RMRP

RMRP
Identifiers
Aliases	RMRP, CHH, NME1, RMRPR, RRP2, RNA component of mitochondrial RNA processing endoribonuclease
External IDs	OMIM: 157660 GeneCards: RMRP
Gene location (Human)
Chr.	Chromosome 9 (human)
End	35,658,018 bp
RNA expression pattern
	Top expressed in
	bone marrow cells; ; sural nerve; ; thymus; ; corpus callosum; ; Achilles tendon; ; skeletal muscle tissue; ; renal cortex; ; liver; ; superior frontal gyrus; ; stomach;
	n/a
	More reference expression data
	n/a
Orthologs
	6023
	n/a
	ENSG00000269900
	n/a
	n; a
	n/a
	n/a
	n/a
	n/a
	n/a
	Wikidata
View/Edit Human

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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000269900 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "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. 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.

External links

RMRP,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
GeneReviews/NCBI/NIH/UW entry on Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000269900 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] 1 2 "Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease".

[pmid16832578-4] 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.

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References

Further reading

External links