Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

YARS

Reviewed January 2010

What is the official name of the YARS gene?

The official name of this gene is “tyrosyl-tRNA synthetase.”

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

What is the normal function of the YARS gene?

The YARS gene provides instructions for making an enzyme called tyrosyl-tRNA synthetase. This enzyme is found in all cells, where it plays an important role in the production (synthesis) of proteins. During protein synthesis, building blocks (amino acids) are connected together in a specific order, creating the chain of amino acids that makes up the protein. Tyrosyl-tRNA synthetase plays a role in adding the amino acid tyrosine at the proper place in a protein's chain of amino acids.

In addition to its role in protein synthesis, tyrosyl-tRNA synthetase appears to have other functions. Under certain conditions, such as inflammation, this enzyme is cut (cleaved) into two fragments called mini-tyrRS and C-tyrRS. Research indicates that mini-tyrRS promotes the growth of new blood vessels (angiogenesis). Both fragments appear to stimulate the movement of particular cells, such as white blood cells that help fight infection.

Does the YARS gene share characteristics with other genes?

The YARS gene belongs to a family of genes called aaRS (aminoacyl tRNA synthetases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

Charcot-Marie-Tooth disease - caused by mutations in the YARS gene

At least three mutations in the YARS gene cause a form of Charcot-Marie-Tooth disease known as dominant intermediate C. One mutation replaces the amino acid glycine with the amino acid arginine at protein position 41 of the tyrosyl-tRNA synthetase enzyme (written as Gly41Arg or G41R). Another mutation replaces the amino acid glutamic acid with the amino acid lysine at protein position 196 (written as Glu196Lys or E196K). A third YARS gene mutation results in an altered version of the tyrosyl-tRNA synthetase enzyme that is missing four amino acids. Mutations in the YARS gene probably reduce the activity of tyrosyl-tRNA synthetase, which could affect the synthesis of any protein that contains tyrosine. It is unclear how these mutations lead to the dominant intermediate C form of Charcot-Marie-Tooth disease.

Where is the YARS gene located?

Cytogenetic Location: 1p35.1

Molecular Location on chromosome 1: base pairs 32,775,238 to 32,818,031

The YARS gene is located on the short (p) arm of chromosome 1 at position 35.1.

The YARS gene is located on the short (p) arm of chromosome 1 at position 35.1.

More precisely, the YARS gene is located from base pair 32,775,238 to base pair 32,818,031 on chromosome 1.

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 YARS?

You and your healthcare professional may find the following resources about YARS 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 YARS gene or gene products?

  • SYYC_HUMAN
  • Tyrosyl-tRNA Ligase
  • tyrRS
  • YRS
  • YTS

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 YARS?

acids ; amino acid ; angiogenesis ; arginine ; enzyme ; gene ; glutamic acid ; glycine ; infection ; inflammation ; ligase ; lysine ; mutation ; protein ; synthesis ; tRNA ; tyrosine ; white blood cells

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

References

  • Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet. 2008;9:87-107. doi: 10.1146/annurev.genom.9.081307.164204. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18767960?dopt=Abstract)
  • Ewalt KL, Schimmel P. Activation of angiogenic signaling pathways by two human tRNA synthetases. Biochemistry. 2002 Nov 12;41(45):13344-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12416978?dopt=Abstract)
  • Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22. (http://www.ncbi.nlm.nih.gov/pubmed/16429158?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8565)
  • Wakasugi K, Slike BM, Hood J, Otani A, Ewalt KL, Friedlander M, Cheresh DA, Schimmel P. A human aminoacyl-tRNA synthetase as a regulator of angiogenesis. Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):173-7. Epub 2002 Jan 2. (http://www.ncbi.nlm.nih.gov/pubmed/11773626?dopt=Abstract)
  • Yang XL, Schimmel P, Ewalt KL. Relationship of two human tRNA synthetases used in cell signaling. Trends Biochem Sci. 2004 May;29(5):250-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15130561?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: January 2010
Published: October 9, 2014