CHRDL1
| CHRDL1 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | CHRDL1 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 300350 MGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
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| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) |
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| Lokacija (UCSC) | Chr X: 110.67 – 110.8 Mb | Chr X: 142.07 – 142.18 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Hordinoliki protein 1 je protein koji je kod ljudi kodiran genom CHRDL1.[5] CHRDL1 je strukturni glikoprotein koji se nalazi na X hromozomu i specifično kodira venotropin, koji je antagonistički protein morfogenom proteinu kostiju 4.[6]
Funkcija
Ovaj gen kodira antagonist morfogenetskog proteina kosti 4. Kodirani protein može iati ulogu u topografskoj retinotektumskoj projekciji i regulaciji mrežnjačine angiogeneza, kao odgovor na hipoksiju. Opisane su [[alternativna prerada RNK]|alternativno prerađene]] varijante transkripata koje kodiraju različite izoforme
CHRDL1 iMa važnu ulogu u procesima kao što su diferencijacije embrionskih ćelija, osteogeneze, neurogeneze, suzbijanja tumora i metastaza, te formiranja mrežnjače.[7][8] Najjača ekspresija ovog gena je u prednjem segmentu oka i mrežnjači, kao i u malom mozgu i neokorteksu. U nerekorteksu vrhunac dostiže u vrijeme sazrijevanja sinapsi, kako bi se omogućilo pravilno stvaranje sinapsnih formacija.[9] Zato je ovaj gen važan za pravilno formiranje dijelova centralnog nervnog sistema i očiju.
Klinički značaj
Mutacije u CHRDL1 povezane su sa Neuhäuserovim sindromom, X-vezanom megalocorneom i centralnom debljinom rožnjače.[10] Mutacije ovog gena mogu prouzrokovati razne efekte na gore spomenute procese. Jedan potencijalni ishod mutacije CHRDL1 je nesindromna X-vezana megalokornea (XMC), koja je posljedica ili missens ili nonsens mutacije ili mutacije gena sa pomicanjem okvira čitanja. <Ref name XMC je proširenje prednjeg segmenta oka koje može dovesti do drugih problema, kao što su katarakt i glaukom. Drugi potencijalni ishod je kancerogena formacija. Budući da je CHRDL1 supresor tumora i metastaza, mutacija ovog gena može izazvati stvaranje tumorskih ćelija. Najvažniji učinak koji bi mutacija mogla imati je na stabilizaciju sinapsi. Budući da gen ograničava plastičnost sinapsi, mutacija može uzrokovati probleme u njihovom pravilnom sazrijevanju, što dovodi do različitih neuroloških poremećaja. Još uvijek ne postoji nokaut model za ovaj gen koji bi pokazao da li poremećaj može uzrokovati promjene sinapsninih događaja i smanjenje sinapsnih GluA2 AMPAR-i koji dovode do smanjene plastičnosti.
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000101938 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031283 - Ensembl, maj 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.
- ^ "Entrez Gene: Chordin-like 1". Pristupljeno 6. 8. 2014.
- ^ Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, et al. (juni 2015). "Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model". Human Molecular Genetics. 24 (11): 3119–32. doi:10.1093/hmg/ddv063. PMID 25712132.
- ^ Liu T, Li B, Zheng XF, Jiang SD, Zhou ZZ, Xu WN, et al. (2019). "Chordin-Like 1 Improves Osteogenesis of Bone Marrow Mesenchymal Stem Cells Through Enhancing BMP4-SMAD Pathway". Frontiers in Endocrinology (jezik: engleski). 10: 360. doi:10.3389/fendo.2019.00360. PMC 6582276. PMID 31249554.
- ^ Pei YF, Zhang YJ, Lei Y, Wu WD, Ma TH, Liu XQ (april 2017). "Hypermethylation of the CHRDL1 promoter induces proliferation and metastasis by activating Akt and Erk in gastric cancer". Oncotarget. 8 (14): 23155–23166. doi:10.18632/oncotarget.15513. PMC 5410293. PMID 28423564.
- ^ Blanco-Suarez E, Liu TF, Kopelevich A, Allen NJ (decembar 2018). "Astrocyte-Secreted Chordin-like 1 Drives Synapse Maturation and Limits Plasticity by Increasing Synaptic GluA2 AMPA Receptors". Neuron. 100 (5): 1116–1132.e13. doi:10.1016/j.neuron.2018.09.043. PMC 6382071. PMID 30344043.
- ^ Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, et al. (2014). "Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness". PLOS ONE. 9 (8): e104163. Bibcode:2014PLoSO...9j4163D. doi:10.1371/journal.pone.0104163. PMC 4122416. PMID 25093588.
Dopunska literatura
- Sakuta H, Suzuki R, Takahashi H, Kato A, Shintani T, Yamamoto TS, et al. (juli 2001). "Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina". Science. 293 (5527): 111–5. doi:10.1126/science.1058379. PMID 11441185.
- Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, et al. (februar 2012). "X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development". American Journal of Human Genetics. 90 (2): 247–59. doi:10.1016/j.ajhg.2011.12.019. PMC 3276677. PMID 22284829.
- Kane R, Godson C, O'Brien C (juni 2008). "Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis". Molecular Vision. 14: 1138–48. PMC 2435163. PMID 18587495.
- Fernandes H, Dechering K, van Someren E, Steeghs I, Apotheker M, Mentink A, et al. (2010). "Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells". Cells Tissues Organs. 191 (6): 443–52. doi:10.1159/000281825. PMID 20130390.
- Coronary Artery Disease (C4D) Genetics Consortium (mart 2011). "A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease". Nature Genetics. 43 (4): 339–44. doi:10.1038/ng.782. PMID 21378988. Arhivirano s originala, 9. 5. 2021. Pristupljeno 25. 3. 2021.
- Larman BW, Karolak MJ, Adams DC, Oxburgh L (maj 2009). "Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury". Journal of the American Society of Nephrology. 20 (5): 1020–31. doi:10.1681/ASN.2008070768. PMC 2678041. PMID 19357253.
- Coffinier C, Tran U, Larraín J, De Robertis EM (januar 2001). "Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate". Mechanisms of Development. 100 (1): 119–22. doi:10.1016/s0925-4773(00)00507-4. PMID 11118896.
- Gazzerro E, Canalis E (juni 2006). "Bone morphogenetic proteins and their antagonists". Reviews in Endocrine & Metabolic Disorders. 7 (1–2): 51–65. doi:10.1007/s11154-006-9000-6. PMID 17029022.
- Chen D, Zhao M, Mundy GR (decembar 2004). "Bone morphogenetic proteins". Growth Factors. 22 (4): 233–41. doi:10.1080/08977190412331279890. PMID 15621726.
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