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Genetics Home Reference: your guide to understanding genetic conditions
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CDT1

Reviewed February 2014

What is the official name of the CDT1 gene?

The official name of this gene is “chromatin licensing and DNA replication factor 1.”

CDT1 is the gene's official symbol. The CDT1 gene is also known by other names, listed below.

What is the normal function of the CDT1 gene?

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.

How are changes in the CDT1 gene related to health conditions?

Meier-Gorlin syndrome - caused by mutations in the CDT1 gene

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.

Where is the CDT1 gene located?

Cytogenetic Location: 16q24.3

Molecular Location on chromosome 16: base pairs 88,803,777 to 88,809,257

The CDT1 gene is located on the long (q) arm of chromosome 16 at position 24.3.

The CDT1 gene is located on the long (q) arm of chromosome 16 at position 24.3.

More precisely, the CDT1 gene is located from base pair 88,803,777 to base pair 88,809,257 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CDT1?

You and your healthcare professional may find the following resources about CDT1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CDT1 gene or gene products?

  • CDT1_HUMAN
  • DNA replication factor Cdt1
  • Double parked, Drosophila, homolog of
  • DUP
  • RIS2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CDT1?

acids ; cell ; cell division ; chromatin ; DNA ; DNA replication ; gene ; protein ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/23836640?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/21358632?dopt=Abstract)
  • OMIM: CHROMATIN LICENSING AND DNA REPLICATION FACTOR 1 (http://omim.org/entry/605525)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81620)
  • Niida H, Kitagawa M. Regulation of DNA replication licensing. Curr Drug Targets. 2012 Dec;13(13):1588-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22998185?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2014
Published: November 24, 2014