EVC (gene): Difference between revisions
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--><ref name="pmid10700184">{{cite journal |vauthors=Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J |title=Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis |journal=[[Nat. Genet.]] |volume=24 |issue=3 |pages=283–6 |date=March 2000 |pmid=10700184 |doi=10.1038/73508}}</ref> |
--><ref name="pmid10700184">{{cite journal |vauthors=Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J |title=Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis |journal=[[Nat. Genet.]] |volume=24 |issue=3 |pages=283–6 |date=March 2000 |pmid=10700184 |doi=10.1038/73508}}</ref> |
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EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog signaling molecules (Hh).<ref name=":0">{{Cite journal|last=Ruiz-Perez|first=V. L.|last2=Blair|first2=H. J.|last3=Rodriguez-Andres|first3=M. E.|last4=Blanco|first4=M. J.|last5=Wilson|first5=A.|last6=Liu|first6=Y.-N.|last7=Miles|first7=C.|last8=Peters|first8=H.|last9=Goodship|first9=J. A.|date=2007-07-18|title=Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia|url=http://dx.doi.org/10.1242/dev.007542|journal=Development|volume=134|issue=16|pages=2903–2912|doi=10.1242/dev.007542|issn=0950-1991}}</ref> Mice with an inactivation of the EVC gene (EVC <sup>-</sup>/<sup>-</sup>) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments.<ref name=":0" /> In a study of 65 individuals affected with EvC, mutations in the EVC gene was found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon.<ref>{{Cite journal|last=Tompson|first=Stuart W. J.|last2=Ruiz-Perez|first2=Victor L.|last3=Blair|first3=Helen J.|last4=Barton|first4=Stephanie|last5=Navarro|first5=Victoria|last6=Robson|first6=Joanne L.|last7=Wright|first7=Michael J.|last8=Goodship|first8=Judith A.|date=2006-09-21|title=Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients|url=http://dx.doi.org/10.1007/s00439-006-0237-7|journal=Human Genetics|volume=120|issue=5|pages=663–670|doi=10.1007/s00439-006-0237-7|issn=0340-6717}}</ref> More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations.<ref>{{Cite journal|last=Ulucan|first=Hakan|last2=Gül|first2=Davut|last3=Sapp|first3=Julie C|last4=Cockerham|first4=John|last5=Johnston|first5=Jennifer J|last6=Biesecker|first6=Leslie G|date=2008-10-23|title=Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene|url=http://dx.doi.org/10.1186/1471-2350-9-92|journal=BMC Medical Genetics|volume=9|issue=1|doi=10.1186/1471-2350-9-92|issn=1471-2350}}</ref> |
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==See also== |
==See also== |
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Revision as of 20:40, 2 May 2019
| Ellis van Creveld syndrome | |||||||
|---|---|---|---|---|---|---|---|
 EVC gene and its neighbors on chromosome 4p16 | |||||||
| Identifiers | |||||||
| Symbol | EVC | ||||||
| NCBI gene | 2121 | ||||||
| HGNC | 3497 | ||||||
| OMIM | 604831 | ||||||
| RefSeq | NM_153717 | ||||||
| UniProt | P57679 | ||||||
| Other data | |||||||
| Locus | Chr. 4 p16 | ||||||
| |||||||
EVC is a gene associated with Ellis-van Creveld syndrome. It overlaps with the CRMP1 gene.[1]
EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog signaling molecules (Hh).[2] Mice with an inactivation of the EVC gene (EVC -/-) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments.[2] In a study of 65 individuals affected with EvC, mutations in the EVC gene was found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon.[3] More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations.[4]
See also
References
- ^ Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J (March 2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283–6. doi:10.1038/73508. PMID 10700184.
- ^ a b Ruiz-Perez, V. L.; Blair, H. J.; Rodriguez-Andres, M. E.; Blanco, M. J.; Wilson, A.; Liu, Y.-N.; Miles, C.; Peters, H.; Goodship, J. A. (2007-07-18). "Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia". Development. 134 (16): 2903–2912. doi:10.1242/dev.007542. ISSN 0950-1991.
- ^ Tompson, Stuart W. J.; Ruiz-Perez, Victor L.; Blair, Helen J.; Barton, Stephanie; Navarro, Victoria; Robson, Joanne L.; Wright, Michael J.; Goodship, Judith A. (2006-09-21). "Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients". Human Genetics. 120 (5): 663–670. doi:10.1007/s00439-006-0237-7. ISSN 0340-6717.
- ^ Ulucan, Hakan; Gül, Davut; Sapp, Julie C; Cockerham, John; Johnston, Jennifer J; Biesecker, Leslie G (2008-10-23). "Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVCgene". BMC Medical Genetics. 9 (1). doi:10.1186/1471-2350-9-92. ISSN 1471-2350.
{{cite journal}}: CS1 maint: unflagged free DOI (link)
External links
- EVC+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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