CHODL

CHODL

CHODL

Protein-coding gene in the species Homo sapiens

Chondrolectin is a protein that in humans is encoded by the CHODL gene.[5][6] Mouse chondrolectin is encoded by Chodl.[7]

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Structure

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion.[5][7] In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens.[8] This protein has been shown to localise to the perinucleus.[5][9][10]

Function

The exact function of chondrolectin is unknown but it has been shown to be a marker of fast motor neurons in mice,[10] and is involved in motor neuron development and growth in zebrafish (Danio rerio).[11] Furthermore, human chondrolectin has been shown to localise to motor neurons within the spinal cord.[12]

Clinical significance

Chondrolectin is alternatively spliced in the spinal cord of mouse models[13] of the neuromuscular disease, spinal muscular atrophy (SMA), which predominantly affects lower motor neurons.[12] Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor neuron defects.[14]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000154645 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000022860 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Weng L, Smits P, Wauters J, Merregaert J (Jun 2002). "Molecular cloning and characterization of human chondrolectin, a novel type I transmembrane protein homologous to C-type lectins". Genomics. 80 (1): 62–70. doi:10.1006/geno.2002.6806. PMID 12079284.
  6. [6]
    "Entrez Gene: CHODL chondrolectin".
  7. [7]
    Weng L, Hübner R, Claessens A, Smits P, Wauters J, Tylzanowski P, Van Marck E, Merregaert J (Apr 2003). "Isolation and characterization of chondrolectin (Chodl), a novel C-type lectin predominantly expressed in muscle cells". Gene. 308: 21–29. doi:10.1016/s0378-1119(03)00425-6. PMID 12711387.
  8. [8]
    Zelensky AN, Gready JE (Dec 2005). "The C-type lectin-like domain superfamily". FEBS J. 272 (24): 6179–6217. doi:10.1111/j.1742-4658.2005.05031.x. PMID 16336259. S2CID 7084402.
  9. [9]
    Claessens A, Van de Vijver K, Van Bockstaele DR, Wauters J, Berneman ZN, Van Marck E, Merregaert J (Nov 2007). "Expression and localization of CHODLDeltaE/CHODLfDeltaE, the soluble isoform of chondrolectin". Cell Biol Int. 31 (11): 1323–1330. doi:10.1016/j.cellbi.2007.05.014. PMID 17606388. S2CID 86132649.
  10. [10]
    Enjin A, Rabe N, Nakanishi ST, Vallstedt A, Gezelius H, Memic F, Lind M, Hjalt T, Tourtellotte WG, Bruder C, Eichele G, Whelan PJ, Kullander K (Jun 2010). "Identification of novel spinal cholinergic genetic subtypes disclose Chodl and Pitx2 as markers for fast motor neurons and partition cells". J Comp Neurol. 518 (12): 2284–2304. doi:10.1002/cne.22332. PMID 20437528. S2CID 23009923.
  11. [11]
    Zhong, Z.; Ohnmacht, J.; Reimer, M. M.; Bach, I.; Becker, T.; Becker, C. G. (2012). "Chondrolectin Mediates Growth Cone Interactions of Motor Axons with an Intermediate Target". Journal of Neuroscience. 32 (13): 4426–4439. doi:10.1523/JNEUROSCI.5179-11.2012. PMC 6622066. PMID 22457492.
  12. [12]
    Bäumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K (Dec 2009). "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLOS Genet. 5 (12): e1000773. doi:10.1371/journal.pgen.1000773. PMC 2787017. PMID 20019802.
  13. [13]
    Sleigh JN, Gillingwater TH, Talbot K (Aug 2011). "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy". Dis. Models Mech. 4 (4): 457–467. doi:10.1242/dmm.007245. PMC 3124050. PMID 21708901.
  14. [14]
    Sleigh JN, Barreiro-Iglesias A, Oliver PL, Biba A, Becker T, Davies KE, Becker CG, Talbot K (Sep 2013). "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Hum Mol Genet. 23 (4): 855–69. doi:10.1093/hmg/ddt477. PMID 24067532.

Further reading


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