COLQ explained

Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of acetylcholinesterase found in the neuromuscular junction. In humans it is encoded by the COLQ gene.^{[1] [2]}

Function

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Multiple transcript variants encoding different isoforms have been found for this gene.

Clinical significance

Mutations in this gene are associated with endplate acetylcholinesterase deficiency^[2] and one of the causes of the neuromuscular disease, congenital myasthenia gravis.^[3]

Further reading

• Donger C . Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) . Am. J. Hum. Genet. . 63 . 4 . 967–75 . 1998 . 9758617 . 10.1086/302059 . 1377491 . vanc. Krejci E . Serradell AP . 3 . Eymard . Bruno . Bon . Suzanne . Nicole . Sophie . Chateau . Danielle . Gary . Françoise . Fardeau . Michel .
• Ohno K . Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? . Am. J. Hum. Genet. . 65 . 3 . 635–44 . 1999 . 10441569 . 10.1086/302551 . 1377969 . vanc. Brengman JM . Felice KJ . 3 . Cornblath . D . Engel . A .
• Altamirano CV, Lockridge O . Conserved aromatic residues of the C-terminus of human butyrylcholinesterase mediate the association of tetramers . Biochemistry . 38 . 40 . 13414–22 . 1999 . 10529218 . 10.1021/bi991475+.
• Ohno K . The spectrum of mutations causing end-plate acetylcholinesterase deficiency . Ann. Neurol. . 47 . 2 . 162–70 . 2000 . 10665486 . 10.1002/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q . vanc. Engel AG . Brengman JM . 3 . Shen . Xin-Ming . Heidenreich . Fedor . Vincent . Angela . Milone . Margherita . Tan . Ersin . Demirci . Mehmet . 9178923 .
• Deprez P, Inestrosa NC . Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase . Protein Eng. . 13 . 1 . 27–34 . 2000 . 10679527 . 10.1093/protein/13.1.27 . 10533/172149 . free .
• Shapira YA . Three novel COLQ mutations and variation of phenotypic expressivity due to G240X . Neurology . 58 . 4 . 603–9 . 2002 . 11865139 . 10.1212/wnl.58.4.603. vanc. Sadeh ME . Bergtraum MP . 3 . Tsujino . A . Ohno . K . Shen . XM . Brengman . J . Edwardson . S . Matoth . I . 43142424 .
• Strausberg RL . 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 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ishigaki K . Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency . Neuromuscul. Disord. . 13 . 3 . 236–44 . 2003 . 12609505 . 10.1016/s0960-8966(02)00243-2 . vanc. Nicolle D . Krejci E . 3 . Leroy . Jean-Paul . Koenig . Jeanine . Fardeau . Michel . Eymard . Bruno . Hantaı̈ . Daniel . 19202945 .
• Hillman RT, Green RE, Brenner SE . An unappreciated role for RNA surveillance . Genome Biol. . 5 . 2 . R8 . 2005 . 14759258 . 10.1186/gb-2004-5-2-r8 . 395752 . free .
• Cartaud A . MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction . J. Cell Biol. . 165 . 4 . 505–15 . 2004 . 15159418 . 10.1083/jcb.200307164 . 2172359 . vanc. Strochlic L . Guerra M . 3 . Blanchard . B . Lambergeon . M . Krejci . E . Cartaud . J . Legay . C .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Dvir H . The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix . EMBO J. . 23 . 22 . 4394–405 . 2005 . 15526038 . 10.1038/sj.emboj.7600425 . 526459 . vanc. Harel M . Bon S . 3 . Liu . Wang-Qing . Vidal . Michel . Garbay . Christiane . Sussman . Joel L . Massoulié . Jean . Silman . Israel .
• Ting AK, Siow NL, Kong LW, Tsim KW . Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers . Chem. Biol. Interact. . 157-158 . 63–70 . 2006 . 16256971 . 10.1016/j.cbi.2005.10.009 .
• Schreiner F . Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives . Neuromuscul. Disord. . 17 . 3 . 262–5 . 2007 . 17300939 . 10.1016/j.nmd.2006.11.010 . vanc. Hoppenz M . Klaeren R . 3 . Reimann . Jens . Woelfle . Joachim . 30720410 .

Notes and References

1. Ohno K, Brengman J, Tsujino A, Engel AG . Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme . Proc Natl Acad Sci U S A . 95 . 16 . 9654–9 . Sep 1998 . 9689136 . 21394 . 10.1073/pnas.95.16.9654 . 1998PNAS...95.9654O . free .
2. Web site: Entrez Gene: COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase.
3. Finsterer J . Congenital myasthenic syndromes . Orphanet Journal of Rare Diseases . 14 . 1 . 57 . February 2019 . 30808424 . 6390566 . 10.1186/s13023-019-1025-5 . free .