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Genetics Home Reference: your guide to understanding genetic conditions
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RARA

Reviewed April 2011

What is the official name of the RARA gene?

The official name of this gene is “retinoic acid receptor, alpha.”

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

What is the normal function of the RARA gene?

The RARA gene provides instructions for making a transcription factor called the retinoic acid receptor, alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The RARα protein controls the activity (transcription) of genes that are important for the maturation (differentiation) of immature white blood cells beyond a particular stage called the promyelocyte.

The RARα protein binds to specific regions of DNA and attracts other proteins that help block (repress) gene transcription, the first step in protein production. In response to a specific signal, the repressive proteins are removed and other proteins that induce gene transcription bind to the RARα protein, allowing gene transcription and cell differentiation.

Does the RARA gene share characteristics with other genes?

The RARA gene belongs to a family of genes called NR (nuclear hormone receptors).

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 RARA gene related to health conditions?

acute promyelocytic leukemia - caused by mutations in the RARA gene

Gene mutations can be acquired during a person's lifetime and are present only in certain cells. These mutations are called somatic mutations, and they are not inherited. A somatic mutation involving the RARA gene causes acute promyelocytic leukemia, a cancer of the blood forming tissue (bone marrow). Acute promyelocytic leukemia is characterized by an accumulation of promyelocytes in the bone marrow. A rearrangement (translocation) of genetic material between chromosomes 15 and 17, written as t(15;17), fuses part of the RARA gene on chromosome 17 with part of another gene on chromosome 15 called PML. The protein produced from this fused gene, the PML-RARα protein, functions differently than the protein products of the normal PML and RARA genes.

The PML-RARα protein binds to DNA and represses gene transcription, like the normal RARα protein. However, the PML-RARα protein does not respond to the signal to induce transcription of genes, so the genes remain repressed.

Additionally, the function of the PML protein, the product of the PML gene, is disrupted. The PML protein blocks cell growth and division (proliferation) and induces self-destruction (apoptosis) in combination with other proteins. However, the PML-RARα protein does not block proliferation or induce apoptosis.

The PML-RARα protein blocks the differentiation of blood cells at the promyelocyte stage and allows abnormal cell proliferation. As a result, excess promyelocytes accumulate in the bone marrow and normal white blood cells cannot form, leading to acute promyelocytic leukemia.

Where is the RARA gene located?

Cytogenetic Location: 17q21

Molecular Location on chromosome 17: base pairs 40,309,170 to 40,357,642

The RARA gene is located on the long (q) arm of chromosome 17 at position 21.

The RARA gene is located on the long (q) arm of chromosome 17 at position 21.

More precisely, the RARA gene is located from base pair 40,309,170 to base pair 40,357,642 on chromosome 17.

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 RARA?

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

  • NR1B1
  • nuclear receptor subfamily 1 group B member 1
  • RAR
  • RAR-alpha

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 RARA?

acute ; apoptosis ; bone marrow ; cancer ; cell ; cell proliferation ; chromosome ; differentiation ; DNA ; gene ; gene transcription ; inherited ; leukemia ; mutation ; proliferation ; protein ; rearrangement ; receptor ; somatic mutation ; stage ; tissue ; transcription ; transcription factor ; translocation ; 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

  • Collins SJ. The role of retinoids and retinoic acid receptors in normal hematopoiesis. Leukemia. 2002 Oct;16(10):1896-905. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12357341?dopt=Abstract)
  • de Thé H, Lavau C, Marchio A, Chomienne C, Degos L, Dejean A. The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell. 1991 Aug 23;66(4):675-84. (http://www.ncbi.nlm.nih.gov/pubmed/1652369?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5914)
  • Pandolfi PP. Oncogenes and tumor suppressors in the molecular pathogenesis of acute promyelocytic leukemia. Hum Mol Genet. 2001 Apr;10(7):769-75. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11257111?dopt=Abstract)
  • OMIM: RETINOIC ACID RECEPTOR, ALPHA (http://omim.org/entry/180240)
  • Salomoni P, Pandolfi PP. The role of PML in tumor suppression. Cell. 2002 Jan 25;108(2):165-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11832207?dopt=Abstract)
  • Zelent A, Guidez F, Melnick A, Waxman S, Licht JD. Translocations of the RARalpha gene in acute promyelocytic leukemia. Oncogene. 2001 Oct 29;20(49):7186-203. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11704847?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: April 2011
Published: December 22, 2014