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®

POLR1D

Reviewed June 2012

What is the official name of the POLR1D gene?

The official name of this gene is “polymerase (RNA) I polypeptide D, 16kDa.”

POLR1D is the gene's official symbol. The POLR1D gene is also known by other names, listed below.

What is the normal function of the POLR1D gene?

The POLR1D gene provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III. These enzymes are involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. Both enzymes help synthesize a form of RNA known as ribosomal RNA (rRNA). RNA polymerase III also plays a role in the synthesis of several other forms of RNA, including transfer RNA (tRNA). Ribosomal RNA and transfer RNA assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells.

Based on its involvement in Treacher Collins syndrome (described below), the POLR1D gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.

Does the POLR1D gene share characteristics with other genes?

The POLR1D gene belongs to a family of genes called POLR (RNA polymerase subunits).

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 POLR1D gene related to health conditions?

Treacher Collins syndrome - caused by mutations in the POLR1D gene

At least 20 mutations in the POLR1D gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face. These mutations appear to alter the structure and function of the POLR1D protein, which reduces the amount of functional RNA polymerase I and RNA polymerase III in cells. Consequently, less rRNA is produced. Researchers speculate that a shortage of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the early development of facial bones and tissues. The abnormal cell death could underlie the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.

Where is the POLR1D gene located?

Cytogenetic Location: 13q12.2

Molecular Location on chromosome 13: base pairs 27,620,742 to 27,667,421

The POLR1D gene is located on the long (q) arm of chromosome 13 at position 12.2.

The POLR1D gene is located on the long (q) arm of chromosome 13 at position 12.2.

More precisely, the POLR1D gene is located from base pair 27,620,742 to base pair 27,667,421 on chromosome 13.

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 POLR1D?

You and your healthcare professional may find the following resources about POLR1D 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 POLR1D gene or gene products?

  • AC19
  • DNA-directed RNA polymerase I subunit D
  • DNA-directed RNA polymerases I and III subunit RPAC2
  • FLJ20616
  • MGC9850
  • RNA polymerases I and III subunit AC2
  • RPA9
  • RPA16
  • RPAC2
  • RPAC2_HUMAN
  • RPC16
  • RPO1-3

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 POLR1D?

acids ; apoptosis ; cell ; DNA ; DNA-directed RNA polymerase ; gene ; neural crest ; protein ; ribonucleic acid ; ribosomal RNA ; ribosomes ; RNA ; RNA polymerase ; subunit ; syndrome ; synthesis ; transfer RNA ; tRNA

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. (http://www.ncbi.nlm.nih.gov/pubmed/21131976?dopt=Abstract)
  • Fisher E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. doi: 10.1111/j.1399-0004.2011.01632.x. Epub 2011 Feb 7. (http://www.ncbi.nlm.nih.gov/pubmed/21261602?dopt=Abstract)
  • Gene Review: Treacher Collins Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1532)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51082)
  • Yao Y, Yamamoto K, Nishi Y, Nogi Y, Muramatsu M. Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. J Biol Chem. 1996 Dec 20;271(51):32881-5. (http://www.ncbi.nlm.nih.gov/pubmed/8955128?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: June 2012
Published: September 1, 2015