DYNC2H1
Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.[1][2][3]
It is associated with Short rib-polydactyly syndrome type 3.[4]
It is also associated with Asphyxiating thoracic dysplasia.[5]
See also
References
- ↑ Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet 82 (1–2): 123–5. doi:10.1159/000015085. PMID 9763680.
- ↑ Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene 200 (1–2): 193–202. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.
- ↑ "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
- ↑ Merrill AE, Merriman B, Farrington-Rock C; et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
- ↑ Dagoneau N, Goulet M, Geneviève D; et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771.
Further reading
- Gibbons BH, Asai DJ, Tang WJ; et al. (1994). "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins". Mol. Biol. Cell 5 (1): 57–70. doi:10.1091/mbc.5.1.57. PMC 301009. PMID 8186465.
- Vaisberg EA, Grissom PM, McIntosh JR (1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J. Cell Biol. 133 (4): 831–42. doi:10.1083/jcb.133.4.831. PMC 2120833. PMID 8666668.
- Criswell PS, Ostrowski LE, Asai DJ (1997). "A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells". J. Cell. Sci. 109 (7): 1891–8. PMID 8832411.
- 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. doi:10.1006/geno.1997.4903. PMID 9325061.
- Grissom PM, Vaisberg EA, McIntosh JR (2002). "Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2". Mol. Biol. Cell 13 (3): 817–29. doi:10.1091/mbc.01-08-0402. PMC 99601. PMID 11907264.
- Ohara O, Nagase T, Mitsui G; et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. doi:10.1093/dnares/9.2.47. PMID 12056414.
- Mikami A, Tynan SH, Hama T; et al. (2003). "Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells". J. Cell. Sci. 115 (Pt 24): 4801–8. doi:10.1242/jcs.00168. PMID 12432068.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. doi:10.1038/ng1285. PMID 14702039.
- Yokota T, Kouno J, Adachi K; et al. (2006). "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin". Acta Neuropathol. 111 (1): 29–38. doi:10.1007/s00401-005-1085-6. PMID 16320026.
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