RMRP: Difference between revisions

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'''RNA component of mitochondrial RNA processing endoribonuclease''', also known as '''RMRP''', is a human [[gene]].<ref name="entrez"/>
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| image = 
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| PDB =
| Name = RNA component of mitochondrial RNA processing endoribonuclease
| HGNCid = 10031
| Symbol = RMRP
| AltSymbols =; CHH; RMRPR
| OMIM = 157660
| ECnumber = 
| Homologene = 
| MGIid = 
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6023
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'''RNA component of mitochondrial RNA processing endoribonuclease''', also known as '''RMRP''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6023| accessdate = }}</ref>


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{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 RNRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6023| accessdate = }}</ref>
| summary_text = 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 RNRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6023| accessdate = }}</ref>
}}
}}
It is associated with [[cartilage–hair hypoplasia]].<ref name="pmid16832578">{{cite journal  |vauthors=Hirose Y, Nakashima E, Ohashi H, etal |title=Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia |journal=J. Hum. Genet. |volume=51 |issue=8 |pages=706–10 |year=2006 |pmid=16832578 |doi=10.1007/s10038-006-0015-3 }}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Topper JN, Bennett JL, Clayton DA |title=A role for RNAase MRP in mitochondrial RNA processing. |journal=Cell |volume=70 |issue= 1 |pages= 16-20 |year= 1992 |pmid= 1623519 |doi=  }}
*{{cite journal  | vauthors=Topper JN, Bennett JL, Clayton DA |title=A role for RNAase MRP in mitochondrial RNA processing. |journal=Cell |volume=70 |issue= 1 |pages= 16–20 |year= 1992 |pmid= 1623519 |doi=10.1016/0092-8674(92)90529-L }}
*{{cite journal  | author=Chang DD, Clayton DA |title=A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication. |journal=EMBO J. |volume=6 |issue= 2 |pages= 409-17 |year= 1987 |pmid= 3582365 |doi=  }}
*{{cite journal  | vauthors=Chang DD, Clayton DA |title=A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication |journal=EMBO J. |volume=6 |issue= 2 |pages= 409–17 |year= 1987 |pmid= 3582365 |doi= | pmc=553411 }}
*{{cite journal  | author=van Eenennaam H, Pruijn GJ, van Venrooij WJ |title=hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes. |journal=Nucleic Acids Res. |volume=27 |issue= 12 |pages= 2465-72 |year= 1999 |pmid= 10352175 |doi=  }}
*{{cite journal  | vauthors=van Eenennaam H, Pruijn GJ, van Venrooij WJ |title=hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes |journal=Nucleic Acids Res. |volume=27 |issue= 12 |pages= 2465–72 |year= 1999 |pmid= 10352175 |doi=10.1093/nar/27.12.2465  | pmc=148449 }}
*{{cite journal | author=Ridanpää M, van Eenennaam H, Pelin K, ''et al.'' |title=Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. |journal=Cell |volume=104 |issue= 2 |pages= 195-203 |year= 2001 |pmid= 11207361 |doi=  }}
*{{cite journal   |vauthors=Ridanpää M, van Eenennaam H, Pelin K, etal |title=Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia |journal=Cell |volume=104 |issue= 2 |pages= 195–203 |year= 2001 |pmid= 11207361 |doi=10.1016/S0092-8674(01)00205-7 }}
*{{cite journal | author=Bonafé L, Schmitt K, Eich G, ''et al.'' |title=RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. |journal=Clin. Genet. |volume=61 |issue= 2 |pages= 146-51 |year= 2002 |pmid= 11940090 |doi=  }}
*{{cite journal   |vauthors=Bonafé L, Schmitt K, Eich G, etal |title=RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms |journal=Clin. Genet. |volume=61 |issue= 2 |pages= 146–51 |year= 2002 |pmid= 11940090 |doi=10.1034/j.1399-0004.2002.610210.x }}
*{{cite journal | author=Ridanpää M, Sistonen P, Rockas S, ''et al.'' |title=Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 7 |pages= 439-47 |year= 2003 |pmid= 12107819 |doi= 10.1038/sj.ejhg.5200824 }}
*{{cite journal   |vauthors=Ridanpää M, Sistonen P, Rockas S, etal |title=Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP |journal=Eur. J. Hum. Genet. |volume=10 |issue= 7 |pages= 439–47 |year= 2003 |pmid= 12107819 |doi= 10.1038/sj.ejhg.5200824 }}
*{{cite journal  | author=Welting TJ, van Venrooij WJ, Pruijn GJ |title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2138-46 |year= 2004 |pmid= 15096576 |doi= 10.1093/nar/gkh539 }}
*{{cite journal  | vauthors=Welting TJ, van Venrooij WJ, Pruijn GJ |title=Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2138–46 |year= 2004 |pmid= 15096576 |doi= 10.1093/nar/gkh539 | pmc=407822 }}
*{{cite journal | author=Bonafé L, Dermitzakis ET, Unger S, ''et al.'' |title=Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. |journal=PLoS Genet. |volume=1 |issue= 4 |pages= e47 |year= 2006 |pmid= 16244706 |doi= 10.1371/journal.pgen.0010047 }}
*{{cite journal   |vauthors=Bonafé L, Dermitzakis ET, Unger S, etal |title=Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations |journal=PLoS Genet. |volume=1 |issue= 4 |pages= e47 |year= 2006 |pmid= 16244706 |doi= 10.1371/journal.pgen.0010047 | pmc=1262189 }}
*{{cite journal | author=Thiel CT, Horn D, Zabel B, ''et al.'' |title=Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. |journal=Am. J. Hum. Genet. |volume=77 |issue= 5 |pages= 795-806 |year= 2006 |pmid= 16252239 |doi= 10.1086/497708 }}
*{{cite journal   |vauthors=Thiel CT, Horn D, Zabel B, etal |title=Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator |journal=Am. J. Hum. Genet. |volume=77 |issue= 5 |pages= 795–806 |year= 2006 |pmid= 16252239 |doi= 10.1086/497708 | pmc=1271388 }}
*{{cite journal | author=Hermanns P, Bertuch AA, Bertin TK, ''et al.'' |title=Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. |journal=Hum. Mol. Genet. |volume=14 |issue= 23 |pages= 3723-40 |year= 2006 |pmid= 16254002 |doi= 10.1093/hmg/ddi403 }}
*{{cite journal   |vauthors=Hermanns P, Bertuch AA, Bertin TK, etal |title=Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia |journal=Hum. Mol. Genet. |volume=14 |issue= 23 |pages= 3723–40 |year= 2006 |pmid= 16254002 |doi= 10.1093/hmg/ddi403 }}
*{{cite journal | author=Hirose Y, Nakashima E, Ohashi H, ''et al.'' |title=Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. |journal=J. Hum. Genet. |volume=51 |issue= 8 |pages= 706-10 |year= 2006 |pmid= 16832578 |doi= 10.1007/s10038-006-0015-3 }}
*{{cite journal   |vauthors=Hirose Y, Nakashima E, Ohashi H, etal |title=Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia |journal=J. Hum. Genet. |volume=51 |issue= 8 |pages= 706–10 |year= 2006 |pmid= 16832578 |doi= 10.1007/s10038-006-0015-3 }}
*{{cite journal | author=Hermanns P, Tran A, Munivez E, ''et al.'' |title=RMRP mutations in cartilage-hair hypoplasia. |journal=Am. J. Med. Genet. A |volume=140 |issue= 19 |pages= 2121-30 |year= 2006 |pmid= 16838329 |doi= 10.1002/ajmg.a.31331 }}
*{{cite journal   |vauthors=Hermanns P, Tran A, Munivez E, etal |title=RMRP mutations in cartilage-hair hypoplasia |journal=Am. J. Med. Genet. A |volume=140 |issue= 19 |pages= 2121–30 |year= 2006 |pmid= 16838329 |doi= 10.1002/ajmg.a.31331 }}
*{{cite journal  | author=Graf SA, Calado RT, Kajigaya S, Young NS |title=RMRP mutations in hematological disorders. |journal=Clin. Genet. |volume=71 |issue= 5 |pages= 468-70 |year= 2007 |pmid= 17489853 |doi= 10.1111/j.1399-0004.2007.00776.x }}
*{{cite journal  | vauthors=Graf SA, Calado RT, Kajigaya S, Young NS |title=RMRP mutations in hematological disorders |journal=Clin. Genet. |volume=71 |issue= 5 |pages= 468–70 |year= 2007 |pmid= 17489853 |doi= 10.1111/j.1399-0004.2007.00776.x }}
*{{cite journal | author=Thiel CT, Mortier G, Kaitila I, ''et al.'' |title=Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. |journal=Am. J. Hum. Genet. |volume=81 |issue= 3 |pages= 519-29 |year= 2007 |pmid= 17701897 |doi= 10.1086/521034 }}
*{{cite journal   |vauthors=Thiel CT, Mortier G, Kaitila I, etal |title=Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum |journal=Am. J. Hum. Genet. |volume=81 |issue= 3 |pages= 519–29 |year= 2007 |pmid= 17701897 |doi= 10.1086/521034 | pmc=1950841 }}
}}
}}
{{refend}}
{{refend}}
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==External links==
* {{MeshName|RMRP,+human}}
* [https://www.ncbi.nlm.nih.gov/books/NBK84550/  GeneReviews/NCBI/NIH/UW entry on Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders]


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Latest revision as of 09:17, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.[1]

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 RNRP gene is untranslated, i.e., it encodes an RNA not a protein.[supplied by OMIM][1]

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

References

  1. ↑ 1.0 1.1 "Entrez Gene: RMRP RNA component of mitochondrial RNA processing endoribonuclease".
  2. ↑ Hirose Y, Nakashima E, Ohashi H, et al. (2006). "Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia". J. Hum. Genet. 51 (8): 706–10. doi:10.1007/s10038-006-0015-3. PMID 16832578.

Further reading


External links


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