Reviewed November 2008
What is the official name of the RMRP gene?
The official name of this gene is “RNA component of mitochondrial RNA processing endoribonuclease.”
RMRP is the gene's official symbol. The RMRP gene is also known by other names, listed below.
What is the normal function of the RMRP gene?
Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme called mitochondrial RNA-processing endoribonuclease, or RNase MRP.
The RNase MRP enzyme is thought to be involved in several important processes in the cell. For example, it likely helps copy (replicate) the DNA found in the energy-producing centers of cells (mitochondria). The RNase MRP enzyme probably also processes ribosomal RNA, which is required for assembling protein building blocks (amino acids) into functioning proteins. In addition, this enzyme helps control the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.
How are changes in the RMRP gene related to health conditions?
- cartilage-hair hypoplasia - caused by mutations in the RMRP gene
More than 50 mutations that cause cartilage-hair hypoplasia have been identified in the RMRP gene. Approximately 90 percent of cases of this disorder result from a mutation in which the DNA building block (nucleotide) guanine is substituted for the nucleotide adenine at position 70 in the RMRP gene (written as 70A>G). This mutation is found in almost all known affected individuals from the Amish population, approximately 92 percent of those of Finnish descent, and about half of those in other populations.
Mutations in the RMRP gene likely result in the production of a noncoding RNA that is unstable. This unstable molecule cannot bind to some of the proteins needed to make the RNase MRP enzyme complex. These changes are believed to affect the activity of the enzyme, which interferes with its important functions within cells. Disruption of the RNase MRP enzyme complex causes short stature (dwarfism), skeletal abnormalities, abnormal immune system function (immune deficiency), elevated cancer risk, sparse hair growth (hypotrichosis), and other signs and symptoms of cartilage-hair hypoplasia.
- other disorders - caused by mutations in the RMRP gene
Mutations in the RMRP gene can cause other disorders that, like cartilage-hair hypoplasia, result in malformations near the ends of long bones in the arms and legs (metaphyseal dysplasia). RMRP gene mutations, including some of the same mutations that cause cartilage-hair hypoplasia, may result in a similar disorder known as metaphyseal dysplasia without hypotrichosis. This condition is characterized by short stature and skeletal abnormalities that are usually less pronounced than those seen in cartilage-hair hypoplasia. Individuals with metaphyseal dysplasia without hypotrichosis do not have any changes in the structure or appearance of their hair, but they may have immune deficiency and an increased risk of developing cancer. It is unknown why the same mutations may cause both these conditions.
Anauxetic dysplasia is caused by different RMRP mutations than those that cause cartilage-hair hypoplasia and metaphyseal dysplasia without hypotrichosis. People with anauxetic dysplasia have extreme short stature and severe skeletal abnormalities. This condition generally does not affect the immune system or the hair, but mild intellectual disability has been reported.
Where is the RMRP gene located?
Cytogenetic Location: 9p21-p12
Molecular Location on chromosome 9: base pairs 35,657,747 to 35,658,014
The RMRP gene is located on the short (p) arm of chromosome 9 between positions 21 and 12.
More precisely, the RMRP gene is located from base pair 35,657,747 to base pair 35,658,014 on chromosome 9.
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 RMRP?
You and your healthcare professional may find the following resources about RMRP helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK84550/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for RMRP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6023%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(RMRP%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- ANAUXETIC DYSPLASIA (http://omim.org/entry/607095)
- CARTILAGE-HAIR HYPOPLASIA (http://omim.org/entry/250250)
- METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (http://omim.org/entry/250460)
- MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF (http://omim.org/entry/157660)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_RMRP.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6023)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10031)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6023)
What other names do people use for the RMRP gene or gene products?
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 RMRP?
cell cycle ;
immune system ;
ribosomal RNA ;
short stature ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet. 2005 Oct;1(4):e47. (http://www.ncbi.nlm.nih.gov/pubmed/16244706?dopt=Abstract)
- Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet. 2002 Feb;61(2):146-51. (http://www.ncbi.nlm.nih.gov/pubmed/11940090?dopt=Abstract)
- Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure. Br J Haematol. 2008 May;141(3):376-87. doi: 10.1111/j.1365-2141.2008.07095.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18410571?dopt=Abstract)
- Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1;14(23):3723-40. Epub 2005 Oct 27. (http://www.ncbi.nlm.nih.gov/pubmed/16254002?dopt=Abstract)
- Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. (http://www.ncbi.nlm.nih.gov/pubmed/16838329?dopt=Abstract)
- Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. J Hum Genet. 2006;51(8):706-10. Epub 2006 Jul 11. (http://www.ncbi.nlm.nih.gov/pubmed/16832578?dopt=Abstract)
- Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007 Mar;17(3):219-26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17189938?dopt=Abstract)
- Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. Am J Med Genet A. 2007 Nov 15;143A(22):2675-81. (http://www.ncbi.nlm.nih.gov/pubmed/17937437?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6023)
- Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I. The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):81-3. (http://www.ncbi.nlm.nih.gov/pubmed/12888988?dopt=Abstract)
- Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. Eur J Hum Genet. 2002 Jul;10(7):439-47. (http://www.ncbi.nlm.nih.gov/pubmed/12107819?dopt=Abstract)
- Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001 Jan 26;104(2):195-203. (http://www.ncbi.nlm.nih.gov/pubmed/11207361?dopt=Abstract)
- Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol. 2006 Apr;117(4):897-903. (http://www.ncbi.nlm.nih.gov/pubmed/16630949?dopt=Abstract)
- Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29. Epub 2007 Aug 6. (http://www.ncbi.nlm.nih.gov/pubmed/17701897?dopt=Abstract)
- Welting TJ, Mattijssen S, Peters FM, van Doorn NL, Dekkers L, van Venrooij WJ, Heus HA, Bonafé L, Pruijn GJ. Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. Biochim Biophys Acta. 2008 Mar;1783(3):455-66. doi: 10.1016/j.bbamcr.2007.11.016. Epub 2007 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/18164267?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.