RMRP explained

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.

Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site (Chang and Clayton, 1987). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]^[1]

It is associated with cartilage–hair hypoplasia.^[2]

Further reading

• Topper JN, Bennett JL, Clayton DA . A role for RNAase MRP in mitochondrial RNA processing . Cell . 70 . 1 . 16–20 . July 1992 . 1623519 . 10.1016/0092-8674(92)90529-L . 5284210 . free .
• Chang DD, Clayton DA . A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication . The EMBO Journal . 6 . 2 . 409–17 . February 1987 . 3582365 . 553411 . 10.1002/j.1460-2075.1987.tb04770.x.
• van Eenennaam H, Pruijn GJ, van Venrooij WJ . hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes . Nucleic Acids Research . 27 . 12 . 2465–72 . June 1999 . 10352175 . 148449 . 10.1093/nar/27.12.2465 .
• 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 . 104 . 2 . 195–203 . January 2001 . 11207361 . 10.1016/S0092-8674(01)00205-7 . 13977736 . free . 2066/185709 . free .
• 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 . Clinical Genetics . 61 . 2 . 146–51 . February 2002 . 11940090 . 10.1034/j.1399-0004.2002.610210.x . 7284120 .
• 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 . European Journal of Human Genetics . 10 . 7 . 439–47 . July 2002 . 12107819 . 10.1038/sj.ejhg.5200824 . free .
• Welting TJ, van Venrooij WJ, Pruijn GJ . Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex . Nucleic Acids Research . 32 . 7 . 2138–46 . 2004 . 15096576 . 407822 . 10.1093/nar/gkh539 .
• 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 Genetics . 1 . 4 . e47 . October 2005 . 16244706 . 1262189 . 10.1371/journal.pgen.0010047 . free .
• Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A . Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator . American Journal of Human Genetics . 77 . 5 . 795–806 . November 2005 . 16252239 . 1271388 . 10.1086/497708 .
• 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 . Human Molecular Genetics . 14 . 23 . 3723–40 . December 2005 . 16254002 . 10.1093/hmg/ddi403 . free .
• 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 . Journal of Human Genetics . 51 . 8 . 706–10 . 2006 . 16832578 . 10.1007/s10038-006-0015-3 . free .
• Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG . RMRP mutations in cartilage-hair hypoplasia . American Journal of Medical Genetics. Part A . 140 . 19 . 2121–30 . October 2006 . 16838329 . 10.1002/ajmg.a.31331 . 43692280 . free .
• Graf SA, Calado RT, Kajigaya S, Young NS . RMRP mutations in hematological disorders . Clinical Genetics . 71 . 5 . 468–70 . May 2007 . 17489853 . 10.1111/j.1399-0004.2007.00776.x . 43030115 .
• 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 . American Journal of Human Genetics . 81 . 3 . 519–29 . September 2007 . 17701897 . 1950841 . 10.1086/521034 .

External links

• • GeneReviews/NCBI/NIH/UW entry on Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Notes and References

1. Web site: Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease.
2. 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 . Journal of Human Genetics . 51 . 8 . 706–10 . 2006 . 16832578 . 10.1007/s10038-006-0015-3 . free .