DNAH11
DNAH11 and common names
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| Location (UCSC) | Chr 7: 21.54 – 21.9 Mb | Chr 12: 117.84 – 118.16 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
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Dynein axonemal heavy chain 11 (DNAH11) is a
Function
This gene encodes a member of the dynein heavy chain family, DNAH11, a microtubule-dependent motor ATPase protein critical for processes involving ciliary movement. The gene DNAH11 has reported associations in a number of important physiological processes including the movement of respiratory cilia, sperm motility, and establishment of the adult body plan.[7][10][11][12] A knockout model of this gene has not been reported.
Embryogenesis
The body plan is naturally
Conditions Associated with DNAH11
Fertility-Related Effects
Genetic errors with DNAH11 have been shown to cause a number of fertility-related effects in both sexes. Decreased motile cilia-specific expression of DNAH11 within the axoneme of sperm is associated with lower levels of sperm motility.[17][18] For this reason, males with PCD are not sterile, but they are often infertile under conventional methods due to lack of sperm motility;[6][18] however, there are cases of DNAH11 mutant males fathering offspring without intervention of assisted reproductive technologies.[19][20] In females with PCD or Kartagener's syndrome, there are increased reports of subfertility and risk of ectopic pregnancy.[21][22] Because females' fallopian tubes are lined with motile cilia which show identical motor protein composition to those observed in the respiratory tract, this is believed to result in the increased risks observed in case studies (although affected PCD females' cilia have not been directly analyzed so this remains inconclusive).[23]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000105877 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018581 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 23935907.
- ^ a b "Entrez Gene: DNAH11 dynein, axonemal, heavy chain 11".
- ^ a b c d Lucas, J. S., Adam, E. C., Goggin, P. M., Jackson, C. L., Powles‐Glover, N., Patel, S. H., ... & Lackie, P. M. (2012). Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Human mutation, 33(3), 495-503. https://doi.org/10.1002/humu.22001
- ^ Supp, D. M., Brueckner, M., Kuehn, M. R., Witte, D. P., Lowe, L. A., McGrath, J., ... & Potter, S. S. (1999). Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development, 126(23), 5495-5504. https://doi.org/10.1242/dev.126.23.5495
- ^ Xia, H., Huang, X., Deng, S., Xu, H., Yang, Y., Liu, X., ... & Deng, H. (2021). DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. PLoS One, 16(6), e0252786. https://doi.org/10.1371/journal.pone.0252786
- PMID 31160482.
- PMID 17059358.
- PMID 10704402.
- PMID 9708727.
- PMID 13949682.
- ^ PMID 12142464.
- PMID 20996259.
- PMID 31178125.
- ^ PMID 31781811.
- PMID 29122913.
- S2CID 22292489.
- S2CID 19624982.
- PMID 9043902.
- PMID 26373788.
Further reading
- Schwabe GC, Hoffmann K, Loges NT, et al. (2008). "Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations". Hum. Mutat. 29 (2): 289–98. S2CID 22292489.
- Cheung PY, Zhang Y, Long J, et al. (2004). "p150(Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs". J. Biol. Chem. 279 (44): 45308–11. PMID 15375157.
- Varadi A, Johnson-Cadwell LI, Cirulli V, et al. (2005). "Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1". J. Cell Sci. 117 (Pt 19): 4389–400. PMID 15304525.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. PMID 12853948.
- Bartoloni L, Blouin JL, Pan Y, et al. (2002). "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. U.S.A. 99 (16): 10282–6. PMID 12142464.
- Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.
- Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11". Genomics. 44 (3): 362–4. PMID 9325061.