RNA component of mitochondrial RNA processing endoribonuclease , also known as RMRP , is a human gene .[ 3]
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][ 3]
It is associated with cartilage–hair hypoplasia .[ 4]
^ a b c GRCh38: Ensembl release 89: ENSG00000269900 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease" .^ Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia" . Journal of Human Genetics . 51 (8): 706–10. doi :10.1007/s10038-006-0015-3 PMID 16832578 .
Topper JN, Bennett JL, Clayton DA (July 1992). "A role for RNAase MRP in mitochondrial RNA processing" . Cell . 70 (1): 16–20. doi :10.1016/0092-8674(92)90529-L PMID 1623519 . S2CID 5284210 . Chang DD, Clayton DA (February 1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication" . The EMBO Journal . 6 (2): 409–17. doi :10.1002/j.1460-2075.1987.tb04770.x . PMC 553411 PMID 3582365 . van Eenennaam H, Pruijn GJ, van Venrooij WJ (June 1999). "hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes" . Nucleic Acids Research . 27 (12): 2465–72. doi :10.1093/nar/27.12.2465 . PMC 148449 PMID 10352175 . 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 (January 2001). "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia" . Cell . 104 (2): 195–203. doi :10.1016/S0092-8674(01)00205-7 hdl :2066/185709 PMID 11207361 . S2CID 13977736 . Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "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. doi :10.1034/j.1399-0004.2002.610210.x . PMID 11940090 . S2CID 7284120 . Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I (July 2002). "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. doi :10.1038/sj.ejhg.5200824 PMID 12107819 . Welting TJ, van Venrooij WJ, Pruijn GJ (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex" . Nucleic Acids Research . 32 (7): 2138–46. doi :10.1093/nar/gkh539 . PMC 407822 PMID 15096576 . Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A (October 2005). "Evolutionary comparison provides evidence for pathogenicity of RMRP mutations" . PLOS Genetics . 1 (4): e47. doi :10.1371/journal.pgen.0010047 PMC 1262189 PMID 16244706 . 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 (November 2005). "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. doi :10.1086/497708 . PMC 1271388 PMID 16252239 . Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B (December 2005). "Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia" . Human Molecular Genetics . 14 (23): 3723–40. doi :10.1093/hmg/ddi403 PMID 16254002 . Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia" . Journal of Human Genetics . 51 (8): 706–10. doi :10.1007/s10038-006-0015-3 PMID 16832578 . Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG (October 2006). "RMRP mutations in cartilage-hair hypoplasia" . American Journal of Medical Genetics. Part A . 140 (19): 2121–30. doi :10.1002/ajmg.a.31331 PMID 16838329 . S2CID 43692280 . Graf SA, Calado RT, Kajigaya S, Young NS (May 2007). "RMRP mutations in hematological disorders" . Clinical Genetics . 71 (5): 468–70. doi :10.1111/j.1399-0004.2007.00776.x . PMID 17489853 . S2CID 43030115 . Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A (September 2007). "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. doi :10.1086/521034 . PMC 1950841 PMID 17701897 .
