DYNC2H1 explained

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

• dynein

Further reading

• Gibbons BH, Asai DJ, Tang WJ . Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins . Mol. Biol. Cell . 5 . 1 . 57–70 . 1994 . 8186465 . 10.1091/mbc.5.1.57. 301009 . etal.
• Vaisberg EA, Grissom PM, McIntosh JR . Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles . J. Cell Biol. . 133 . 4 . 831–42 . 1996 . 8666668 . 10.1083/jcb.133.4.831 . 2120833 .
• Criswell PS, Ostrowski LE, Asai DJ . A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells . J. Cell Sci. . 109 . 7. 1891–8 . 1997 . 10.1242/jcs.109.7.1891 . 8832411 .
• Kastury K, Taylor WE, Gutierrez M . 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 . 1997 . 9325061 . 10.1006/geno.1997.4903 . etal.
• Grissom PM, Vaisberg EA, McIntosh JR . Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2 . Mol. Biol. Cell . 13 . 3 . 817–29 . 2002 . 11907264 . 10.1091/mbc.01-08-0402 . 99601 .
• Ohara O, Nagase T, Mitsui G . Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method . DNA Res. . 9 . 2 . 47–57 . 2003 . 12056414 . 10.1093/dnares/9.2.47 . etal. 10.1.1.579.1376 .
• Mikami A, Tynan SH, Hama T . Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells . J. Cell Sci. . 115 . Pt 24 . 4801–8 . 2003 . 12432068 . 10.1242/jcs.00168 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Yokota T, Kouno J, Adachi K . Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin . Acta Neuropathol. . 111 . 1 . 29–38 . 2006 . 16320026 . 10.1007/s00401-005-1085-6 . 22206187 . etal.

Notes and References

1. Koehler MR, Schmid M, Neesen J . Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1 . Cytogenet Cell Genet . 82 . 1–2 . 123–5 . Nov 1998 . 9763680 . 10.1159/000015085 . 46818608 .
2. Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M . 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 . Dec 1997 . 9373155 . 10.1016/S0378-1119(97)00417-4 .
3. Web site: Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1.
4. Merrill AE, Merriman B, Farrington-Rock C . Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome . Am. J. Hum. Genet. . 84 . 4 . 542–9 . April 2009 . 19361615 . 2667993 . 10.1016/j.ajhg.2009.03.015 . etal.
5. Dagoneau N, Goulet M, Geneviève D . DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III . Am. J. Hum. Genet. . 84 . 5 . 706–11 . May 2009 . 19442771 . 2681009 . 10.1016/j.ajhg.2009.04.016 . etal.