C., Harricane, M.C., Lafitte, J.J., Godard, P., Zaegel, M., Tack, V., Lalau, G., Bouvagnet, P. Am. J. Hum. Genet. (2001) [Pubmed]
  4. A neuroinductive biomaterial based on dopamine. Gao, J., Kim, Y.M., Coe, H., Zern, B., Sheppard, B., Wang, Y. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  5. Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. Neesen, J., Kirschner, R., Ochs, M., Schmiedl, A., Habermann, B., Mueller, C., Holstein, A.F., Nuesslein, T., Adham, I., Engel, W. Hum. Mol. Genet. (2001) [Pubmed]
  6. Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. Rayner, C.F., Rutman, A., Dewar, A., Greenstone, M.A., Cole, P.J., Wilson, R. Am. J. Respir. Crit. Care Med. (1996) [Pubmed]
  7. Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Wodehouse, T., Kharitonov, S.A., Mackay, I.S., Barnes, P.J., Wilson, R., Cole, P.J. Eur. Respir. J. (2003) [Pubmed]
  8. Effect of L-arginine infusion on airway NO in cystic fibrosis and primary ciliary dyskinesia syndrome. Grasemann, H., Gärtig, S.S., Wiesemann, H.G., Teschler, H., Konietzko, N., Ratjen, F. Eur. Respir. J. (1999) [Pubmed]
  9. The clinical effect and the effect on the ciliary motility of oral N-acetylcysteine in patients with cystic fibrosis and primary ciliary dyskinesia. Stafanger, G., Garne, S., Howitz, P., Morkassel, E., Koch, C. Eur. Respir. J. (1988) [Pubmed]
  10. The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia. Canciani, M., Barlocco, E.G., Mastella, G., de Santi, M.M., Gardi, C., Lungarella, G. Pediatr. Pulmonol. (1988) [Pubmed]
  11. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Hornef, N., Olbrich, H., Horvath, J., Zariwala, M.A., Fliegauf, M., Loges, N.T., Wildhaber, J., Noone, P.G., Kennedy, M., Antonarakis, S.E., Blouin, J.L., Bartoloni, L., Nüsslein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M.R., Reinhardt, R., Omran, H. Am. J. Respir. Crit. Care Med. (2006) [Pubmed]
  12. Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation. 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., Loges, N.T., Bridoux, A.M., Pennarun, G., Duriez, B., Escudier, E., Mitchison, H.M., Chodhari, R., Chung, E.M., Morgan, L.C., de Iongh, R.U., Rutland, J., Pradal, U., Omran, H., Amselem, S., Knowles, M.R. Am. J. Respir. Crit. Care Med. (2006) [Pubmed]
  13. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Pennarun, G., Escudier, E., Chapelin, C., Bridoux, A.M., Cacheux, V., Roger, G., Clément, A., Goossens, M., Amselem, S., Duriez, B. Am. J. Hum. Genet. (1999) [Pubmed]
  14. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Horváth, J., Fliegauf, M., Olbrich, H., Kispert, A., King, S.M., Mitchison, H., Zariwala, M.A., Knowles, M.R., Sudbrak, R., Fekete, G., Neesen, J., Reinhardt, R., Omran, H. Am. J. Respir. Cell Mol. Biol. (2005) [Pubmed]
  15. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Fliegauf, M., Olbrich, H., Horvath, J., Wildhaber, J.H., Zariwala, M.A., Kennedy, M., Knowles, M.R., Omran, H. Am. J. Respir. Crit. Care Med. (2005) [Pubmed]
  16. Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia. Noone, P.G., Bennett, W.D., Regnis, J.A., Zeman, K.L., Carson, J.L., King, M., Boucher, R.C., Knowles, M.R. Am. J. Respir. Crit. Care Med. (1999) [Pubmed]
  17. Use of dipicolinate-based complexes for producing ion-imprinted polystyrene resins for the extraction of yttrium-90 and heavy lanthanide cations. Chauvin, A.S., Bünzli, J.C., Bochud, F., Scopelliti, R., Froidevaux, P. Chemistry (Weinheim an der Bergstrasse, Germany) (2006) [Pubmed]
  18. The influence of plaque on reaction mechanism of MFP and NaF in vivo. Hellwig, E., Klimek, J., Wagner, H. J. Dent. Res. (1987) [Pubmed]
  19. Histamine inhibition of mixed function oxidase activity in rat and human liver microsomes and in the isolated perfused rat liver. Morris, C.Q., Tucker, G.T., Crewe, H.K., Harlow, J.R., Woods, H.F., Lennard, M.S. Biochem. Pharmacol. (1989) [Pubmed]
  20. Plasma membrane polarity of polymorphonuclear leucocytes from children with primary ciliary dyskinesia. Fiorini, R., Littarru, G.P., Coppa, G.V., Kantar, A. Eur. J. Clin. Invest. (2000) [Pubmed]
  21. 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. Omran, H., Häffner, K., Völkel, A., Kuehr, J., Ketelsen, U.P., Ross, U.H., Konietzko, N., Wienker, T., Brandis, M., Hildebrandt, F. Am. J. Respir. Cell Mol. Biol. (2000) [Pubmed]
  22. Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. Zhang, Y.J., O'Neal, W.K., Randell, S.H., Blackburn, K., Moyer, M.B., Boucher, R.C., Ostrowski, L.E. J. Biol. Chem. (2002) [Pubmed]
  23. Freeze fracture study of airway epithelium from patients with primary ciliary dyskinesia. Thai, C.H., Gambling, T.M., Carson, J.L. Thorax (2002) [Pubmed]
  24. Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes. Maiti, A.K., Mattéi, M.G., Jorissen, M., Volz, A., Zeigler, A., Bouvagnet, P. Eur. J. Hum. Genet. (2000) [Pubmed]
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