RMRP

Summary

Gene Symbol: RMRP
Description: RNA component of mitochondrial RNA processing endoribonuclease
Alias: CHH, NME1, RMRPR, RRP2
Species: human

Top Publications

  1. ncbi Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP
    Maaret Ridanpää
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, FI 00014 University of Helsinki, Finland
    Eur J Hum Genet 10:439-47. 2002
  2. pmc Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex
    Tim 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
  3. pmc Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
    Christian T Thiel
    Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen, Germany
    Am J Hum Genet 77:795-806. 2005
  4. ncbi Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
    M Ridanpaa
    Folkhalsan Institute of Genetics, 00280 Helsinki, Finland
    Cell 104:195-203. 2001
  5. ncbi RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
    L Bonafe
    Division of Metabolism and Molecular Paediatrics and Division of Radiology, University Children s Hospital, Zurich, Switzerland
    Clin Genet 61:146-51. 2002
  6. ncbi Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations
    Kerstin Reicherter
    Center for Pediatrics and Adolescent Medicine and Faculty of Biology, University of Freiburg, Freiburg, Germany
    Indian Pediatr 48:559-61. 2011
  7. doi A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes
    Andre Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:1865-70. 2008
  8. pmc Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia
    Alireza 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
  9. doi Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations
    Fotini 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
  10. doi Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype
    Luigi D Notarangelo
    Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Curr Opin Allergy Clin Immunol 8:534-9. 2008

Scientific Experts

  • Louise S Conwell
  • Andre Megarbane
  • Luisa Bonafe
  • Luigi D Notarangelo
  • Christian T Thiel
  • Pia Hermanns
  • Eiji Nakashima
  • Yuichiro Hirose
  • Tim J M Welting
  • Kerstin Reicherter
  • Julia Horn
  • Yoshiko Maida
  • Fotini D Kavadas
  • Alireza Baradaran-Heravi
  • S A Graf
  • Gen Nishimura
  • Shiro Ikegawa
  • Hirofumi Ohashi
  • Ger J M Pruijn
  • Brendan Lee
  • Bernhard Zabel
  • Ilkka Kaitila
  • H van Eenennaam
  • Maaret Ridanpää
  • M Ridanpaa
  • Sujatha Jagadeesh
  • Amithkumar Iynapillai Veeramani
  • Hans Hartmut Peter
  • Ulrich Salzer
  • Andrea Superti-Furga
  • Antje Prasse
  • Michael Schlesier
  • Klaus Warnatz
  • Richard Possemato
  • Yoshihide Hayashizaki
  • William C Hahn
  • Vivi Kasim
  • Miho Furuuchi
  • Kenkichi Masutomi
  • Timo Lassmann
  • Mami Yasukawa
  • Naoko Okamoto
  • Anita Rauch
  • Silvia Giliani
  • Eleonora Pegoiani
  • Cornelius F Boerkoel
  • Evelina Mazzolari
  • Chaim M Roifman
  • Andrea Bates
  • Yiping Gu
  • Martin Zenker
  • Jun Cheng
  • David Schlessinger
  • Ramaiah Nagaraja
  • Joseph R Tran
  • R T Calado
  • N S Young
  • S Kajigaya
  • Shepherd H Schurman
  • Fabio Candotti
  • Alyssa Tran
  • Jules G Leroy
  • Tsutomu Ogata
  • Susan Carter
  • Masanori Adachi
  • Yuki Bando
  • Hiroshi Mochizuki
  • Elda Munivez
  • Emi Toba
  • Alison A Bertuch
  • Brian Dawson
  • Terry K Bertin
  • Chad Shaw
  • Mark E Schmitt
  • Walther J van Venrooij
  • Susanna Rockas
  • Outi Makitie
  • Pertti Sistonen
  • David L Rimoin
  • R Salmela
  • C Johnson
  • K Pelin
  • G Pruijn
  • W vanVenrooij
  • I Kaitila
  • A de la Chapelle
  • B Yuan
  • S Rockas
  • O Makitie
  • R Chadwick

Detail Information

Publications24

  1. ncbi Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP
    Maaret Ridanpää
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, FI 00014 University of Helsinki, Finland
    Eur J Hum Genet 10:439-47. 2002
    Pleiotropic, 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...
  2. pmc Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex
    Tim 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...
  3. pmc Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
    Christian 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, ..
  4. ncbi Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
    M 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...
  5. ncbi RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
    L Bonafe
    Division of Metabolism and Molecular Paediatrics and Division of Radiology, University Children s Hospital, Zurich, Switzerland
    Clin Genet 61:146-51. 2002
    Mutations 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)...
  6. ncbi Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations
    Kerstin Reicherter
    Center for Pediatrics and Adolescent Medicine and Faculty of Biology, University of Freiburg, Freiburg, Germany
    Indian Pediatr 48:559-61. 2011
    Cartilage-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...
  7. doi A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes
    Andre 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 ..
  8. pmc Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia
    Alireza 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
  9. doi Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations
    Fotini 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...
  10. doi Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype
    Luigi 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.
  11. pmc An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA
    Yoshiko 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...
  12. doi Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia
    Julia 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...
  13. ncbi Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia
    Louise S Conwell
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Brisbane, Australia
    J Pediatr Endocrinol Metab 21:209-11. 2008
  14. ncbi Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability
    Eiji 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...
  15. pmc Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
    Christian T Thiel
    Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 81:519-29. 2007
    Mutations 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 ..
  16. ncbi RMRP mutations in hematological disorders
    S A Graf
    Clin Genet 71:468-70. 2007
  17. ncbi RMRP mutations in cartilage-hair hypoplasia
    Pia 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...
  18. ncbi Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
    Yuichiro 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 ..
  19. ncbi Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
    Pia 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 ..
  20. pmc Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
    Luisa Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    PLoS Genet 1:e47. 2005
    Cartilage-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 ..
  21. pmc hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes
    H 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...