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Normal Function
The CDT1 gene provides instructions for making a protein that is important in the copying of a cell's DNA before the cell divides (a process known as DNA replication). The protein produced from this gene is one of a group of proteins known as the pre-replication complex. In a multi-step process, the components of this complex attach (bind) to certain regions of DNA known as origins of replication (or origins), where the process of DNA copying begins. When the pre-replication complex is attached to the origin, replication is able to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.
Health Conditions Related to Genetic Changes
Meier-Gorlin syndrome
Mutations in the CDT1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the CDT1 protein, typically by changing single protein building blocks (amino acids) or by leading to production of an abnormally short version of the CDT1 protein. As a result, assembly of the pre-replication complex is impaired, which disrupts replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which slows growth of the bones and other tissues during development. It is not known why development of the kneecaps and ears is particularly affected.
More About This Health ConditionOther Names for This Gene
- CDT1_HUMAN
- DNA replication factor Cdt1
- Double parked, Drosophila, homolog of
- DUP
- RIS2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Ballabeni A, Zamponi R, Moore JK, Helin K, Kirschner MW. Geminin deploys multiple mechanisms to regulate Cdt1 before cell division thus ensuring the proper execution of DNA replication. Proc Natl Acad Sci U S A. 2013 Jul 23;110(30):E2848-53. doi: 10.1073/pnas.1310677110. Epub 2013 Jul 8. Citation on PubMed or Free article on PubMed Central
- Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Citation on PubMed or Free article on PubMed Central
- Niida H, Kitagawa M. Regulation of DNA replication licensing. Curr Drug Targets. 2012 Dec;13(13):1588-92. doi: 10.2174/138945012803529965. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.