Gene Symbol: RMRP
Description: RNA component of mitochondrial RNA processing endoribonuclease
Alias: CHH, NME1, RMRPR, RRP2
- Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRPMaaret Ridanpää
Folkhalsan Institute of Genetics, Biomedicum Helsinki, FI 00014 University of Helsinki, Finland
Eur J Hum Genet 10:439-47. 2002Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease...
- Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasiaM Ridanpaa
Folkhalsan Institute of Genetics, 00280 Helsinki, Finland
Cell 104:195-203. 2001..We describe numerous mutations in the untranslated RMRP gene that cosegregate with the CHH phenotype...
- RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsL Bonafe
Division of Metabolism and Molecular Paediatrics and Division of Radiology, University Children s Hospital, Zurich, Switzerland
Clin Genet 61:146-51. 2002Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250)...
- Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complexTim J M Welting
Department of Biochemistry, Nijmegen Center for Molecular Life Sciences, University of Nijmegen, Nijmegen, The Netherlands
Nucleic Acids Res 32:2138-46. 2004..The results provide insight into the way the protein and RNA subunits assemble into a ribonucleoprotein particle. Based upon these data a new model for the architecture of the human RNase MRP complex was generated...
- Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel
Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen, Germany
Am J Hum Genet 77:795-806. 2005..Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, ..
- An RNA-dependent RNA polymerase formed by TERT and the RMRP RNAYoshiko Maida
Cancer Stem Cell Project, National Cancer Center Research Institute, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
Nature 461:230-5. 2009..Here we show that TERT interacts with the RNA component of mitochondrial RNA processing endoribonuclease (RMRP), a gene that is mutated in the inherited pleiotropic syndrome cartilage-hair hypoplasia...
- Wnt activated β-catenin and YAP proteins enhance the expression of non-coding RNA component of RNase MRP in colon cancer cellsJinjoo Park
National Research Lab for RNA Cell Biology, Department of Molecular Biology, Dankook University, Yongin, Gyeonggi Do, Republic of Korea
Oncotarget 6:34658-68. 2015b>RMRP, the RNA component of mitochondrial RNA processing endoribonuclease, is a non-coding RNA (ncRNA) part of the RNase MRP complex functioning in mitochondrial and ribosomal RNA processing...
- Variable phenotype of severe immunodeficiencies associated with RMRP gene mutationsWinnie Ip
Molecular and Cellular Immunology Section, Institute of Child Health, University College of London, London, UK
J Clin Immunol 35:147-57. 2015Mutations in RMRP primarily give rise to Cartilage Hair Hypoplasia (CHH), a highly diverse skeletal disorder which can be associated with severe immunodeficiency...
- Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasiaLeslie E Rogler
Department of Medicine
Hum Mol Genet 23:368-82. 2014..RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs...
- Off-target effect of endogenous siRNA derived from RMRP in human cellsYoshiko Maida
Division of Cancer Stem Cell, National Cancer Center Research Institute, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
Int J Mol Sci 14:9305-18. 2013..demonstrated that human telomerase reverse transcriptase produces a self-targeting endogenous siRNA from non-coding RMRP RNA via RNA-dependent RNA polymerase (RdRP) activity...
- Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutationsKerstin Reicherter
Center for Pediatrics and Adolescent Medicine and Faculty of Biology, University of Freiburg, Freiburg, Germany
Indian Pediatr 48:559-61. 2011Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands...
- RMRP mutations in cartilage-hair hypoplasiaPia Hermanns
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 140:2121-30. 2006..is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non-coding RNA gene RMRP. Twenty-seven CHH patients were referred for molecular evaluation of the clinical diagnosis...
- hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexesH van Eenennaam
Department of Biochemistry, University of Nijmegen, PO Box 9101, NL 6500 HB Nijmegen, The Netherlands
Nucleic Acids Res 27:2465-72. 1999..Finally we showed that anti-hPop4 immunoprecipitates possess RNase P enzymatic activity. Taken together, these data show that we have identified a protein that represents the human counterpart of the yeast Pop4p protein...
- Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa Bonafe
Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
PLoS Genet 1:e47. 2005Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune ..
- Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasiaPia Hermanns
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 14:3723-40. 2005..It is caused by mutations in RMRP, the RNA component of the ribonucleoprotein complex RNase MRP, and, thus, CHH represents one of few Mendelian ..
- Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasiaJulia Horn
Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Freiburg, Germany
Hum Immunol 71:916-9. 2010..CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene...
- Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasiaYuichiro Hirose
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
J Hum Genet 51:706-10. 2006..CHH is caused by mutations in RMRP (ribonuclease mitochondrial RNA processing), the gene encoding the RNA component of the ribonucleoprotein complex ..
- RMRP mutations in hematological disordersS A Graf
Clin Genet 71:468-70. 2007
- Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotypeLuigi D Notarangelo
Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Curr Opin Allergy Clin Immunol 8:534-9. 2008..spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans.
- Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutationsFotini D Kavadas
Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
J Allergy Clin Immunol 122:1178-84. 2008..type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing (RMRP) gene...
- Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasiaAlireza Baradaran-Heravi
Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, Canada
Am J Med Genet A 146:2013-7. 2008
- A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genesAndre Megarbane
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
Am J Med Genet A 146:1865-70. 2008..We suggest that this family is affected with the Spahr type of metaphyseal chondrodysplasia. Sequencing of RMRP, and a haplotype analysis using highly informative markers around the COL10A1 excluded both genes from being ..
- Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasiaLouise S Conwell
Department of Endocrinology and Diabetes, Royal Children s Hospital, Brisbane, Australia
J Pediatr Endocrinol Metab 21:209-11. 2008
- Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instabilityEiji Nakashima
Laboratory of Genetics, NIH National Institute on Aging, Baltimore, Maryland 21224, USA
Am J Med Genet A 143:2675-81. 2007..It is caused by mutations in RMRP gene, the RNA component of the ribonucleoprotein complex RNase MRP...
- Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 81:519-29. 2007Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic ..